NM_000377.3(WAS):c.360+1G>APathogenic
Wiskott-Aldrich syndrome|not provided|Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia;Thrombocytopenia 1
★★☆☆2026
NM_000377.3(WAS):c.91G>A (p.Glu31Lys)Pathogenic
X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|not provided|Wiskott-Aldrich syndrome
★★☆☆2026→ Residue 31
NM_000377.3(WAS):c.559+5G>APathogenic
not provided|Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia|Wiskott-Aldrich syndrome|Thrombocytopenia 1
★★☆☆2025
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)Pathogenic
Wiskott-Aldrich syndrome|not provided|X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|Thrombocytopenia 1
★★☆☆2025→ Residue 485
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)Pathogenic
Wiskott-Aldrich syndrome|X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome
★★☆☆2025→ Residue 224
NM_000377.3(WAS):c.777+1G>APathogenic
not provided|Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia|Wiskott-Aldrich syndrome|Thrombocytopenia 1|Inborn genetic diseases|Colon adenocarcinoma
★★☆☆2025
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)Pathogenic
X-linked severe congenital neutropenia|Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia|not provided|WAS-related disorder|X-Linked Neutropenia (XLN)|Wiskott-Aldrich syndrome
★★☆☆2025→ Residue 294
NM_000377.3(WAS):c.1271dup (p.Leu425fs)Pathogenic
Wiskott-Aldrich syndrome|Thrombocytopenia 1|Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia
★★☆☆2025→ Residue 425
NM_000377.3(WAS):c.778-6G>APathogenic
not provided|Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome
★★☆☆2025
NM_000377.3(WAS):c.223G>A (p.Val75Met)Pathogenic
not provided|Thrombocytopenia 1|X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome
★★☆☆2025→ Residue 75
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)Pathogenic
Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome|WAS-related disorder
★★☆☆2025→ Residue 86
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)Pathogenic
Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome;Thrombocytopenia 1;X-linked severe congenital neutropenia|not provided
★★☆☆2025→ Residue 13
NM_000377.3(WAS):c.134C>T (p.Thr45Met)Pathogenic
Thrombocytopenia 1|Thrombocytopenia|Thrombocytopenia 1;Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia|not provided|WAS-related disorder|Wiskott-Aldrich syndrome
★★☆☆2025→ Residue 45
NM_000377.3(WAS):c.777+3_777+6delPathogenic
X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|not provided
★★☆☆2025
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)Pathogenic
not provided|Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome
★★☆☆2025→ Residue 321
NM_000377.3(WAS):c.167C>T (p.Ala56Val)Pathogenic
Thrombocytopenia 1|not provided|Wiskott-Aldrich syndrome|Thrombocytopenia 1;Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia
★★☆☆2025→ Residue 56
NM_000377.3(WAS):c.1001del (p.Gly334fs)Pathogenic
Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome|Thrombocytopenia 1
★★☆☆2025→ Residue 334
NM_000377.3(WAS):c.257G>A (p.Arg86His)Pathogenic
Wiskott-Aldrich syndrome|not provided|Thrombocytopenia 1;Wiskott-Aldrich syndrome;X-linked severe congenital neutropenia
★★☆☆2024→ Residue 86
NM_000377.3(WAS):c.723del (p.Ser242fs)Pathogenic
Thrombocytopenia 1;X-linked severe congenital neutropenia;Wiskott-Aldrich syndrome|not provided|Wiskott-Aldrich syndrome
★★☆☆2024→ Residue 242
NM_000377.3(WAS):c.631C>T (p.Arg211Ter)Pathogenic
X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|not provided
★★☆☆2024→ Residue 211