NM_014875.3(KIF14):c.2609_2610del (p.Tyr870fs)Pathogenic
not provided
β
β
ββ2026β Residue 870
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)Pathogenic
not provided|Microcephaly 20, primary, autosomal recessive
β
β
ββ2024β Residue 35
NM_014875.3(KIF14):c.3661+1G>TLikely pathogenic
not provided|Joubert syndrome and related disorders|KIF14-related disorder|Clear cell carcinoma of kidney
β
β
ββ2024
NM_014875.3(KIF14):c.4094del (p.Ser1364_Ser1365insTer)Likely pathogenic
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome;Microcephaly 20, primary, autosomal recessive
β
β
ββ2024β Residue 1364
NM_014875.3(KIF14):c.246_247insG (p.Asn83fs)Pathogenic
not provided
β
βββ2026β Residue 83
NM_014875.3(KIF14):c.374_375dup (p.Lys126fs)Pathogenic
not provided
β
βββ2026β Residue 126
NM_014875.3(KIF14):c.4059_4060insACTTACAA (p.Leu1354fs)Pathogenic
not provided
β
βββ2026β Residue 1354
NM_014875.3(KIF14):c.1936C>T (p.Gln646Ter)Pathogenic
not provided
β
βββ2026β Residue 646
NM_014875.3(KIF14):c.2813+1G>CLikely pathogenic
not provided
β
βββ2025
NM_014875.3(KIF14):c.3886+1_3886+2delLikely pathogenic
not provided
β
βββ2025
NM_014875.3(KIF14):c.834_835insGGGGGGATTGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCAACGCAGAAGACGGTGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAAAGAACACCT (p.Thr279delinsGlyGlyIleGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer)Pathogenic
not provided
β
βββ2025β Residue 279
NM_014875.3(KIF14):c.1712_1746+27delLikely pathogenic
Joubert syndrome and related disorders
β
βββ2025
NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val)Likely pathogenic
Microcephaly 20, primary, autosomal recessive|Joubert syndrome and related disorders
β
βββ2025β Residue 1221
NM_014875.3(KIF14):c.3910C>T (p.Gln1304Ter)Pathogenic
Microcephaly 20, primary, autosomal recessive
β
βββ2025β Residue 1304
NM_014875.3(KIF14):c.4475del (p.Asp1492fs)Likely pathogenic
Microcephaly 20, primary, autosomal recessive
β
βββ2024β Residue 1492
NM_014875.3(KIF14):c.1989_1993del (p.Glu664fs)Likely pathogenic
Microcephaly 20, primary, autosomal recessive;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
β
βββ2024β Residue 664
NM_014875.3(KIF14):c.1123G>T (p.Glu375Ter)Likely pathogenic
Microcephaly 20, primary, autosomal recessive;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
β
βββ2024β Residue 375
NM_014875.3(KIF14):c.955del (p.Ser319fs)Likely pathogenic
Microcephaly 20, primary, autosomal recessive;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
β
βββ2024β Residue 319
NM_014875.3(KIF14):c.3619C>T (p.Gln1207Ter)Likely pathogenic
Microcephaly 20, primary, autosomal recessive;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
β
βββ2024β Residue 1207
NM_014875.3(KIF14):c.1021_1022del (p.Val341fs)Likely pathogenic
Microcephaly 20, primary, autosomal recessive;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
β
βββ2024β Residue 341