ClinVar for Gene (Select 3800) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239018	NM_004522.3(KIF5C):c.2857A>G (p.Thr953Ala)	KIF5C (T953A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3234577	NM_004522.3(KIF5C):c.292-2225G>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3148961	NM_004522.3(KIF5C):c.1771A>G (p.Ile591Val)	KIF5C (I591V)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 3114957	NM_004522.3(KIF5C):c.79G>A (p.Asp27Asn)	KIF5C (D27N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114956	NM_004522.3(KIF5C):c.179A>G (p.Glu60Gly)	KIF5C, LOC101928553 (E60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067305	NM_004522.3(KIF5C):c.1038T>C (p.Tyr346=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3058340	NM_004522.3(KIF5C):c.1074T>C (p.Asn358=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3052973	NM_004522.3(KIF5C):c.960C>T (p.Phe320=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3050271	NM_004522.3(KIF5C):c.2674C>A (p.Arg892=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3043875	NM_004522.3(KIF5C):c.1830C>T (p.Ser610=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3042232	NM_004522.3(KIF5C):c.1893G>C (p.Leu631=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3035998	NM_004522.3(KIF5C):c.1575A>G (p.Thr525=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3034989	NM_004522.3(KIF5C):c.524C>T (p.Ser175Leu)	KIF5C (S175L)	Single nucleotide variant (missense variant)	KIF5C-related disorder	GLikely benign
Select item 3030277	NM_004522.3(KIF5C):c.1294-7G>A	KIF5C	Single nucleotide variant (intron variant)	KIF5C-related disorder	GLikely benign
Select item 3030109	NM_004522.3(KIF5C):c.306C>T (p.Asp102=)	KIF5C	Single nucleotide variant (synonymous variant)	KIF5C-related disorder	GLikely benign
Select item 3029976	NM_004522.3(KIF5C):c.2238G>A (p.Gln746=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 3024403	NM_004522.3(KIF5C):c.1448A>G (p.Glu483Gly)	KIF5C (E483G)	Single nucleotide variant (missense variant +1 more)	Jaw-winking syndrome	GUncertain significance
Select item 3024402	NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)	KIF5C (T872M)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 3024401	NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)	KIF5C (R894C)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 2691589	NM_004522.3(KIF5C):c.10C>A (p.Pro4Thr)	KIF5C (P4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689315	NM_004522.3(KIF5C):c.2230C>G (p.Leu744Val)	KIF5C (L744V)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2672827	NM_004522.3(KIF5C):c.37T>C (p.Cys13Arg)	KIF5C (C13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662092	NM_004522.3(KIF5C):c.487G>C (p.Val163Leu)	KIF5C (V163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651419	NM_004522.3(KIF5C):c.2687G>A (p.Arg896His)	KIF5C (R896H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2651418	NM_004522.3(KIF5C):c.2263A>G (p.Lys755Glu)	KIF5C (K755E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632003	NM_004522.3(KIF5C):c.2072C>T (p.Thr691Met)	KIF5C (T691M)	Single nucleotide variant (missense variant +1 more)	KIF5C-related disorder	GUncertain significance
Select item 2630421	NM_004522.3(KIF5C):c.580G>A (p.Ala194Thr)	KIF5C (A194T)	Single nucleotide variant (missense variant)	KIF5C-related disorder	GUncertain significance
Select item 2581664	NM_004522.3(KIF5C):c.820-13T>C	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2581663	NM_004522.3(KIF5C):c.820-4A>G	KIF5C	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2505787	NM_004522.3(KIF5C):c.2446-5T>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2498166	NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)	KIF5C (E237G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GLikely pathogenic
Select item 2443686	NM_004522.3(KIF5C):c.275A>G (p.Lys92Arg)	KIF5C (K92R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2441978	NM_004522.3(KIF5C):c.571C>T (p.Arg191Ter)	KIF5C (R191*)	Single nucleotide variant (nonsense)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2441708	NM_004522.3(KIF5C):c.610A>G (p.Arg204Gly)	KIF5C (R204G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2433158	NM_004522.3(KIF5C):c.1187C>A (p.Thr396Asn)	KIF5C (T396N)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2433157	NM_004522.3(KIF5C):c.2618C>T (p.Ala873Val)	KIF5C (A873V)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2433156	NM_004522.3(KIF5C):c.2672T>C (p.Met891Thr)	KIF5C (M891T)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2430517	NM_004522.3(KIF5C):c.1_3del (p.Met1del)	KIF5C (M1del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2429868	NM_004522.3(KIF5C):c.856C>T (p.Arg286Trp)	KIF5C (R286W)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2410231	NM_004522.3(KIF5C):c.88A>G (p.Ile30Val)	KIF5C (I30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241543	NM_004522.3(KIF5C):c.155T>C (p.Val52Ala)	KIF5C, LOC101928553 (V52A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878628	NM_004522.3(KIF5C):c.265T>C (p.Ser89Pro)	KIF5C (S89P)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GPathogenic
Select item 1805970	NM_004522.3(KIF5C):c.2640G>C (p.Glu880Asp)	KIF5C (E880D)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1711507	NM_004522.3(KIF5C):c.2675G>A (p.Arg892Gln)	KIF5C (R892Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708124	NM_004522.3(KIF5C):c.1358A>G (p.Asp453Gly)	KIF5C (D453G)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1699156	NM_004522.3(KIF5C):c.1700C>T (p.Thr567Ile)	KIF5C (T567I)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1678864	NM_004522.3(KIF5C):c.1824C>T (p.Leu608=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1678806	NM_004522.3(KIF5C):c.1431T>C (p.Asn477=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1678783	NM_004522.3(KIF5C):c.802G>T (p.Ala268Ser)	KIF5C (A268S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1675796	NM_004522.3(KIF5C):c.1984G>C (p.Asp662His)	KIF5C (D662H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341828	NM_004522.3(KIF5C):c.952C>A (p.Leu318Met)	KIF5C (L318M)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1341342	NM_004522.3(KIF5C):c.1964G>A (p.Arg655Lys)	KIF5C (R655K)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GLikely benign
Select item 1339229	NM_004522.3(KIF5C):c.1454A>C (p.Lys485Thr)	KIF5C (K485T)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1337681	NM_004522.3(KIF5C):c.1224C>A (p.Gly408=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1337334	NM_004522.3(KIF5C):c.2396A>G (p.His799Arg)	KIF5C (H799R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1333049	NM_004522.3(KIF5C):c.278C>T (p.Thr93Ile)	KIF5C (T93I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1315559	NM_004522.3(KIF5C):c.1405G>A (p.Glu469Lys)	KIF5C (E469K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313996	NM_004522.3(KIF5C):c.362A>G (p.Tyr121Cys)	KIF5C (Y121C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308068	NM_004522.3(KIF5C):c.116T>C (p.Val39Ala)	KIF5C (V39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300456	NM_004522.3(KIF5C):c.2210+339_2210+340dup	KIF5C	Duplication (intron variant)	not provided	GLikely benign
Select item 1298127	NM_004522.3(KIF5C):c.2210+64T>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298126	NM_004522.3(KIF5C):c.2210+142C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297401	NM_004522.3(KIF5C):c.1118-47A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295852	NM_004522.3(KIF5C):c.*7+39C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295849	NM_004522.3(KIF5C):c.*7+229C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295848	NM_004522.3(KIF5C):c.2550+118A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295846	NM_004522.3(KIF5C):c.2446-214del	KIF5C	Deletion (intron variant)	not provided	GBenign
Select item 1292561	NM_004522.3(KIF5C):c.525G>A (p.Ser175=)	KIF5C	Single nucleotide variant (synonymous variant)	KIF5C-related disorder +1 more	GBenign
Select item 1290873	NM_004522.3(KIF5C):c.1526C>T (p.Thr509Ile)	KIF5C (T509I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1283000	NM_004522.3(KIF5C):c.1117+40T>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282974	NM_004522.3(KIF5C):c.1294-14A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277980	NM_004522.3(KIF5C):c.-31T>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1272713	NM_004522.3(KIF5C):c.2210+340dup	KIF5C	Duplication (intron variant)	not provided	GBenign
Select item 1269234	NM_004522.3(KIF5C):c.2550+214A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265025	NM_004522.3(KIF5C):c.501+299G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264832	NM_004522.3(KIF5C):c.2394G>A (p.Leu798=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1264093	NM_004522.3(KIF5C):c.708C>T (p.Ser236=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1263573	NM_004522.3(KIF5C):c.*7+169C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262141	NM_004522.3(KIF5C):c.968+207C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261305	NM_004522.3(KIF5C):c.838C>A (p.Arg280=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1261010	NM_004522.3(KIF5C):c.1117+192G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260957	NM_004522.3(KIF5C):c.2551-22T>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260232	NM_004522.3(KIF5C):c.217+162A>T	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259922	NM_004522.3(KIF5C):c.2211-69C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252331	NM_004522.3(KIF5C):c.2374-228G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251676	NM_004522.3(KIF5C):c.715-39C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251414	NM_004522.3(KIF5C):c.1117+239dup	KIF5C	Duplication (intron variant)	not provided	GBenign
Select item 1251235	NM_004522.3(KIF5C):c.1293+109G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249855	NM_004522.3(KIF5C):c.-32A>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248124	NM_004522.3(KIF5C):c.502-268T>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247522	NM_004522.3(KIF5C):c.969-215A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246884	NM_004522.3(KIF5C):c.138A>G (p.Pro46=)	KIF5C, LOC101928553	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1240665	NM_004522.3(KIF5C):c.2100+106A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238079	NM_004522.3(KIF5C):c.2551-253G>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235352	NM_004522.3(KIF5C):c.126+46C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233326	NM_004522.3(KIF5C):c.1117+304C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228168	NM_004522.3(KIF5C):c.820-59C>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223634	NM_004522.3(KIF5C):c.127-74G>A	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222829	NM_004522.3(KIF5C):c.2814C>T (p.Ala938=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1222472	NM_004522.3(KIF5C):c.2210+340del	KIF5C	Deletion (intron variant)	not provided	GBenign

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