ClinVar for Gene (Select 23095) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356172	NM_001365951.3(KIF1B):c.2115+7360T>G	KIF1B (S1141A)	Single nucleotide variant (missense variant +1 more)	KIF1B-related disorder	GUncertain significance
Select item 3355869	NM_001365951.3(KIF1B):c.2115+6774T>G	KIF1B (N945K)	Single nucleotide variant (missense variant +1 more)	KIF1B-related disorder	GUncertain significance
Select item 3352251	NM_001365951.3(KIF1B):c.2115+7350G>A	KIF1B	Single nucleotide variant (synonymous variant +1 more)	KIF1B-related disorder	GLikely benign
Select item 3350925	NM_001365951.3(KIF1B):c.2115+7041C>G	KIF1B (S1034R)	Single nucleotide variant (missense variant +1 more)	KIF1B-related disorder	GUncertain significance
Select item 3348891	NM_001365951.3(KIF1B):c.2808T>C (p.Asp936=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	KIF1B-related disorder	GLikely benign
Select item 3339989	NM_001365951.3(KIF1B):c.2592C>T (p.Ser864=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288489	NM_001365951.3(KIF1B):c.793T>G (p.Leu265Val)	KIF1B (L265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288488	NM_001365951.3(KIF1B):c.3902A>T (p.Glu1301Val)	KIF1B (E1255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288487	NM_001365951.3(KIF1B):c.2199A>G (p.Glu733=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288486	NM_001365951.3(KIF1B):c.3224C>T (p.Thr1075Ile)	KIF1B (T1075I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288485	NM_001365951.3(KIF1B):c.3149C>G (p.Ala1050Gly)	KIF1B (A1050G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288484	NM_001365951.3(KIF1B):c.1910C>T (p.Pro637Leu)	KIF1B (P591L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288483	NM_001365951.3(KIF1B):c.4762C>G (p.Leu1588Val)	KIF1B (L1542V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288482	NM_001365951.3(KIF1B):c.4449C>T (p.Pro1483=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288481	NM_001365951.3(KIF1B):c.5267A>G (p.Glu1756Gly)	KIF1B (E1710G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288480	NM_001365951.3(KIF1B):c.2233G>C (p.Glu745Gln)	KIF1B (E745Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288479	NM_001365951.3(KIF1B):c.202G>T (p.Ala68Ser)	KIF1B (A68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288478	NM_001365951.3(KIF1B):c.248T>C (p.Leu83Ser)	KIF1B (L83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288477	NM_001365951.3(KIF1B):c.626A>G (p.Asn209Ser)	KIF1B (N209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288476	NM_001365951.3(KIF1B):c.4950C>T (p.Thr1650=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288475	NM_001365951.3(KIF1B):c.2870G>C (p.Ser957Thr)	KIF1B, LOC126805614 (S957T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288474	NM_001365951.3(KIF1B):c.1515-4C>T	KIF1B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3288473	NM_001365951.3(KIF1B):c.5037C>T (p.Ala1679=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288472	NM_001365951.3(KIF1B):c.839A>G (p.Lys280Arg)	KIF1B (K280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288471	NM_001365951.3(KIF1B):c.3264G>C (p.Leu1088Phe)	KIF1B (L1042F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288470	NM_001365951.3(KIF1B):c.2161C>A (p.Arg721=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288469	NM_001365951.3(KIF1B):c.4102T>A (p.Ser1368Thr)	KIF1B (S1322T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288468	NM_001365951.3(KIF1B):c.3897C>G (p.Ile1299Met)	KIF1B (I1299M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288467	NM_001365951.3(KIF1B):c.519T>G (p.Leu173=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288466	NM_001365951.3(KIF1B):c.4305G>A (p.Ser1435=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288465	NM_001365951.3(KIF1B):c.221A>T (p.Tyr74Phe)	KIF1B (Y74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288464	NM_001365951.3(KIF1B):c.3919C>T (p.His1307Tyr)	KIF1B (H1261Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288463	NM_001365951.3(KIF1B):c.3174G>A (p.Leu1058=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3288462	NM_001365951.3(KIF1B):c.273C>T (p.Val91=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288461	NM_001365951.3(KIF1B):c.5144A>G (p.Tyr1715Cys)	KIF1B (Y1715C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288460	NM_001365951.3(KIF1B):c.4383A>G (p.Arg1461=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288459	NM_001365951.3(KIF1B):c.5345T>C (p.Leu1782Pro)	KIF1B (L1736P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288458	NM_001365951.3(KIF1B):c.4054A>G (p.Arg1352Gly)	KIF1B (R1352G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288457	NM_001365951.3(KIF1B):c.2732C>T (p.Pro911Leu)	KIF1B, LOC126805614 (P865L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288456	NM_001365951.3(KIF1B):c.3635C>A (p.Pro1212Gln)	KIF1B (P1166Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288455	NM_001365951.3(KIF1B):c.903A>G (p.Thr301=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288454	NM_001365951.3(KIF1B):c.3917T>G (p.Leu1306Arg)	KIF1B (L1306R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288453	NM_001365951.3(KIF1B):c.3340G>A (p.Gly1114Ser)	KIF1B (G1114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288452	NM_001365951.3(KIF1B):c.1455T>C (p.Ala485=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288451	NM_001365951.3(KIF1B):c.5229A>C (p.Gly1743=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288450	NM_001365951.3(KIF1B):c.4594C>G (p.Pro1532Ala)	KIF1B (P1486A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288449	NM_001365951.3(KIF1B):c.4593C>T (p.Ser1531=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288448	NM_001365951.3(KIF1B):c.4936C>T (p.Leu1646=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288447	NM_001365951.3(KIF1B):c.3896T>A (p.Ile1299Asn)	KIF1B (I1299N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288446	NM_001365951.3(KIF1B):c.957A>G (p.Leu319=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288444	NM_001365951.3(KIF1B):c.1455T>A (p.Ala485=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288443	NM_001365951.3(KIF1B):c.4782C>G (p.Asn1594Lys)	KIF1B (N1548K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288442	NM_001365951.3(KIF1B):c.4865_4869del (p.Ser1622fs)	KIF1B (S1576fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3288441	NM_001365951.3(KIF1B):c.619G>T (p.Ala207Ser)	KIF1B (A207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288440	NM_001365951.3(KIF1B):c.5423G>T (p.Arg1808Leu)	KIF1B (R1762L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288439	NM_001365951.3(KIF1B):c.3497T>G (p.Phe1166Cys)	KIF1B (F1120C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288438	NM_001365951.3(KIF1B):c.1521T>G (p.Ala507=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288437	NM_001365951.3(KIF1B):c.342C>A (p.Ser114Arg)	KIF1B (S114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288436	NM_001365951.3(KIF1B):c.3597G>A (p.Gln1199=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288435	NM_001365951.3(KIF1B):c.2893G>T (p.Asp965Tyr)	KIF1B, LOC126805614 (D965Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288433	NM_001365951.3(KIF1B):c.2439A>C (p.Lys813Asn)	KIF1B (K767N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288432	NM_001365951.3(KIF1B):c.1408G>A (p.Gly470Arg)	KIF1B (G470R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288431	NM_001365951.3(KIF1B):c.819G>T (p.Lys273Asn)	KIF1B (K273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288430	NM_001365951.3(KIF1B):c.2172T>A (p.Ala724=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288429	NM_001365951.3(KIF1B):c.4770C>A (p.Thr1590=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288428	NM_001365951.3(KIF1B):c.2996A>G (p.Lys999Arg)	KIF1B (K953R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288427	NM_001365951.3(KIF1B):c.1364del (p.Thr455fs)	KIF1B (T455fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3288426	NM_001365951.3(KIF1B):c.1515-3T>C	KIF1B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3288425	NM_001365951.3(KIF1B):c.2703C>A (p.Asn901Lys)	KIF1B, LOC126805614 (N855K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288424	NM_001365951.3(KIF1B):c.727A>G (p.Lys243Glu)	KIF1B (K243E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288423	NM_001365951.3(KIF1B):c.483A>G (p.Lys161=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288422	NM_001365951.3(KIF1B):c.1152T>A (p.Arg384=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288421	NM_001365951.3(KIF1B):c.2513A>G (p.His838Arg)	KIF1B (H792R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288420	NM_001365951.3(KIF1B):c.4066C>A (p.Arg1356Ser)	KIF1B (R1310S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288419	NM_001365951.3(KIF1B):c.5346C>G (p.Leu1782=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288418	NM_001365951.3(KIF1B):c.5093C>G (p.Pro1698Arg)	KIF1B (P1698R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288417	NM_001365951.3(KIF1B):c.4138A>C (p.Lys1380Gln)	KIF1B (K1334Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288416	NM_001365951.3(KIF1B):c.2266T>A (p.Ser756Thr)	KIF1B (S710T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288415	NM_001365951.3(KIF1B):c.2975G>A (p.Arg992Lys)	KIF1B (R946K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288414	NM_001365951.3(KIF1B):c.2986G>T (p.Val996Phe)	KIF1B (V996F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288413	NM_001365951.3(KIF1B):c.2468C>G (p.Thr823Arg)	KIF1B (T823R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288412	NM_001365951.3(KIF1B):c.416C>T (p.Ser139Phe)	KIF1B, LOC129388447 (S139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288411	NM_001365951.3(KIF1B):c.741G>C (p.Val247=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288410	NM_001365951.3(KIF1B):c.4774A>T (p.Thr1592Ser)	KIF1B (T1546S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288409	NM_001365951.3(KIF1B):c.4396G>C (p.Asp1466His)	KIF1B (D1420H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288408	NM_001365951.3(KIF1B):c.3948A>G (p.Val1316=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288407	NM_001365951.3(KIF1B):c.3366A>G (p.Thr1122=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288406	NM_001365951.3(KIF1B):c.4721T>C (p.Leu1574Pro)	KIF1B (L1528P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288405	NM_001365951.3(KIF1B):c.1004A>G (p.Asp335Gly)	KIF1B (D329G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288404	NM_001365951.3(KIF1B):c.1434+2T>C	KIF1B	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 3288403	NM_001365951.3(KIF1B):c.4539G>A (p.Leu1513=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288402	NM_001365951.3(KIF1B):c.2928A>C (p.Ala976=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288401	NM_001365951.3(KIF1B):c.3984T>C (p.Ala1328=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288400	NM_001365951.3(KIF1B):c.59C>A (p.Thr20Asn)	KIF1B, LOC129388446 (T20N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288399	NM_001365951.3(KIF1B):c.3541G>A (p.Val1181Met)	KIF1B (V1135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288398	NM_001365951.3(KIF1B):c.4924A>G (p.Arg1642Gly)	KIF1B (R1596G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288396	NM_001365951.3(KIF1B):c.4505T>C (p.Leu1502Pro)	KIF1B (L1456P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288395	NM_001365951.3(KIF1B):c.394G>A (p.Asp132Asn)	KIF1B, LOC129388447 (D132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288394	NM_001365951.3(KIF1B):c.2875G>A (p.Gly959Arg)	KIF1B, LOC126805614 (G913R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288393	NM_001365951.3(KIF1B):c.4317T>G (p.Thr1439=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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