Related gene-specific medical variations for Gene (Select 23095) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 272

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3288412	NM_001365951.3(KIF1B):c.416C>T (p.Ser139Phe)	KIF1B, LOC129388447 (S139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3288373	NM_001365951.3(KIF1B):c.2838C>A (p.Asp946Glu)	KIF1B, LOC126805614 (D900E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288360	NM_001365951.3(KIF1B):c.2694C>A (p.Gly898=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3247858	NC_000001.10:g.(?_10431179)_(10431340_?)del	KIF1B	Deletion	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3226559	NM_001365951.3(KIF1B):c.74A>G (p.Lys25Arg)	KIF1B, LOC129388446 (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226545	NM_001365951.3(KIF1B):c.53G>A (p.Arg18Gln)	KIF1B, LOC129388446 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226514	NM_001365951.3(KIF1B):c.46A>T (p.Asn16Tyr)	KIF1B, LOC129388446 (N16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226493	NM_001365951.3(KIF1B):c.421T>C (p.Ser141Pro)	KIF1B, LOC129388447 (S141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226444	NM_001365951.3(KIF1B):c.31C>A (p.Arg11=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3226415	NM_001365951.3(KIF1B):c.2896C>T (p.Arg966Ter)	KIF1B, LOC126805614 (R920* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3226414	NM_001365951.3(KIF1B):c.2858C>T (p.Ser953Leu)	KIF1B, LOC126805614 (S907L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226412	NM_001365951.3(KIF1B):c.2778G>C (p.Glu926Asp)	KIF1B, LOC126805614 (E880D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226411	NM_001365951.3(KIF1B):c.2771C>A (p.Ala924Asp)	KIF1B, LOC126805614 (A878D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226410	NM_001365951.3(KIF1B):c.2758A>G (p.Ile920Val)	KIF1B, LOC126805614 (I874V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226409	NM_001365951.3(KIF1B):c.2755G>A (p.Asp919Asn)	KIF1B, LOC126805614 (D873N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226408	NM_001365951.3(KIF1B):c.2747C>G (p.Ala916Gly)	KIF1B, LOC126805614 (A870G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226407	NM_001365951.3(KIF1B):c.2745G>A (p.Thr915=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3226405	NM_001365951.3(KIF1B):c.2729C>T (p.Ser910Phe)	KIF1B, LOC126805614 (S864F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226335	NM_001365951.3(KIF1B):c.102G>C (p.Ser34=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3114580	NM_001365951.3(KIF1B):c.412A>G (p.Met138Val)	KIF1B, LOC129388447 (M138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030496	NM_001365951.3(KIF1B):c.2811G>A (p.Glu937=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	KIF1B-related disorder	GLikely benign
Select item 3017585	NM_001365951.3(KIF1B):c.2760C>T (p.Ile920=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2884889	NM_001365951.3(KIF1B):c.2918T>G (p.Val973Gly)	KIF1B, LOC126805614 (V973G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2850039	NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)	KIF1B, LOC129388446 (S17P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2829807	NM_001365951.3(KIF1B):c.2678C>T (p.Ser893Phe)	KIF1B, LOC126805614 (S847F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2826085	NM_001365951.3(KIF1B):c.2753C>T (p.Ser918Phe)	KIF1B, LOC126805614 (S918F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2820553	NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2762792	NM_001365951.3(KIF1B):c.400T>C (p.Cys134Arg)	KIF1B, LOC129388447 (C134R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2738982	NM_001365951.3(KIF1B):c.364-15A>C	KIF1B, LOC129388447	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2738427	NM_001365951.3(KIF1B):c.23T>C (p.Val8Ala)	KIF1B, LOC129388446 (V8A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2734123	NM_001365951.3(KIF1B):c.2854G>C (p.Gly952Arg)	KIF1B, LOC126805614 (G906R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2730300	NM_001365951.3(KIF1B):c.106+19C>T	KIF1B, LOC129388446	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2730142	NM_001365951.3(KIF1B):c.2924+18G>T	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2625750	NM_001365951.3(KIF1B):c.2769G>A (p.Leu923=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625745	NM_001365951.3(KIF1B):c.2870G>A (p.Ser957Asn)	KIF1B, LOC126805614 (S911N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625177	NM_001365951.3(KIF1B):c.2918T>C (p.Val973Ala)	KIF1B, LOC126805614 (V927A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577888	NM_001365951.3(KIF1B):c.2115+7343G>A	KIF1B (R1135Q)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 2577887	NM_001365951.3(KIF1B):c.2115+6980A>G	KIF1B (K1014R)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1	GUncertain significance
Select item 2563665	NM_001365951.3(KIF1B):c.376C>G (p.Leu126Val)	KIF1B, LOC129388447 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563639	NM_001365951.3(KIF1B):c.2823T>C (p.Asp941=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563626	NM_001365951.3(KIF1B):c.60C>A (p.Thr20=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563622	NM_001365951.3(KIF1B):c.2829C>A (p.Ala943=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563614	NM_001365951.3(KIF1B):c.2822A>C (p.Asp941Ala)	KIF1B, LOC126805614 (D895A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563613	NM_001365951.3(KIF1B):c.2821G>T (p.Asp941Tyr)	KIF1B, LOC126805614 (D941Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563612	NM_001365951.3(KIF1B):c.2821_2822inv (p.Asp941Ser)	KIF1B, LOC126805614 (D941S +1 more)	Inversion (missense variant)	not specified	GUncertain significance
Select item 2563587	NM_001365951.3(KIF1B):c.2696G>A (p.Cys899Tyr)	KIF1B, LOC126805614 (C853Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2561707	NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)	KIF1B, LOC129388446 (I27V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2561706	NM_001365951.3(KIF1B):c.2782C>G (p.Gln928Glu)	KIF1B, LOC126805614 (Q882E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561691	NM_001365951.3(KIF1B):c.2797G>A (p.Asp933Asn)	KIF1B, LOC126805614 (D887N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560526	NM_001365951.3(KIF1B):c.2769G>C (p.Leu923=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560515	NM_001365951.3(KIF1B):c.364T>C (p.Leu122=)	KIF1B, LOC129388447	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560514	NM_001365951.3(KIF1B):c.366A>T (p.Leu122Phe)	KIF1B, LOC129388447 (L122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560511	NM_001365951.3(KIF1B):c.2806G>C (p.Asp936His)	KIF1B, LOC126805614 (D890H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497125	NM_001365951.3(KIF1B):c.2716G>C (p.Asp906His)	KIF1B, LOC126805614 (D860H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497124	NM_001365951.3(KIF1B):c.2791A>G (p.Met931Val)	KIF1B, LOC126805614 (M885V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497117	NM_001365951.3(KIF1B):c.2817C>G (p.Phe939Leu)	KIF1B, LOC126805614 (F893L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448796	NM_001365951.3(KIF1B):c.103A>G (p.Thr35Ala)	KIF1B, LOC129388446 (T35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448776	NM_001365951.3(KIF1B):c.2895C>T (p.Asp965=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448767	NM_001365951.3(KIF1B):c.429G>C (p.Glu143Asp)	KIF1B, LOC129388447 (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448750	NM_001365951.3(KIF1B):c.42C>T (p.Pro14=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448744	NM_001365951.3(KIF1B):c.69A>G (p.Glu23=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448710	NM_001365951.3(KIF1B):c.2682C>T (p.Pro894=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448129	NM_001365951.3(KIF1B):c.105C>T (p.Thr35=)	KIF1B, LOC129388446	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2447961	NM_001365951.3(KIF1B):c.399C>T (p.Asn133=)	KIF1B, LOC129388447	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2445412	NM_001365951.3(KIF1B):c.3767T>C (p.Phe1256Ser)	KIF1B (F1210S +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2433133	NM_001365951.3(KIF1B):c.4567C>T (p.Pro1523Ser)	KIF1B (P1477S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1	GUncertain significance
Select item 2192936	NM_001365951.3(KIF1B):c.2924+16G>C	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2157858	NM_001365951.3(KIF1B):c.2924+18G>A	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2154184	NM_001365951.3(KIF1B):c.2924+5G>A	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2141576	NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)	KIF1B, LOC129388446 (N33S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2108485	NM_001365951.3(KIF1B):c.429+13G>T	KIF1B, LOC129388447	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2054610	NM_001365951.3(KIF1B):c.2676-3T>C	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 1986915	NM_001365951.3(KIF1B):c.2876G>T (p.Gly959Val)	KIF1B, LOC126805614 (G959V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1901450	NM_001365951.3(KIF1B):c.2676-19C>T	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1795853	NM_001365951.3(KIF1B):c.2913T>A (p.Ile971=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1795703	NM_001365951.3(KIF1B):c.2899T>A (p.Ser967Thr)	KIF1B, LOC126805614 (S921T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1795685	NM_001365951.3(KIF1B):c.2898A>T (p.Arg966=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1795645	NM_001365951.3(KIF1B):c.2897G>T (p.Arg966Leu)	KIF1B, LOC126805614 (R966L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1795641	NM_001365951.3(KIF1B):c.2897G>A (p.Arg966Gln)	KIF1B, LOC126805614 (R920Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1795509	NM_001365951.3(KIF1B):c.2886G>T (p.Pro962=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1795497	NM_001365951.3(KIF1B):c.2885del (p.Pro962fs)	KIF1B, LOC126805614 (P962fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1795439	NM_001365951.3(KIF1B):c.2879A>G (p.His960Arg)	KIF1B, LOC126805614 (H914R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1795388	NM_001365951.3(KIF1B):c.2877G>T (p.Gly959=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1795387	NM_001365951.3(KIF1B):c.2877G>A (p.Gly959=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1795321	NM_001365951.3(KIF1B):c.2872G>A (p.Asp958Asn)	KIF1B, LOC126805614 (D912N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1795234	NM_001365951.3(KIF1B):c.2863C>T (p.Leu955Phe)	KIF1B, LOC126805614 (L909F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1795194	NM_001365951.3(KIF1B):c.2859A>C (p.Ser953=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1795107	NM_001365951.3(KIF1B):c.2853G>A (p.Glu951=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1795088	NM_001365951.3(KIF1B):c.2850G>A (p.Glu950=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1795018	NM_001365951.3(KIF1B):c.2847G>A (p.Thr949=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1794940	NM_001365951.3(KIF1B):c.2839G>A (p.Ala947Thr)	KIF1B, LOC126805614 (A947T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1794828	NM_001365951.3(KIF1B):c.2832C>T (p.Gly944=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

<< First< Prev

Page of 3