"Ambry Genetics"[submitter] AND "LOC126805614"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1792772	NM_001365951.3(KIF1B):c.2676-5T>G	KIF1B, LOC126805614	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 1792775	NM_001365951.3(KIF1B):c.2676C>G (p.Ser892Arg)	KIF1B, LOC126805614 (S892R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1792828	NM_001365951.3(KIF1B):c.2679C>T (p.Ser893=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1319767	NM_001365951.3(KIF1B):c.2681C>G (p.Pro894Arg)	KIF1B, LOC126805614 (P848R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1792866	NM_001365951.3(KIF1B):c.2682C>G (p.Pro894=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1792874	NM_001365951.3(KIF1B):c.2683A>G (p.Ile895Val)	KIF1B, LOC126805614 (I895V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 476783	NM_001365951.3(KIF1B):c.2691C>T (p.His897=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 1792993	NM_001365951.3(KIF1B):c.2692G>A (p.Gly898Ser)	KIF1B, LOC126805614 (G852S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 951933	NM_001365951.3(KIF1B):c.2693G>A (p.Gly898Asp)	KIF1B, LOC126805614 (G898D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	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 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 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 1127840	NM_001365951.3(KIF1B):c.2703C>T (p.Asn901=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 1319766	NM_001365951.3(KIF1B):c.2704G>A (p.Glu902Lys)	KIF1B, LOC126805614 (E856K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1793194	NM_001365951.3(KIF1B):c.2707C>T (p.Arg903Cys)	KIF1B, LOC126805614 (R857C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793239	NM_001365951.3(KIF1B):c.2708G>A (p.Arg903His)	KIF1B, LOC126805614 (R857H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1462658	NM_001365951.3(KIF1B):c.2708G>C (p.Arg903Pro)	KIF1B, LOC126805614 (R857P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1793308	NM_001365951.3(KIF1B):c.2714C>G (p.Ala905Gly)	KIF1B, LOC126805614 (A905G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1140242	NM_001365951.3(KIF1B):c.2715C>T (p.Ala905=)	LOC126805614, KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
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 1793335	NM_001365951.3(KIF1B):c.2716G>T (p.Asp906Tyr)	KIF1B, LOC126805614 (D860Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1400237	NM_001365951.3(KIF1B):c.2716G>A (p.Asp906Asn)	KIF1B, LOC126805614 (D860N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1359373	NM_001365951.3(KIF1B):c.2719C>T (p.Arg907Cys)	KIF1B, LOC126805614 (R861C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1441534	NM_001365951.3(KIF1B):c.2720G>A (p.Arg907His)	KIF1B, LOC126805614 (R907H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1793402	NM_001365951.3(KIF1B):c.2721C>T (p.Arg907=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1793410	NM_001365951.3(KIF1B):c.2722A>G (p.Thr908Ala)	KIF1B, LOC126805614 (T862A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1605387	NM_001365951.3(KIF1B):c.2724A>C (p.Thr908=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1793442	NM_001365951.3(KIF1B):c.2725C>A (p.Pro909Thr)	KIF1B, LOC126805614 (P863T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793455	NM_001365951.3(KIF1B):c.2727C>G (p.Pro909=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 702943	NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
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 1793534	NM_001365951.3(KIF1B):c.2730C>A (p.Ser910=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1793554	NM_001365951.3(KIF1B):c.2732C>G (p.Pro911Arg)	KIF1B, LOC126805614 (P865R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793560	NM_001365951.3(KIF1B):c.2733C>G (p.Pro911=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1107232	NM_001365951.3(KIF1B):c.2733C>A (p.Pro911=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1090987	NM_001365951.3(KIF1B):c.2733C>T (p.Pro911=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1793568	NM_001365951.3(KIF1B):c.2734A>G (p.Thr912Ala)	KIF1B, LOC126805614 (T866A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1793702	NM_001365951.3(KIF1B):c.2741C>T (p.Ser914Phe)	KIF1B, LOC126805614 (S868F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 946000	NM_001365951.3(KIF1B):c.2744C>T (p.Thr915Met)	KIF1B, LOC126805614 (T915M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	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 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 1793793	NM_001365951.3(KIF1B):c.2748C>G (p.Ala916=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1130790	NM_001365951.3(KIF1B):c.2748C>T (p.Ala916=)	LOC126805614, KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1367912	NM_001365951.3(KIF1B):c.2749G>A (p.Asp917Asn)	KIF1B, LOC126805614 (D917N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1793858	NM_001365951.3(KIF1B):c.2754C>T (p.Ser918=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 696859	NM_001365951.3(KIF1B):c.2757C>T (p.Asp919=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 1793994	NM_001365951.3(KIF1B):c.2763T>C (p.Thr921=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1794021	NM_001365951.3(KIF1B):c.2767C>T (p.Leu923=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	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 2560526	NM_001365951.3(KIF1B):c.2769G>C (p.Leu923=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1794110	NM_001365951.3(KIF1B):c.2773G>A (p.Asp925Asn)	KIF1B, LOC126805614 (D925N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1153150	NM_001365951.3(KIF1B):c.2775C>T (p.Asp925=)	LOC126805614, KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1794147	NM_001365951.3(KIF1B):c.2776G>A (p.Glu926Lys)	KIF1B, LOC126805614 (E926K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 1794222	NM_001365951.3(KIF1B):c.2781G>A (p.Gln927=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1389657	NM_001365951.3(KIF1B):c.2786A>T (p.Asp929Val)	KIF1B, LOC126805614 (D883V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	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 1794406	NM_001365951.3(KIF1B):c.2796G>A (p.Glu932=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 1794494	NM_001365951.3(KIF1B):c.2803G>C (p.Asp935His)	KIF1B, LOC126805614 (D935H +1 more)	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 1794518	NM_001365951.3(KIF1B):c.2806G>A (p.Asp936Asn)	KIF1B, LOC126805614 (D890N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1794604	NM_001365951.3(KIF1B):c.2814A>G (p.Ala938=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1794636	NM_001365951.3(KIF1B):c.2817C>T (p.Phe939=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1794634	NM_001365951.3(KIF1B):c.2817C>A (p.Phe939Leu)	KIF1B, LOC126805614 (F939L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1355316	NM_001365951.3(KIF1B):c.2818G>A (p.Val940Met)	KIF1B, LOC126805614 (V894M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1116795	NM_001365951.3(KIF1B):c.2820G>A (p.Val940=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
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 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 2563639	NM_001365951.3(KIF1B):c.2823T>C (p.Asp941=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1400116	NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn)	KIF1B, LOC126805614 (D896N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1794738	NM_001365951.3(KIF1B):c.2825A>G (p.Asp942Gly)	KIF1B, LOC126805614 (D896G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1794747	NM_001365951.3(KIF1B):c.2826C>T (p.Asp942=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 543173	NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr)	KIF1B, LOC126805614 (A897T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
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 696463	NM_001365951.3(KIF1B):c.2829C>T (p.Ala943=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 291562	NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)	KIF1B, LOC126805614 (G898S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +2 more	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
Select item 1467554	NM_001365951.3(KIF1B):c.2837A>G (p.Asp946Gly)	KIF1B, LOC126805614 (D946G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	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 1127157	NM_001365951.3(KIF1B):c.2838C>T (p.Asp946=)	LOC126805614, KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +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 1414744	NM_001365951.3(KIF1B):c.2839G>T (p.Ala947Ser)	KIF1B, LOC126805614 (A901S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 845482	NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)	KIF1B, LOC126805614 (T949M +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
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 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 1795107	NM_001365951.3(KIF1B):c.2853G>A (p.Glu951=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1795194	NM_001365951.3(KIF1B):c.2859A>C (p.Ser953=)	KIF1B, LOC126805614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1693747	NM_001365951.3(KIF1B):c.2860G>C (p.Asp954His)	KIF1B, LOC126805614 (D908H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1795234	NM_001365951.3(KIF1B):c.2863C>T (p.Leu955Phe)	KIF1B, LOC126805614 (L909F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance

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