LOC126859757[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 155190	GRCh38/hg38 6q21(chr6:105833853-106582592)x3	ATG5, CRYBG1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 155040	GRCh38/hg38 6q21(chr6:105922825-106683920)x3	ATG5, CRYBG1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59524	GRCh38/hg38 6q21(chr6:106143607-106716817)x3	ATG5, CRYBG1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 152410	GRCh38/hg38 6q21(chr6:106477579-106540582)x3	CRYBG1, LOC126859757 +4 more	Copy number gain	See cases	GLikely benign
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 2460608	NM_001371242.2(CRYBG1):c.2063G>A (p.Arg688Gln)	CRYBG1, LOC126859757 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077792	NM_001371242.2(CRYBG1):c.2084A>G (p.His695Arg)	CRYBG1, LOC126859757 (H287R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269660	NM_001371242.2(CRYBG1):c.2105G>A (p.Arg702Lys)	CRYBG1, LOC126859757 (R702K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077793	NM_001371242.2(CRYBG1):c.2129C>T (p.Thr710Met)	CRYBG1, LOC126859757 (T302M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560387	NM_001371242.2(CRYBG1):c.2143G>A (p.Ala715Thr)	CRYBG1, LOC126859757 (A307T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269682	NM_001371242.2(CRYBG1):c.2234A>C (p.Lys745Thr)	CRYBG1, LOC126859757 (K745T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269669	NM_001371242.2(CRYBG1):c.2245A>G (p.Ile749Val)	CRYBG1, LOC126859757 (I749V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077716	NM_001371242.2(CRYBG1):c.2267C>T (p.Ser756Leu)	CRYBG1, LOC126859757 (S348L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610332	NM_001371242.2(CRYBG1):c.2429A>G (p.His810Arg)	CRYBG1, LOC126859757 (H402R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077717	NM_001371242.2(CRYBG1):c.2482C>T (p.Leu828Phe)	CRYBG1, LOC126859757 (L420F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269666	NM_001371242.2(CRYBG1):c.2501C>G (p.Thr834Arg)	CRYBG1, LOC126859757 (T426R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269676	NM_001371242.2(CRYBG1):c.2549C>T (p.Thr850Met)	CRYBG1, LOC126859757 (T442M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077718	NM_001371242.2(CRYBG1):c.2549C>G (p.Thr850Arg)	CRYBG1, LOC126859757 (T442R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077719	NM_001371242.2(CRYBG1):c.2552C>T (p.Ala851Val)	CRYBG1, LOC126859757 (A443V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025979	NM_001371242.2(CRYBG1):c.2636C>A (p.Pro879His)	CRYBG1, LOC126859757 (P471H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656805	NM_001371242.2(CRYBG1):c.2748T>C (p.Ser916=)	CRYBG1, LOC126859757	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077720	NM_001371242.2(CRYBG1):c.2749C>T (p.Arg917Cys)	CRYBG1, LOC126859757 (R509C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594623	NM_001371242.2(CRYBG1):c.2769G>A (p.Met923Ile)	CRYBG1, LOC126859757 (M515I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077722	NM_001371242.2(CRYBG1):c.2771C>T (p.Pro924Leu)	CRYBG1, LOC126859757 (P924L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077723	NM_001371242.2(CRYBG1):c.2845T>C (p.Cys949Arg)	CRYBG1, LOC126859757 (C541R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623435	NM_001371242.2(CRYBG1):c.2845T>G (p.Cys949Gly)	CRYBG1, LOC126859757 (C541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077724	NM_001371242.2(CRYBG1):c.2847T>G (p.Cys949Trp)	CRYBG1, LOC126859757 (C541W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077726	NM_001371242.2(CRYBG1):c.2863G>C (p.Val955Leu)	CRYBG1, LOC126859757 (V955L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077725	NM_001371242.2(CRYBG1):c.2863G>A (p.Val955Ile)	CRYBG1, LOC126859757 (V955I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077727	NM_001371242.2(CRYBG1):c.2879T>G (p.Phe960Cys)	CRYBG1, LOC126859757 (F960C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077728	NM_001371242.2(CRYBG1):c.2887C>T (p.Pro963Ser)	CRYBG1, LOC126859757 (P555S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591908	NM_001371242.2(CRYBG1):c.2908G>A (p.Val970Met)	CRYBG1, LOC126859757 (V970M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077730	NM_001371242.2(CRYBG1):c.2924T>A (p.Ile975Asn)	CRYBG1, LOC126859757 (I567N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077731	NM_001371242.2(CRYBG1):c.2926C>T (p.Pro976Ser)	CRYBG1, LOC126859757 (P568S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656806	NM_001371242.2(CRYBG1):c.2982T>G (p.Pro994=)	CRYBG1, LOC126859757	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077732	NM_001371242.2(CRYBG1):c.3010C>T (p.Pro1004Ser)	CRYBG1, LOC126859757 (P1004S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269680	NM_001371242.2(CRYBG1):c.3019G>A (p.Glu1007Lys)	CRYBG1, LOC126859757 (E599K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520581	NM_001371242.2(CRYBG1):c.3020A>T (p.Glu1007Val)	CRYBG1, LOC126859757 (E599V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269672	NM_001371242.2(CRYBG1):c.3040C>T (p.His1014Tyr)	CRYBG1, LOC126859757 (H1014Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483121	NM_001371242.2(CRYBG1):c.3121C>G (p.Gln1041Glu)	CRYBG1, LOC126859757 (Q633E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077733	NM_001371242.2(CRYBG1):c.3169C>T (p.Pro1057Ser)	CRYBG1, LOC126859757 (P1057S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077734	NM_001371242.2(CRYBG1):c.3170C>T (p.Pro1057Leu)	CRYBG1, LOC126859757 (P649L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507498	NM_001371242.2(CRYBG1):c.3173C>A (p.Thr1058Asn)	CRYBG1, LOC126859757 (T650N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472080	NM_001371242.2(CRYBG1):c.3190G>A (p.Gly1064Arg)	CRYBG1, LOC126859757 (G656R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518411	NM_001371242.2(CRYBG1):c.3205A>G (p.Thr1069Ala)	CRYBG1, LOC126859757 (T661A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 50