CRYBG1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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 2608170	NM_001371242.2(CRYBG1):c.1271C>T (p.Ser424Leu)	CRYBG1, LOC129996907 (S16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077791	NM_001371242.2(CRYBG1):c.1285G>C (p.Asp429His)	CRYBG1, LOC129996907 (D21H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077729	NM_001371242.2(CRYBG1):c.1390G>C (p.Glu464Gln)	CRYBG1 (E464Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557074	NM_001371242.2(CRYBG1):c.1396A>G (p.Lys466Glu)	CRYBG1 (K466E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077741	NM_001371242.2(CRYBG1):c.1444G>T (p.Ala482Ser)	CRYBG1, LOC129996908 (A482S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077745	NM_001371242.2(CRYBG1):c.1475C>A (p.Thr492Asn)	CRYBG1, LOC129996908 (T492N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077761	NM_001371242.2(CRYBG1):c.1603G>T (p.Ala535Ser)	CRYBG1, LOC129996908 (A535S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598757	NM_001371242.2(CRYBG1):c.1615G>A (p.Glu539Lys)	CRYBG1, LOC129996908 (E131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077771	NM_001371242.2(CRYBG1):c.1667C>T (p.Ala556Val)	CRYBG1, LOC129996908 (A556V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077781	NM_001371242.2(CRYBG1):c.1708G>A (p.Glu570Lys)	CRYBG1 (E162K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077782	NM_001371242.2(CRYBG1):c.1715C>T (p.Pro572Leu)	CRYBG1 (P572L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077790	NM_001371242.2(CRYBG1):c.1807C>G (p.Arg603Gly)	CRYBG1 (R195G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588029	NM_001371242.2(CRYBG1):c.1828G>A (p.Ala610Thr)	CRYBG1 (A610T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468472	NM_001371242.2(CRYBG1):c.1879C>A (p.His627Asn)	CRYBG1 (H627N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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
Select item 2613008	NM_001371242.2(CRYBG1):c.3315G>A (p.Met1105Ile)	CRYBG1 (M697I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077735	NM_001371242.2(CRYBG1):c.3350G>A (p.Ser1117Asn)	CRYBG1 (S1117N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077736	NM_001371242.2(CRYBG1):c.3352G>A (p.Ala1118Thr)	CRYBG1 (A710T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077737	NM_001371242.2(CRYBG1):c.3361A>G (p.Met1121Val)	CRYBG1 (M1121V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077738	NM_001371242.2(CRYBG1):c.3365C>T (p.Pro1122Leu)	CRYBG1 (P714L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077739	NM_001371242.2(CRYBG1):c.3382G>A (p.Ala1128Thr)	CRYBG1 (A1128T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077740	NM_001371242.2(CRYBG1):c.3403G>A (p.Ala1135Thr)	CRYBG1 (A1135T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077742	NM_001371242.2(CRYBG1):c.3494A>G (p.Lys1165Arg)	CRYBG1 (K757R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656807	NM_001371242.2(CRYBG1):c.3588G>A (p.Gln1196=)	CRYBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027336	NM_001371242.2(CRYBG1):c.3596T>C (p.Leu1199Pro)	CRYBG1 (L1199P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3077743	NM_001371242.2(CRYBG1):c.3643G>C (p.Val1215Leu)	CRYBG1 (V1215L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607875	NM_001371242.2(CRYBG1):c.3664A>G (p.Lys1222Glu)	CRYBG1 (K1222E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077744	NM_001371242.2(CRYBG1):c.3682A>T (p.Thr1228Ser)	CRYBG1 (T1228S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569257	NM_001371242.2(CRYBG1):c.3737T>G (p.Leu1246Trp)	CRYBG1, LOC129996909 (L1246W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077746	NM_001371242.2(CRYBG1):c.3767T>C (p.Phe1256Ser)	CRYBG1 (F848S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077747	NM_001371242.2(CRYBG1):c.3781A>G (p.Thr1261Ala)	CRYBG1 (T853A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077748	NM_001371242.2(CRYBG1):c.3830C>T (p.Ser1277Phe)	CRYBG1 (S1277F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539702	NM_001371242.2(CRYBG1):c.3953G>T (p.Ser1318Ile)	CRYBG1 (S910I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077749	NM_001371242.2(CRYBG1):c.3962A>G (p.His1321Arg)	CRYBG1 (H1321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656808	NM_001371242.2(CRYBG1):c.4002G>A (p.Pro1334=)	CRYBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2562330	NM_001371242.2(CRYBG1):c.4037G>A (p.Arg1346Gln)	CRYBG1 (R1346Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618611	NM_001371242.2(CRYBG1):c.4060A>G (p.Thr1354Ala)	CRYBG1 (T946A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077750	NM_001371242.2(CRYBG1):c.4235C>T (p.Ser1412Leu)	CRYBG1 (S1004L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077751	NM_001371242.2(CRYBG1):c.4285C>G (p.Pro1429Ala)	CRYBG1 (P1021A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077752	NM_001371242.2(CRYBG1):c.4315G>A (p.Asp1439Asn)	CRYBG1 (D1439N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077753	NM_001371242.2(CRYBG1):c.4385T>A (p.Val1462Glu)	CRYBG1 (V1054E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077754	NM_001371242.2(CRYBG1):c.4537G>A (p.Asp1513Asn)	CRYBG1 (D1513N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077755	NM_001371242.2(CRYBG1):c.4662A>C (p.Glu1554Asp)	CRYBG1 (E1146D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077756	NM_001371242.2(CRYBG1):c.4710T>G (p.His1570Gln)	CRYBG1 (H1162Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916131	NC_000006.12:g.106539151_106629957del	LOC129389600, LOC129996910 +5 more	Deletion	Macrocephaly +3 more	GUncertain significance
Select item 2579180	GRCh38/hg38 6q21(chr6:106539306-106649299)x1	CRYBG1, LOC123775393 +5 more	Copy number loss	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures	GLikely pathogenic
Select item 2538235	NM_001371242.2(CRYBG1):c.4814C>T (p.Ala1605Val)	CRYBG1 (A1197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077757	NM_001371242.2(CRYBG1):c.4933A>T (p.Thr1645Ser)	CRYBG1 (T1237S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077758	NM_001371242.2(CRYBG1):c.4934C>T (p.Thr1645Ile)	CRYBG1 (T1237I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077759	NM_001371242.2(CRYBG1):c.4976A>G (p.Glu1659Gly)	CRYBG1 (E1659G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077760	NM_001371242.2(CRYBG1):c.4979C>T (p.Ala1660Val)	CRYBG1 (A1252V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530617	NM_001371242.2(CRYBG1):c.5035G>A (p.Gly1679Ser)	CRYBG1 (G1271S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597898	NM_001371242.2(CRYBG1):c.5069C>T (p.Thr1690Ile)	CRYBG1 (T1690I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077762	NM_001371242.2(CRYBG1):c.5117C>G (p.Ala1706Gly)	CRYBG1 (A1298G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077763	NM_001371242.2(CRYBG1):c.5133T>A (p.Asn1711Lys)	CRYBG1 (N1711K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077764	NM_001371242.2(CRYBG1):c.5141T>C (p.Leu1714Pro)	CRYBG1 (L1714P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077765	NM_001371242.2(CRYBG1):c.5158A>G (p.Ile1720Val)	CRYBG1 (I1312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077766	NM_001371242.2(CRYBG1):c.5237T>G (p.Val1746Gly)	CRYBG1 (V1338G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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