CRYBG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 3077874	NM_001039775.4(CRYBG2):c.4978G>A (p.Val1660Met)	CRYBG2 (V1660M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077873	NM_001039775.4(CRYBG2):c.4952G>A (p.Arg1651Lys)	CRYBG2 (R1651K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077872	NM_001039775.4(CRYBG2):c.4940C>T (p.Pro1647Leu)	CRYBG2 (P1647L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077870	NM_001039775.4(CRYBG2):c.4933T>C (p.Trp1645Arg)	CRYBG2 (W1645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077868	NM_001039775.4(CRYBG2):c.4915C>T (p.Arg1639Trp)	CRYBG2 (R1639W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077867	NM_001039775.4(CRYBG2):c.4906G>A (p.Gly1636Ser)	CRYBG2 (G1636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077866	NM_001039775.4(CRYBG2):c.4903C>T (p.Arg1635Trp)	CRYBG2 (R1635W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543461	NM_001039775.4(CRYBG2):c.4891G>A (p.Val1631Met)	CRYBG2 (V1631M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513758	NM_001039775.4(CRYBG2):c.4868T>C (p.Met1623Thr)	CRYBG2 (M1623T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486460	NM_001039775.4(CRYBG2):c.4835G>A (p.Ser1612Asn)	CRYBG2 (S1612N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523953	NM_001039775.4(CRYBG2):c.4814G>A (p.Arg1605His)	CRYBG2 (R1605H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077865	NM_001039775.4(CRYBG2):c.4813C>T (p.Arg1605Cys)	CRYBG2 (R1605C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077864	NM_001039775.4(CRYBG2):c.4807G>A (p.Glu1603Lys)	CRYBG2 (E1603K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077863	NM_001039775.4(CRYBG2):c.4735C>G (p.Gln1579Glu)	CRYBG2 (Q1579E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077861	NM_001039775.4(CRYBG2):c.4703T>C (p.Ile1568Thr)	CRYBG2 (I1568T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077860	NM_001039775.4(CRYBG2):c.4669G>C (p.Val1557Leu)	CRYBG2 (V1557L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618946	NM_001039775.4(CRYBG2):c.4595G>A (p.Arg1532His)	CRYBG2 (R1532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077859	NM_001039775.4(CRYBG2):c.4580G>A (p.Arg1527His)	CRYBG2 (R1527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077858	NM_001039775.4(CRYBG2):c.4579C>T (p.Arg1527Cys)	CRYBG2 (R1527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638509	NM_001039775.4(CRYBG2):c.4575G>A (p.Lys1525=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569945	NM_001039775.4(CRYBG2):c.4501G>C (p.Val1501Leu)	CRYBG2 (V1501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077857	NM_001039775.4(CRYBG2):c.4490G>T (p.Arg1497Leu)	CRYBG2 (R1497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077856	NM_001039775.4(CRYBG2):c.4360G>C (p.Glu1454Gln)	CRYBG2 (E1454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077855	NM_001039775.4(CRYBG2):c.4352A>C (p.Glu1451Ala)	CRYBG2 (E1451A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077854	NM_001039775.4(CRYBG2):c.4327C>G (p.Pro1443Ala)	CRYBG2 (P1443A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544458	NM_001039775.4(CRYBG2):c.4327C>T (p.Pro1443Ser)	CRYBG2 (P1443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077853	NM_001039775.4(CRYBG2):c.4309T>A (p.Ser1437Thr)	CRYBG2 (S1437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077852	NM_001039775.4(CRYBG2):c.4285G>T (p.Val1429Phe)	CRYBG2 (V1429F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077851	NM_001039775.4(CRYBG2):c.4276G>A (p.Ala1426Thr)	CRYBG2 (A1426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614264	NM_001039775.4(CRYBG2):c.4259C>T (p.Thr1420Met)	CRYBG2 (T1420M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542924	NM_001039775.4(CRYBG2):c.3993G>C (p.Trp1331Cys)	CRYBG2, LOC129929816 (W1331C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077848	NM_001039775.4(CRYBG2):c.3880A>C (p.Ser1294Arg)	CRYBG2 (S1294R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638510	NM_001039775.4(CRYBG2):c.3825C>T (p.His1275=)	CRYBG2, LOC129929817	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077845	NM_001039775.4(CRYBG2):c.3674G>A (p.Arg1225Gln)	CRYBG2 (R1225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077844	NM_001039775.4(CRYBG2):c.3656A>G (p.Tyr1219Cys)	CRYBG2 (Y1219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077843	NM_001039775.4(CRYBG2):c.3637G>A (p.Gly1213Arg)	CRYBG2 (G1213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530820	NM_001039775.4(CRYBG2):c.3573C>A (p.Asn1191Lys)	CRYBG2 (N1191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077842	NM_001039775.4(CRYBG2):c.3541C>T (p.Arg1181Cys)	CRYBG2 (R1181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559057	NM_001039775.4(CRYBG2):c.3460C>T (p.Pro1154Ser)	CRYBG2 (P1154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077840	NM_001039775.4(CRYBG2):c.3416C>T (p.Ser1139Leu)	CRYBG2 (S1139L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077839	NM_001039775.4(CRYBG2):c.3397C>A (p.Pro1133Thr)	CRYBG2 (P1133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077838	NM_001039775.4(CRYBG2):c.3320C>T (p.Ala1107Val)	CRYBG2 (A1107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077837	NM_001039775.4(CRYBG2):c.3313C>A (p.Gln1105Lys)	CRYBG2 (Q1105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077836	NM_001039775.4(CRYBG2):c.3310C>A (p.Leu1104Met)	CRYBG2 (L1104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077835	NM_001039775.4(CRYBG2):c.3232T>C (p.Phe1078Leu)	CRYBG2 (F1078L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077834	NM_001039775.4(CRYBG2):c.3212G>C (p.Ser1071Thr)	CRYBG2 (S1071T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077833	NM_001039775.4(CRYBG2):c.3209A>G (p.Tyr1070Cys)	CRYBG2 (Y1070C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454635	NM_001039775.4(CRYBG2):c.3181G>A (p.Gly1061Ser)	CRYBG2 (G1061S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077831	NM_001039775.4(CRYBG2):c.3091G>C (p.Glu1031Gln)	CRYBG2 (E1031Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077829	NM_001039775.4(CRYBG2):c.2920G>C (p.Ala974Pro)	CRYBG2 (A974P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077828	NM_001039775.4(CRYBG2):c.2911T>A (p.Trp971Arg)	CRYBG2 (W971R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638511	NM_001039775.4(CRYBG2):c.2896C>T (p.Leu966=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077827	NM_001039775.4(CRYBG2):c.2882A>G (p.Lys961Arg)	CRYBG2 (K961R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463429	NM_001039775.4(CRYBG2):c.2876C>A (p.Thr959Lys)	CRYBG2 (T959K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077826	NM_001039775.4(CRYBG2):c.2731G>A (p.Gly911Ser)	CRYBG2 (G911S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077825	NM_001039775.4(CRYBG2):c.2717G>T (p.Gly906Val)	CRYBG2 (G906V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603719	NM_001039775.4(CRYBG2):c.2657C>G (p.Pro886Arg)	CRYBG2 (P886R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077824	NM_001039775.4(CRYBG2):c.2637T>G (p.His879Gln)	CRYBG2 (H879Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077823	NM_001039775.4(CRYBG2):c.2637T>A (p.His879Gln)	CRYBG2 (H879Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077822	NM_001039775.4(CRYBG2):c.2574G>C (p.Arg858Ser)	CRYBG2 (R858S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077820	NM_001039775.4(CRYBG2):c.2493G>T (p.Glu831Asp)	CRYBG2 (E831D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463203	NM_001039775.4(CRYBG2):c.2488G>A (p.Glu830Lys)	CRYBG2 (E830K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077819	NM_001039775.4(CRYBG2):c.2446G>A (p.Gly816Arg)	CRYBG2 (G816R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517740	NM_001039775.4(CRYBG2):c.2405C>T (p.Ala802Val)	CRYBG2 (A802V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077818	NM_001039775.4(CRYBG2):c.2371T>A (p.Ser791Thr)	CRYBG2 (S791T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077817	NM_001039775.4(CRYBG2):c.2320A>T (p.Met774Leu)	CRYBG2 (M774L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521551	NM_001039775.4(CRYBG2):c.2314C>T (p.Arg772Trp)	CRYBG2 (R772W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077816	NM_001039775.4(CRYBG2):c.2272G>C (p.Val758Leu)	CRYBG2 (V758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467395	NM_001039775.4(CRYBG2):c.2267A>G (p.Asp756Gly)	CRYBG2 (D756G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077815	NM_001039775.4(CRYBG2):c.2251A>G (p.Thr751Ala)	CRYBG2 (T751A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526513	NM_001039775.4(CRYBG2):c.2246C>G (p.Thr749Arg)	CRYBG2 (T749R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077814	NM_001039775.4(CRYBG2):c.2240C>T (p.Thr747Met)	CRYBG2 (T747M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077813	NM_001039775.4(CRYBG2):c.2224C>T (p.Pro742Ser)	CRYBG2 (P742S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638512	NM_001039775.4(CRYBG2):c.2201C>T (p.Thr734Met)	CRYBG2 (T734M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2507690	NM_001039775.4(CRYBG2):c.2149C>T (p.Pro717Ser)	CRYBG2 (P717S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077811	NM_001039775.4(CRYBG2):c.2143G>T (p.Val715Leu)	CRYBG2 (V715L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077810	NM_001039775.4(CRYBG2):c.2102A>G (p.Asp701Gly)	CRYBG2 (D701G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077809	NM_001039775.4(CRYBG2):c.2064C>A (p.Ser688Arg)	CRYBG2 (S688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077808	NM_001039775.4(CRYBG2):c.2063G>A (p.Ser688Asn)	CRYBG2 (S688N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077806	NM_001039775.4(CRYBG2):c.2002C>T (p.Pro668Ser)	CRYBG2 (P668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077805	NM_001039775.4(CRYBG2):c.1970C>T (p.Pro657Leu)	CRYBG2 (P657L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077804	NM_001039775.4(CRYBG2):c.1960A>C (p.Ser654Arg)	CRYBG2 (S654R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272380	NM_001039775.4(CRYBG2):c.1901T>C (p.Val634Ala)	CRYBG2 (V634A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3077803	NM_001039775.4(CRYBG2):c.1853A>C (p.Gln618Pro)	CRYBG2 (Q618P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077802	NM_001039775.4(CRYBG2):c.1822G>A (p.Ala608Thr)	CRYBG2 (A608T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077801	NM_001039775.4(CRYBG2):c.1778C>T (p.Ser593Leu)	CRYBG2 (S593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485738	NM_001039775.4(CRYBG2):c.1766C>T (p.Pro589Leu)	CRYBG2 (P589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511310	NM_001039775.4(CRYBG2):c.1760G>A (p.Gly587Asp)	CRYBG2 (G587D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638513	NM_001039775.4(CRYBG2):c.1707T>C (p.Ser569=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638514	NM_001039775.4(CRYBG2):c.1632C>A (p.Thr544=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638515	NM_001039775.4(CRYBG2):c.1626T>C (p.Phe542=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638516	NM_001039775.4(CRYBG2):c.1623A>G (p.Ser541=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638517	NM_001039775.4(CRYBG2):c.1581C>A (p.Thr527=)	CRYBG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521841	NM_001039775.4(CRYBG2):c.1562C>T (p.Pro521Leu)	CRYBG2 (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077800	NM_001039775.4(CRYBG2):c.1555A>G (p.Ser519Gly)	CRYBG2 (S519G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077799	NM_001039775.4(CRYBG2):c.1553C>T (p.Ser518Phe)	CRYBG2 (S518F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077798	NM_001039775.4(CRYBG2):c.1505G>C (p.Gly502Ala)	CRYBG2 (G502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077797	NM_001039775.4(CRYBG2):c.1501C>T (p.Pro501Ser)	CRYBG2 (P501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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