CRYBG1[gene] and "single gene"[properties] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269670	NM_001371242.2(CRYBG1):c.1351G>A (p.Glu451Lys)	CRYBG1 (E451K +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 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 3269677	NM_001371242.2(CRYBG1):c.1855G>T (p.Ala619Ser)	CRYBG1 (A211S +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 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 3269661	NM_001371242.2(CRYBG1):c.3517C>T (p.Pro1173Ser)	CRYBG1 (P1173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269662	NM_001371242.2(CRYBG1):c.3569A>C (p.Lys1190Thr)	CRYBG1 (K782T +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 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 3269663	NM_001371242.2(CRYBG1):c.4114C>T (p.His1372Tyr)	CRYBG1 (H1372Y +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 3269671	NM_001371242.2(CRYBG1):c.4279C>A (p.Pro1427Thr)	CRYBG1 (P1019T +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 3269667	NM_001371242.2(CRYBG1):c.4318G>A (p.Val1440Ile)	CRYBG1 (V1440I +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 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 3269665	NM_001371242.2(CRYBG1):c.4853G>A (p.Arg1618His)	CRYBG1 (R1618H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269679	NM_001371242.2(CRYBG1):c.4880A>C (p.Lys1627Thr)	CRYBG1 (K1219T +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 3269668	NM_001371242.2(CRYBG1):c.4990G>A (p.Asp1664Asn)	CRYBG1 (D1256N +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
Select item 2460799	NM_001371242.2(CRYBG1):c.5251G>A (p.Ala1751Thr)	CRYBG1 (A1343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484888	NM_001371242.2(CRYBG1):c.5293A>G (p.Ile1765Val)	CRYBG1 (I1357V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077767	NM_001371242.2(CRYBG1):c.5375A>G (p.Tyr1792Cys)	CRYBG1 (Y1384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077768	NM_001371242.2(CRYBG1):c.5444C>T (p.Ser1815Phe)	CRYBG1 (S1407F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077769	NM_001371242.2(CRYBG1):c.5509A>T (p.Ser1837Cys)	CRYBG1 (S1837C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533789	NM_001371242.2(CRYBG1):c.5615C>G (p.Thr1872Ser)	CRYBG1 (T1872S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077772	NM_001371242.2(CRYBG1):c.5692A>C (p.Lys1898Gln)	CRYBG1 (K1898Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077773	NM_001371242.2(CRYBG1):c.5701C>T (p.Arg1901Cys)	CRYBG1 (R1901C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560700	NM_001371242.2(CRYBG1):c.5704T>A (p.Phe1902Ile)	CRYBG1 (F1494I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269681	NM_001371242.2(CRYBG1):c.5737A>G (p.Ile1913Val)	CRYBG1 (I1505V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509613	NM_001371242.2(CRYBG1):c.5804G>A (p.Arg1935Gln)	CRYBG1 (R1935Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3077774	NM_001371242.2(CRYBG1):c.5822C>T (p.Thr1941Ile)	CRYBG1 (T1941I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077775	NM_001371242.2(CRYBG1):c.5824C>A (p.Gln1942Lys)	CRYBG1 (Q1534K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077776	NM_001371242.2(CRYBG1):c.5831G>A (p.Arg1944His)	CRYBG1 (R1536H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077777	NM_001371242.2(CRYBG1):c.5842G>A (p.Val1948Ile)	CRYBG1 (V1540I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269678	NM_001371242.2(CRYBG1):c.5887G>C (p.Gly1963Arg)	CRYBG1 (G1555R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269675	NM_001371242.2(CRYBG1):c.5942G>A (p.Gly1981Asp)	CRYBG1 (G1573D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077778	NM_001371242.2(CRYBG1):c.5945G>A (p.Cys1982Tyr)	CRYBG1 (C1574Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077779	NM_001371242.2(CRYBG1):c.5947C>T (p.Arg1983Cys)	CRYBG1 (R1983C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077780	NM_001371242.2(CRYBG1):c.5954T>C (p.Ile1985Thr)	CRYBG1 (I1577T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619727	NM_001371242.2(CRYBG1):c.6017G>A (p.Gly2006Glu)	CRYBG1 (G1598E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077783	NM_001371242.2(CRYBG1):c.6164T>C (p.Ile2055Thr)	CRYBG1 (I1647T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077784	NM_001371242.2(CRYBG1):c.6184T>A (p.Ser2062Thr)	CRYBG1 (S2062T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077785	NM_001371242.2(CRYBG1):c.6196C>A (p.Leu2066Ile)	CRYBG1 (L2066I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077786	NM_001371242.2(CRYBG1):c.6214C>A (p.Gln2072Lys)	CRYBG1 (Q1664K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077788	NM_001371242.2(CRYBG1):c.6286G>A (p.Val2096Ile)	CRYBG1 (V1688I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077789	NM_001371242.2(CRYBG1):c.6290T>C (p.Leu2097Ser)	CRYBG1 (L1689S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 84