ClinVar for Gene (Select 1419) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352519	NM_005210.4(CRYGB):c.181G>A (p.Gly61Arg)	CRYGB, LOC100507443 (G61R)	Single nucleotide variant (missense variant)	CRYGB-related disorder	GUncertain significance
Select item 3269709	NM_005210.4(CRYGB):c.259G>A (p.Gly87Ser)	CRYGB, LOC100507443 (G87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269708	NM_005210.4(CRYGB):c.486T>A (p.Asn162Lys)	CRYGB, LOC100507443 (N162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077898	NM_005210.4(CRYGB):c.454T>A (p.Tyr152Asn)	CRYGB, LOC100507443 (Y152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062601	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 3045627	NM_005210.4(CRYGB):c.324C>T (p.Asp108=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	CRYGB-related disorder	GLikely benign
Select item 3037680	NM_005210.4(CRYGB):c.*10G>A	CRYGB, LOC100507443	Single nucleotide variant (3 prime UTR variant)	CRYGB-related disorder	GLikely benign
Select item 2995995	NM_005210.4(CRYGB):c.179G>A (p.Arg60His)	CRYGB, LOC100507443 (R60H)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GLikely benign
Select item 2914911	NM_005210.4(CRYGB):c.83C>G (p.Pro28Arg)	CRYGB, LOC100507443 (P28R)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 2906200	NM_005210.4(CRYGB):c.302G>T (p.Gly101Val)	CRYGB, LOC100507443 (G101V)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 2730356	NM_005210.4(CRYGB):c.220G>A (p.Asp74Asn)	CRYGB, LOC100507443 (D74N)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 2726889	NM_005210.4(CRYGB):c.21C>T (p.Tyr7=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 39 multiple types	GLikely benign
Select item 2651849	NM_005210.4(CRYGB):c.144C>T (p.Arg48=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592341	NM_005210.4(CRYGB):c.47G>A (p.Ser16Asn)	CRYGB, LOC100507443 (S16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2489960	NM_005210.4(CRYGB):c.148A>G (p.Asn50Asp)	CRYGB, LOC100507443 (N50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478634	NM_005210.4(CRYGB):c.290A>G (p.Asp97Gly)	CRYGB, LOC100507443 (D97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426035	NC_000002.11:g.(?_208986397)_(209220029_?)del	C2orf80, CRYGA +5 more	Deletion	not provided	GPathogenic
Select item 2412501	NM_005210.4(CRYGB):c.373C>G (p.Leu125Val)	CRYGB, LOC100507443 (L125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321430	NM_005210.4(CRYGB):c.221A>T (p.Asp74Val)	CRYGB, LOC100507443 (D74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281149	NM_005210.4(CRYGB):c.509G>A (p.Arg170Gln)	CRYGB, LOC100507443 (R170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1589746	NM_005210.4(CRYGB):c.9+11_9+13delinsAAA	CRYGB, LOC100507443	Indel (intron variant)	Cataract 39 multiple types	GLikely benign
Select item 1526945	GRCh37/hg19 2q33.3-34(chr2:208801409-209164383)	C2orf80, CRYGA +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1507890	NM_005210.4(CRYGB):c.428G>A (p.Arg143Lys)	CRYGB, LOC100507443 (R143K)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 1413387	NM_005210.4(CRYGB):c.251C>T (p.Pro84Leu)	CRYGB, LOC100507443 (P84L)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 1370446	NM_005210.4(CRYGB):c.478G>C (p.Ala160Pro)	LOC100507443, CRYGB (A160P)	Single nucleotide variant (missense variant)	Cataract 39 multiple types +1 more	GUncertain significance
Select item 1317988	NM_005210.4(CRYGB):c.252+84_252+85del	CRYGB, LOC100507443	Deletion (intron variant)	not provided	GLikely benign
Select item 1286851	NM_005210.4(CRYGB):c.-28C>A	CRYGB, LOC100507443	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1283350	NC_000002.12:g.208146290G>T	CRYGB, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1282277	NM_005210.4(CRYGB):c.253-156T>C	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263173	NM_005210.4(CRYGB):c.252+63dup	CRYGB, LOC100507443	Duplication (intron variant)	not provided	GBenign
Select item 1257871	NM_005210.4(CRYGB):c.252+85del	CRYGB, LOC100507443	Deletion (intron variant)	not provided	GBenign
Select item 1249995	NM_005210.4(CRYGB):c.9+11G>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245788	NM_005210.4(CRYGB):c.9+13T>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237178	NM_005210.4(CRYGB):c.252+229A>G	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229744	NM_005210.4(CRYGB):c.9+12G>A	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228871	NC_000002.12:g.208146403T>C	CRYGB, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1224569	NM_005210.4(CRYGB):c.252+268A>G	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183509	NM_005210.4(CRYGB):c.253-149T>C	CRYGB, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170763	NC_000002.12:g.208146167G>A	CRYGB, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814360	GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 800166	NM_005210.4(CRYGB):c.137A>G (p.Tyr46Cys)	CRYGB, LOC100507443 (Y46C)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GLikely benign
Select item 723781	NM_005210.4(CRYGB):c.513C>T (p.Val171=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 39 multiple types	GBenign
Select item 686958	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 686367	GRCh37/hg19 2q33.3-34(chr2:208956981-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not provided	GUncertain significance
Select item 677166	NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu)	LOC100507443, CRYGB (I111L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 677165	NM_005210.4(CRYGB):c.192T>C (p.Pro64=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 572782	NM_005210.4(CRYGB):c.44G>A (p.Arg15His)	CRYGB, LOC100507443 (R15H)	Single nucleotide variant (missense variant)	Cataract 39 multiple types	GUncertain significance
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 474172	NM_005210.4(CRYGB):c.312A>G (p.Ser104=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 39 multiple types	GBenign
Select item 474171	NM_005210.4(CRYGB):c.244A>G (p.Ile82Val)	CRYGB, LOC100507443 (I82V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 474170	NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp)	CRYGB, LOC100507443 (R59W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 147983	GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1	C2orf80, CRYGA +17 more	Copy number loss	See cases	GUncertain significance
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 41988	NM_005210.4(CRYGB):c.10-38del	LOC100507443, CRYGB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 41987	NM_005210.4(CRYGB):c.72del (p.Asn25fs)	CRYGB, LOC100507443 (N25fs)	Deletion (frameshift variant)	Cataract 39 multiple types	GPathogenic

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Links from Gene

Items: 79