ClinVar for Gene (Select 1420) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3061306	NM_020989.4(CRYGC):c.432C>A (p.Tyr144Ter)	CRYGC, LOC100507443 (Y144*)	Single nucleotide variant (nonsense)	CRYGC-related condition	GLikely pathogenic
Select item 3057677	NM_020989.4(CRYGC):c.*9A>C	CRYGC, LOC100507443	Single nucleotide variant (3 prime UTR variant)	CRYGC-related condition	GLikely benign
Select item 2856619	NM_020989.4(CRYGC):c.475dup (p.Ala159fs)	CRYGC, LOC100507443 (A159fs)	Duplication (frameshift variant)	Nuclear pulverulent cataract +1 more	GConflicting classifications of pathogenicity
Select item 2734362	NM_020989.4(CRYGC):c.61_63del (p.Thr21del)	CRYGC, LOC100507443 (T21del)	Deletion (inframe_deletion)	Nuclear pulverulent cataract	GUncertain significance
Select item 2729434	NM_020989.4(CRYGC):c.413A>G (p.Asn138Ser)	CRYGC, LOC100507443 (N138S)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	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 2578291	NM_020989.4(CRYGC):c.10-1G>A	CRYGC, LOC100507443	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2540719	NM_020989.4(CRYGC):c.44G>A (p.Arg15His)	CRYGC, LOC100507443 (R15H)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 2440575	NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser)	CRYGC, LOC100507443 (N50S)	Single nucleotide variant (missense variant)	Cataract 2, multiple types	GUncertain significance
Select item 2426035	NC_000002.11:g.(?_208986397)_(209220029_?)del	C2orf80, CRYGA +5 more	Deletion	not provided	GPathogenic
Select item 2373950	NM_020989.4(CRYGC):c.97T>C (p.Cys33Arg)	CRYGC, LOC100507443 (C33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359889	NM_020989.4(CRYGC):c.230G>A (p.Arg77His)	CRYGC, LOC100507443 (R77H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2353348	NM_020989.4(CRYGC):c.272G>A (p.Arg91Gln)	CRYGC, LOC100507443 (R91Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346842	NM_020989.4(CRYGC):c.164A>G (p.Gln55Arg)	CRYGC, LOC100507443 (Q55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2345146	NM_020989.4(CRYGC):c.344G>A (p.Arg115His)	CRYGC, LOC100507443 (R115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341421	NM_020989.4(CRYGC):c.458G>A (p.Arg153Gln)	CRYGC, LOC100507443 (R153Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329584	NM_020989.4(CRYGC):c.220G>A (p.Asp74Asn)	CRYGC, LOC100507443 (D74N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317039	NM_020989.4(CRYGC):c.491C>T (p.Ala164Val)	CRYGC, LOC100507443 (A164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278553	NM_020989.4(CRYGC):c.125G>A (p.Cys42Tyr)	CRYGC, LOC100507443 (C42Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213824	NM_020989.4(CRYGC):c.137A>G (p.Tyr46Cys)	CRYGC, LOC100507443 (Y46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080946	NM_020989.4(CRYGC):c.142C>T (p.Arg48Cys)	CRYGC, LOC100507443 (R48C)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 2041172	NM_020989.4(CRYGC):c.229C>T (p.Arg77Cys)	CRYGC, LOC100507443 (R77C)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 2031157	NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)	CRYGC, LOC100507443	Indel (nonsense)	Nuclear pulverulent cataract	GLikely pathogenic
Select item 1937357	NM_020989.4(CRYGC):c.450G>T (p.Glu150Asp)	CRYGC, LOC100507443 (E150D)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	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 1709652	NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys)	CRYGC, LOC100507443 (E135K)	Single nucleotide variant (missense variant)	Cataract 2, multiple types	GUncertain significance
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 1701407	NM_020989.4(CRYGC):c.469delinsAG (p.Trp157fs)	CRYGC, LOC100507443 (W157fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1652787	NM_020989.4(CRYGC):c.253-7C>T	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	Nuclear pulverulent cataract	GLikely benign
Select item 1637655	NM_020989.4(CRYGC):c.364C>T (p.Arg122Cys)	CRYGC, LOC100507443 (R122C)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GBenign
Select item 1599427	NM_020989.4(CRYGC):c.10-14T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	Nuclear pulverulent cataract	GBenign
Select item 1571346	NM_020989.4(CRYGC):c.258C>T (p.Val86=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	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	ADAM23, CPO +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1490644	NM_020989.4(CRYGC):c.135C>G (p.Leu45=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GLikely benign
Select item 1475373	NM_020989.4(CRYGC):c.418dup (p.Arg140fs)	CRYGC, LOC100507443 (R140fs)	Duplication (frameshift variant)	Nuclear pulverulent cataract	GLikely pathogenic
Select item 1428139	NM_020989.4(CRYGC):c.365G>A (p.Arg122His)	CRYGC, LOC100507443 (R122H)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 1366545	NM_020989.4(CRYGC):c.145C>A (p.Pro49Thr)	CRYGC, LOC100507443 (P49T)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 1341367	NM_020989.4(CRYGC):c.394del (p.Val132fs)	CRYGC, LOC100507443 (V132fs)	Deletion (frameshift variant)	Cataract 2, multiple types	GPathogenic
Select item 1321018	NM_020989.4(CRYGC):c.424del (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1291617	NC_000002.12:g.208129973C>T	CRYGC, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1283810	NC_000002.12:g.208128047G>A	CRYGC, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1281316	NC_000002.12:g.208130125T>C	CRYGC, LOC100507443	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1262083	NM_020989.4(CRYGC):c.252+120A>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245503	NM_020989.4(CRYGC):c.252+335T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219675	NM_020989.4(CRYGC):c.252+217A>G	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219438	NM_020989.4(CRYGC):c.252+135T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214795	NC_000002.12:g.208127913A>G	CRYGC, LOC100507443	Single nucleotide variant	not provided	GLikely benign
Select item 1214064	NM_020989.4(CRYGC):c.253-92A>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206925	NM_020989.4(CRYGC):c.252+191C>T	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200414	NM_020989.4(CRYGC):c.424C>G (p.Arg142Gly)	LOC100507443, CRYGC (R142G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1169057	NM_020989.4(CRYGC):c.33C>T (p.Ala11=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GBenign
Select item 1091044	NM_020989.4(CRYGC):c.55A>G (p.Thr19Ala)	CRYGC, LOC100507443 (T19A)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GLikely benign
Select item 1059584	NM_020989.4(CRYGC):c.304A>G (p.Met102Val)	CRYGC, LOC100507443 (M102V)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 1037881	NM_020989.4(CRYGC):c.121G>A (p.Gly41Ser)	CRYGC, LOC100507443 (G41S)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 1033968	NM_020989.4(CRYGC):c.423del (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Deletion (frameshift variant)	Cataract 2, multiple types	GPathogenic
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 948380	NM_020989.4(CRYGC):c.52G>A (p.Glu18Lys)	CRYGC, LOC100507443 (E18K)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 871306	NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter)	CRYGC, LOC100507443 (Y134*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 772583	NM_020989.4(CRYGC):c.120C>T (p.Ser40=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GBenign
Select item 705895	NM_020989.4(CRYGC):c.271C>T (p.Arg91Trp)	CRYGC, LOC100507443 (R91W)	Single nucleotide variant (missense variant)	CRYGC-related condition +1 more	GLikely benign
Select item 704390	NM_020989.4(CRYGC):c.84G>A (p.Pro28=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GBenign
Select item 701962	NM_020989.4(CRYGC):c.317G>A (p.Ser106Asn)	CRYGC, LOC100507443 (S106N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 653007	NM_020989.4(CRYGC):c.212G>T (p.Gly71Val)	CRYGC, LOC100507443 (G71V)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 620195	NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter)	CRYGC, LOC100507443 (Y144*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 534186	NM_020989.4(CRYGC):c.423dup (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Duplication (frameshift variant)	Nuclear pulverulent cataract	GPathogenic
Select item 534185	NM_020989.4(CRYGC):c.280G>A (p.Glu94Lys)	CRYGC, LOC100507443 (E94K)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 465774	NM_020989.4(CRYGC):c.357C>T (p.Ser119=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract +1 more	GBenign/Likely benign
Select item 465773	NM_020989.4(CRYGC):c.256G>T (p.Val86Phe)	CRYGC, LOC100507443 (V86F)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GLikely benign
Select item 465772	NM_020989.4(CRYGC):c.155A>C (p.Gln52Pro)	LOC100507443, CRYGC (Q52P)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 465771	NM_020989.4(CRYGC):c.123C>T (p.Gly41=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GBenign
Select item 465760	NM_020989.4(CRYGC):c.10-10T>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	CRYGC-related condition +1 more	GBenign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 429726	NM_020989.4(CRYGC):c.427C>T (p.Gln143Ter)	CRYGC, LOC100507443 (Q143*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 402565	NM_020989.4(CRYGC):c.143G>A (p.Arg48His)	LOC100507443, CRYGC (R48H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 217337	NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs)	CRYGC, LOC100507443 (P110fs)	Indel (frameshift variant)	Developmental cataract	GPathogenic
Select item 191147	NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter)	LOC100507443, CRYGC (E135*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +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	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	KANSL1L, KANSL1L-AS1 +96 more	Copy number loss	See cases	GPathogenic

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