1420[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	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 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 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 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 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 1214795	NC_000002.12:g.208127913A>G	CRYGC, LOC100507443	Single nucleotide variant	not provided	GLikely benign
Select item 1283810	NC_000002.12:g.208128047G>A	CRYGC, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 3057677	NM_020989.4(CRYGC):c.*9A>C	CRYGC, LOC100507443	Single nucleotide variant (3 prime UTR variant)	CRYGC-related disorder	GLikely benign
Select item 3351293	NM_020989.4(CRYGC):c.503G>A (p.Arg168Gln)	CRYGC, LOC100507443 (R168Q)	Single nucleotide variant (missense variant)	CRYGC-related disorder	GUncertain significance
Select item 16945	NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)	CRYGC, LOC100507443 (R168W)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GConflicting classifications of pathogenicity
Select item 68475	NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe)	CRYGC, LOC100507443 (S166F)	Single nucleotide variant (missense variant)	Developmental cataract +1 more	GPathogenic
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 3077906	NM_020989.4(CRYGC):c.479T>C (p.Met160Thr)	CRYGC, LOC100507443 (M160T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2856619	NM_020989.4(CRYGC):c.475dup (p.Ala159fs)	CRYGC, LOC100507443 (A159fs)	Duplication (frameshift variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 66075	NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter)	CRYGC, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	Cataract 2, multiple types	GPathogenic
Select item 66074	NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)	CRYGC, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1701407	NM_020989.4(CRYGC):c.469delinsAG (p.Trp157fs)	CRYGC, LOC100507443 (W157fs)	Indel (frameshift variant)	not provided	GPathogenic
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 1937357	NM_020989.4(CRYGC):c.450G>T (p.Glu150Asp)	CRYGC, LOC100507443 (E150D)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 3061306	NM_020989.4(CRYGC):c.432C>A (p.Tyr144Ter)	CRYGC, LOC100507443 (Y144*)	Single nucleotide variant (nonsense)	CRYGC-related disorder	GLikely pathogenic
Select item 620195	NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter)	CRYGC, LOC100507443 (Y144*)	Single nucleotide variant (nonsense)	not provided	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 1321018	NM_020989.4(CRYGC):c.424del (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 534186	NM_020989.4(CRYGC):c.423dup (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Duplication (frameshift variant)	Nuclear pulverulent cataract	GPathogenic
Select item 1033968	NM_020989.4(CRYGC):c.423del (p.Arg142fs)	CRYGC, LOC100507443 (R142fs)	Deletion (frameshift variant)	Cataract 2, multiple types	GPathogenic
Select item 1475373	NM_020989.4(CRYGC):c.418dup (p.Arg140fs)	LOC100507443, CRYGC (R140fs)	Duplication (frameshift variant)	Nuclear pulverulent cataract	GLikely pathogenic
Select item 3347843	NM_020989.4(CRYGC):c.417C>G (p.Tyr139Ter)	CRYGC, LOC100507443 (Y139*)	Single nucleotide variant (nonsense)	CRYGC-related disorder	GPathogenic
Select item 2031157	NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)	CRYGC, LOC100507443	Indel (nonsense)	Nuclear pulverulent cataract	GLikely pathogenic
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 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 191147	NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter)	LOC100507443, CRYGC (E135*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3342206	NM_020989.4(CRYGC):c.402C>A (p.Tyr134Ter)	CRYGC, LOC100507443 (Y134*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 871306	NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter)	LOC100507443, CRYGC (Y134*)	Single nucleotide variant (nonsense)	Nuclear pulverulent cataract +1 more	GConflicting classifications of pathogenicity
Select item 1341367	NM_020989.4(CRYGC):c.394del (p.Val132fs)	CRYGC, LOC100507443 (V132fs)	Deletion (frameshift variant)	Cataract 2, multiple types	GPathogenic
Select item 3242235	NM_020989.4(CRYGC):c.386_389dup (p.Cys130fs)	CRYGC, LOC100507443 (C130fs)	Duplication (frameshift variant)	Cataract 2, multiple types	GPathogenic
Select item 66076	NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys)	CRYGC, LOC100507443 (G129C)	Single nucleotide variant (missense variant)	Cataract 2, multiple types	GPathogenic
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 1637655	NM_020989.4(CRYGC):c.364C>T (p.Arg122Cys)	CRYGC, LOC100507443 (R122C)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GBenign
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 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 217337	NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs)	CRYGC, LOC100507443 (P110fs)	Indel (frameshift variant)	Developmental cataract	GPathogenic
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 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 3077904	NM_020989.4(CRYGC):c.299G>T (p.Gly100Val)	CRYGC, LOC100507443 (G100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 705895	NM_020989.4(CRYGC):c.271C>T (p.Arg91Trp)	CRYGC, LOC100507443 (R91W)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GLikely benign
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 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 1652787	NM_020989.4(CRYGC):c.253-7C>T	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	Nuclear pulverulent cataract	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 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 1206925	NM_020989.4(CRYGC):c.252+191C>T	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 1262083	NM_020989.4(CRYGC):c.252+120A>C	CRYGC, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3077903	NM_020989.4(CRYGC):c.248C>T (p.Pro83Leu)	CRYGC, LOC100507443 (P83L)	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)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 2041172	NM_020989.4(CRYGC):c.229C>T (p.Arg77Cys)	CRYGC, LOC100507443 (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 653007	NM_020989.4(CRYGC):c.212G>T (p.Gly71Val)	LOC100507443, CRYGC (G71V)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 3077902	NM_020989.4(CRYGC):c.176G>A (p.Arg59Gln)	CRYGC, LOC100507443 (R59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3077901	NM_020989.4(CRYGC):c.169T>G (p.Leu57Val)	CRYGC, LOC100507443 (L57V)	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 3345579	NM_020989.4(CRYGC):c.156del (p.Gly53fs)	CRYGC, LOC100507443 (G53fs)	Deletion (frameshift variant)	CRYGC-related disorder	GLikely pathogenic
Select item 465772	NM_020989.4(CRYGC):c.155A>C (p.Gln52Pro)	CRYGC, LOC100507443 (Q52P)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GUncertain significance
Select item 3077900	NM_020989.4(CRYGC):c.152A>G (p.Tyr51Cys)	CRYGC, LOC100507443 (Y51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1366545	NM_020989.4(CRYGC):c.145C>A (p.Pro49Thr)	CRYGC, LOC100507443 (P49T)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract +1 more	GUncertain significance
Select item 402565	NM_020989.4(CRYGC):c.143G>A (p.Arg48His)	CRYGC, LOC100507443 (R48H)	Single nucleotide variant (missense variant)	Usher syndrome type 2C +3 more	GBenign
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 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 1490644	NM_020989.4(CRYGC):c.135C>G (p.Leu45=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GLikely benign
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 3077899	NM_020989.4(CRYGC):c.124T>C (p.Cys42Arg)	CRYGC, LOC100507443 (C42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 16944	NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs)	CRYGC, LOC100507443 (C42fs)	Duplication (frameshift variant)	Cataract 2, multiple types	GPathogenic
Select item 465771	NM_020989.4(CRYGC):c.123C>T (p.Gly41=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract +1 more	GBenign
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 772583	NM_020989.4(CRYGC):c.120C>T (p.Ser40=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GBenign
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 704390	NM_020989.4(CRYGC):c.84G>A (p.Pro28=)	LOC100507443, CRYGC	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GBenign
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 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 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 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 1169057	NM_020989.4(CRYGC):c.33C>T (p.Ala11=)	CRYGC, LOC100507443	Single nucleotide variant (synonymous variant)	Nuclear pulverulent cataract	GBenign
Select item 16943	NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro)	CRYGC, LOC100507443 (T5P)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	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 465760	NM_020989.4(CRYGC):c.10-10T>C	CRYGC, LOC100507443	Single nucleotide variant (intron 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 3257038	NM_020989.4(CRYGC):c.7_9+1dup	CRYGC, LOC100507443	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1291617	NC_000002.12:g.208129973C>T	CRYGC, LOC100507443	Single nucleotide variant (genic upstream transcript 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

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