LOC100507443[gene] - 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 260059	NM_006891.4(CRYGD):c.*12T>C	CRYGD, LOC100507443	Single nucleotide variant (3 prime UTR variant)	Cataract 4 multiple types +2 more	GBenign
Select item 333867	NM_006891.4(CRYGD):c.499C>T (p.Leu167=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +1 more	GBenign
Select item 333868	NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser)	CRYGD, LOC100507443 (N161S)	Single nucleotide variant (missense variant)	CRYGD-related disorder +2 more	GUncertain significance
Select item 723174	NM_006891.4(CRYGD):c.480G>A (p.Thr160=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 896706	NM_006891.4(CRYGD):c.479C>T (p.Thr160Met)	CRYGD, LOC100507443 (T160M)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GBenign
Select item 574299	NM_006891.4(CRYGD):c.475del (p.Ala159fs)	CRYGD, LOC100507443 (A159fs)	Deletion (frameshift variant)	Aculeiform cataract	GLikely pathogenic
Select item 1511929	NM_006891.4(CRYGD):c.471G>A (p.Trp157Ter)	CRYGD, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	Aculeiform cataract +1 more	GLikely pathogenic
Select item 16941	NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter)	CRYGD, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	Cataract 4 multiple types	GPathogenic
Select item 3077908	NM_006891.4(CRYGD):c.458G>A (p.Arg153His)	CRYGD, LOC100507443 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 624173	NM_006891.4(CRYGD):c.457C>T (p.Arg153Cys)	CRYGD, LOC100507443 (R153C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217353	NM_006891.4(CRYGD):c.448dup (p.Asp150fs)	CRYGD, LOC100507443 (D150fs)	Duplication (frameshift variant)	Developmental cataract	GPathogenic
Select item 3008284	NM_006891.4(CRYGD):c.419G>A (p.Arg140Gln)	LOC100507443, CRYGD (R140Q)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 574060	NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)	LOC100507443, CRYGD (R140*)	Single nucleotide variant (nonsense)	Aculeiform cataract +2 more	GPathogenic
Select item 536128	NM_006891.4(CRYGD):c.400_410del (p.Tyr134fs)	CRYGD, LOC100507443 (Y134fs)	Deletion (frameshift variant)	Aculeiform cataract	GUncertain significance
Select item 68462	NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter)	LOC100507443, CRYGD (Y134*)	Single nucleotide variant (nonsense)	Aculeiform cataract	GUncertain significance
Select item 2851051	NM_006891.4(CRYGD):c.401A>G (p.Tyr134Cys)	CRYGD, LOC100507443 (Y134C)	Single nucleotide variant (missense variant)	Aculeiform cataract	GLikely benign
Select item 1302993	NM_006891.4(CRYGD):c.386G>A (p.Gly129Asp)	CRYGD, LOC100507443 (G129D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333869	NM_006891.4(CRYGD):c.376G>A (p.Val126Met)	CRYGD, LOC100507443 (V126M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1364753	NM_006891.4(CRYGD):c.356A>G (p.Asn119Ser)	CRYGD, LOC100507443 (N119S)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 1047454	NM_006891.4(CRYGD):c.344G>A (p.Arg115His)	CRYGD, LOC100507443 (R115H)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 1621822	NM_006891.4(CRYGD):c.334C>G (p.Leu112Val)	CRYGD, LOC100507443 (L112V)	Single nucleotide variant (missense variant)	Aculeiform cataract	GLikely benign
Select item 896707	NM_006891.4(CRYGD):c.333T>C (p.Cys111=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types	GUncertain significance
Select item 333870	NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly)	CRYGD, LOC100507443 (R99G)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GUncertain significance
Select item 2574046	NM_006891.4(CRYGD):c.290A>T (p.Asp97Val)	CRYGD, LOC100507443 (D97V)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GUncertain significance
Select item 260061	NM_006891.4(CRYGD):c.285A>G (p.Arg95=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +3 more	GBenign
Select item 3040075	NM_006891.4(CRYGD):c.279T>C (p.Tyr93=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	CRYGD-related disorder	GLikely benign
Select item 333871	NM_006891.4(CRYGD):c.264C>G (p.His88Gln)	LOC100507443, CRYGD (H88Q)	Single nucleotide variant (missense variant)	Cataract 4 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 2300098	NM_006891.4(CRYGD):c.262C>T (p.His88Tyr)	CRYGD, LOC100507443 (H88Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036444	NM_006891.4(CRYGD):c.253-5G>A	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	CRYGD-related disorder	GLikely benign
Select item 1270286	NM_006891.4(CRYGD):c.253-169G>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270956	NM_006891.4(CRYGD):c.253-170T>C	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266956	NM_006891.4(CRYGD):c.253-266T>C	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276600	NM_006891.4(CRYGD):c.252+317G>A	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 333872	NM_006891.4(CRYGD):c.252+10T>A	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 333873	NM_006891.4(CRYGD):c.252+7A>G	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 897167	NM_006891.4(CRYGD):c.252C>T (p.His84=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types	GUncertain significance
Select item 657292	NM_006891.4(CRYGD):c.252C>G (p.His84Gln)	CRYGD, LOC100507443 (H84Q)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 1147525	NM_006891.4(CRYGD):c.240C>T (p.Arg80=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 897168	NM_006891.4(CRYGD):c.238C>T (p.Arg80Cys)	CRYGD, LOC100507443 (R80C)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GLikely benign
Select item 2633209	NM_006891.4(CRYGD):c.236G>A (p.Cys79Tyr)	CRYGD, LOC100507443 (C79Y)	Single nucleotide variant (missense variant)	CRYGD-related disorder	GUncertain significance
Select item 1329992	NM_006891.4(CRYGD):c.233C>T (p.Ser78Phe)	CRYGD, LOC100507443 (S78F)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GUncertain significance
Select item 2632968	NM_006891.4(CRYGD):c.223T>C (p.Ser75Pro)	CRYGD, LOC100507443 (S75P)	Single nucleotide variant (missense variant)	CRYGD-related disorder	GUncertain significance
Select item 2443411	NM_006891.4(CRYGD):c.193G>A (p.Asp65Asn)	LOC100507443, CRYGD (D65N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 897169	NM_006891.4(CRYGD):c.192C>G (p.Ala64=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types	GBenign
Select item 260060	NM_006891.4(CRYGD):c.189T>C (p.Tyr63=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 623428	NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys)	CRYGD, LOC100507443 (G61C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 16938	NM_006891.4(CRYGD):c.176G>A (p.Arg59His)	CRYGD, LOC100507443 (R59H)	Single nucleotide variant (missense variant)	Aculeiform cataract	GPathogenic
Select item 3068122	NM_006891.4(CRYGD):c.173T>G (p.Leu58Arg)	CRYGD, LOC100507443 (L58R)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GUncertain significance
Select item 333874	NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)	LOC100507443, CRYGD (Y56*)	Single nucleotide variant (nonsense)	Cataract 4 multiple types +3 more	GConflicting classifications of pathogenicity
Select item 2772706	NM_006891.4(CRYGD):c.161_163del (p.Leu54del)	CRYGD, LOC100507443 (L54del)	Deletion (inframe_deletion)	Aculeiform cataract	GLikely pathogenic
Select item 536129	NM_006891.4(CRYGD):c.155C>G (p.Ser52Trp)	CRYGD, LOC100507443 (S52W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1994732	NM_006891.4(CRYGD):c.154T>C (p.Ser52Pro)	CRYGD, LOC100507443 (S52P)	Single nucleotide variant (missense variant)	Aculeiform cataract	GLikely pathogenic
Select item 2362501	NM_006891.4(CRYGD):c.150C>A (p.Asn50Lys)	CRYGD, LOC100507443 (N50K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 191146	NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro)	CRYGD, LOC100507443 (L45P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 333875	NM_006891.4(CRYGD):c.130A>G (p.Met44Val)	LOC100507443, CRYGD (M44V)	Single nucleotide variant (missense variant)	Cataract 4 multiple types +2 more	GBenign
Select item 3077907	NM_006891.4(CRYGD):c.120C>A (p.Ser40Arg)	CRYGD, LOC100507443 (S40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 449631	NM_006891.4(CRYGD):c.118A>T (p.Ser40Cys)	CRYGD, LOC100507443 (S40C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580739	NM_006891.4(CRYGD):c.110G>C (p.Arg37Pro)	CRYGD, LOC100507443 (R37P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 16939	NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser)	CRYGD, LOC100507443 (R37S)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GPathogenic
Select item 1358725	NM_006891.4(CRYGD):c.97T>C (p.Cys33Arg)	CRYGD, LOC100507443 (C33R)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 1422350	NM_006891.4(CRYGD):c.86A>G (p.Tyr29Cys)	CRYGD, LOC100507443 (Y29C)	Single nucleotide variant (missense variant)	Aculeiform cataract	GUncertain significance
Select item 3269710	NM_006891.4(CRYGD):c.82C>T (p.Pro28Ser)	CRYGD, LOC100507443 (P28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 16942	NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser)	CRYGD, LOC100507443 (P24S)	Single nucleotide variant (missense variant)	Cataract 4 multiple types	GPathogenic
Select item 16940	NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)	CRYGD, LOC100507443 (P24T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 468229	NM_006891.4(CRYGD):c.63C>T (p.Ser21=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +2 more	GBenign/Likely benign
Select item 1300288	NM_006891.4(CRYGD):c.51T>G (p.Tyr17Ter)	CRYGD, LOC100507443 (Y17*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 260062	NM_006891.4(CRYGD):c.51T>C (p.Tyr17=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 842753	NM_006891.4(CRYGD):c.44G>A (p.Arg15His)	CRYGD, LOC100507443 (R15H)	Single nucleotide variant (missense variant)	Aculeiform cataract	GBenign
Select item 16937	NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys)	CRYGD, LOC100507443 (R15C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 468228	NM_006891.4(CRYGD):c.22_26delinsCCTTGCAGATCAC (p.Glu8fs)	CRYGD, LOC100507443 (E8fs)	Indel (frameshift variant)	Aculeiform cataract	GUncertain significance
Select item 3045051	NM_006891.4(CRYGD):c.19T>C (p.Tyr7His)	CRYGD, LOC100507443 (Y7H)	Single nucleotide variant (missense variant)	CRYGD-related disorder	GLikely benign
Select item 333876	NM_006891.4(CRYGD):c.10-7C>G	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Cataract 4 multiple types +1 more	GBenign
Select item 1261000	NM_006891.4(CRYGD):c.9+20C>G	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract +1 more	GBenign
Select item 260063	NM_006891.4(CRYGD):c.9+20C>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract +2 more	GBenign
Select item 2772746	NM_006891.4(CRYGD):c.9+17C>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Aculeiform cataract	GBenign
Select item 898331	NM_006891.4(CRYGD):c.9+15C>T	CRYGD, LOC100507443	Single nucleotide variant (intron variant)	Cataract 4 multiple types	GBenign
Select item 493310	NM_006891.4(CRYGD):c.9+2T>G	CRYGD, LOC100507443	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1242389	NM_006891.4(CRYGD):c.-44_-23del	CRYGD, LOC100507443	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 895355	NM_006891.4(CRYGD):c.-33A>G	CRYGD, LOC100507443	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 333877	NM_006891.4(CRYGD):c.-39C>T	CRYGD, LOC100507443	Single nucleotide variant (5 prime UTR variant)	Cataract 4 multiple types	GBenign
Select item 333878	NM_006891.4(CRYGD):c.-40C>T	LOC100507443, CRYGD	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 333879	NM_006891.3(CRYGD):c.-77T>C	LOC100507443, CRYGD	Single nucleotide variant	Cataract	GLikely benign
Select item 333880	NM_006891.3(CRYGD):c.-80A>C	CRYGD, LOC100507443	Single nucleotide variant	Cataract	GUncertain significance
Select item 1280606	NC_000002.12:g.208124828T>C	CRYGD, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1289102	NC_000002.12:g.208124857G>A	CRYGD, LOC100507443	Single nucleotide variant	not provided	GBenign
Select item 1197205	NC_000002.12:g.208124868A>G	CRYGD, LOC100507443	Single nucleotide 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 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

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