ClinVar for Gene (Select 1409) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248150	NC_000021.8:g.(?_44473990)_(45629566_?)del	AGPAT3, CBS +11 more	Deletion	Developmental and epileptic encephalopathy, 30 +1 more	GConflicting classifications of pathogenicity
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	TFF2, UBE2G2 +216 more	Copy number gain	not provided	GPathogenic
Select item 3077700	NM_000394.4(CRYAA):c.70G>A (p.Asp24Asn)	CRYAA (D24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3054626	NM_000394.4(CRYAA):c.315C>T (p.Asp105=)	CRYAA	Single nucleotide variant (synonymous variant)	CRYAA-related disorder	GLikely benign
Select item 3030260	NM_000394.4(CRYAA):c.285G>A (p.Glu95=)	CRYAA	Single nucleotide variant (synonymous variant)	CRYAA-related disorder	GLikely benign
Select item 2985948	NM_000394.4(CRYAA):c.190-24_190-10del	CRYAA	Deletion (intron variant)	Cataract 9 multiple types	GUncertain significance
Select item 2745366	NM_000394.4(CRYAA):c.225C>T (p.Leu75=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 2732820	NM_000394.4(CRYAA):c.303C>T (p.Asn101=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684918	GRCh37/hg19 21q22.3(chr21:43744362-44784657)x3	CBS, CRYAA +11 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2672891	NM_000394.4(CRYAA):c.245C>G (p.Pro82Arg)	CRYAA (P45R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606854	NM_000394.4(CRYAA):c.196T>G (p.Ser66Ala)	CRYAA (S29A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606566	NM_000394.4(CRYAA):c.409G>A (p.Gly137Ser)	CRYAA (G100S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574040	NM_000394.4(CRYAA):c.161G>C (p.Arg54Pro)	CRYAA (R54P)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
Select item 2571148	NM_000394.4(CRYAA):c.190-150G>A	CRYAA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2514624	NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)	CRYAA (F17S)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2363101	NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)	CRYAA (S172P +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GUncertain significance
Select item 2321550	NM_000394.4(CRYAA):c.380C>T (p.Ser127Leu)	CRYAA (S127L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210771	NM_000394.4(CRYAA):c.166G>A (p.Val56Met)	CRYAA (V56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210146	NM_000394.4(CRYAA):c.133A>G (p.Ser45Gly)	CRYAA (S45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2195346	NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)	CRYAA (S169L +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 2188237	NM_000394.4(CRYAA):c.213C>T (p.Phe71=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GBenign
Select item 2066629	NM_000394.4(CRYAA):c.159C>T (p.Phe53=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 2065060	NM_000394.4(CRYAA):c.291C>T (p.His97=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 1973261	NM_000394.4(CRYAA):c.249G>A (p.Glu83=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1703391	NM_000394.4(CRYAA):c.-62G>A	CRYAA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1686704	NM_000394.4(CRYAA):c.189+124C>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619488	NM_000394.4(CRYAA):c.189+15G>A	CRYAA	Single nucleotide variant (intron variant)	Cataract 9 multiple types	GLikely benign
Select item 1534897	NM_000394.4(CRYAA):c.189+14C>T	CRYAA	Single nucleotide variant (intron variant)	Cataract 9 multiple types	GLikely benign
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1482119	NM_000394.4(CRYAA):c.75G>C (p.Gln25His)	CRYAA (Q25H)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	GATD3, HSF2BP +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance
Select item 1372044	NM_000394.4(CRYAA):c.35G>A (p.Arg12His)	CRYAA (R12H)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 1366904	NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr)	CRYAA (A133T +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 1345527	NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup)	CRYAA	Duplication (inframe_insertion)	Cataract 9 multiple types	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1340794	GRCh37/hg19 21q22.3(chr21:44526182-44601620)x1	CRYAA, U2AF1	Copy number loss	not provided	GUncertain significance
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1294005	NM_000394.4(CRYAA):c.313-41G>A	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289812	NM_000394.4(CRYAA):c.313-283G>C	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265843	NM_000394.4(CRYAA):c.312+172G>A	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248791	NM_000394.4(CRYAA):c.189+171C>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229922	NM_000394.4(CRYAA):c.190-261C>T	CRYAA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1218313	NM_000394.4(CRYAA):c.313-285G>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207668	NM_000394.4(CRYAA):c.189+71G>C	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189748	NM_000394.4(CRYAA):c.189+33C>T	CRYAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1153146	NM_000394.4(CRYAA):c.198C>T (p.Ser66=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 1150066	NM_000394.4(CRYAA):c.111G>A (p.Leu37=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 1139955	NM_000394.4(CRYAA):c.486G>A (p.Ser162=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 898796	NM_000394.4(CRYAA):c.481G>A (p.Val161Met)	CRYAA (V124M +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 898795	NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys)	CRYAA (R82C +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 898794	NM_000394.4(CRYAA):c.349C>T (p.Arg117Cys)	CRYAA (R80C +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 898793	NM_000394.4(CRYAA):c.335G>A (p.Arg112His)	CRYAA (R75H +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GUncertain significance
Select item 897629	NM_000394.4(CRYAA):c.-30C>G	CRYAA	Single nucleotide variant (5 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 896109	NM_000394.4(CRYAA):c.*380G>A	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 895828	NM_000394.4(CRYAA):c.*156T>G	CRYAA	Single nucleotide variant (3 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 863970	NM_000394.4(CRYAA):c.199G>C (p.Asp67His)	CRYAA (D30H +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	AGPAT3, AIRE +47 more	Duplication	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816173	GRCh37/hg19 21q22.3(chr21:43822539-44974001)x3	HSF2BP, SLC37A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 809292	NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp)	CRYAA (R31W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 809291	NM_000394.4(CRYAA):c.146G>A (p.Arg49His)	CRYAA (R49H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753678	NM_000394.4(CRYAA):c.321C>T (p.His107=)	CRYAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 697528	NM_000394.4(CRYAA):c.81C>T (p.Phe27=)	CRYAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688323	GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1	AGPAT3, AIRE +47 more	Copy number loss	not provided	GPathogenic
Select item 688005	GRCh37/hg19 21q22.3(chr21:44577746-45120173)x3	CRYAA, HSF2BP +2 more	Copy number gain	not provided	GUncertain significance
Select item 686963	GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1	ADARB1, AGPAT3 +51 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 647965	NC_000021.8:g.(?_43892908)_(45629566_?)del	RSPH1, SIK1 +17 more	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LOC130066749, LOC130066750 +45 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 534953	NM_000394.4(CRYAA):c.324C>T (p.Gly108=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GBenign
Select item 521018	NM_000394.4(CRYAA):c.346C>A (p.Arg116Ser)	CRYAA (R116S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 466610	NM_000394.4(CRYAA):c.54C>T (p.Tyr18=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GBenign

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