1409[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LOC130066769, LOC130066770 +45 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	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 897629	NM_000394.4(CRYAA):c.-30C>G	CRYAA	Single nucleotide variant (5 prime UTR variant)	Cataract 9 multiple types	GUncertain significance
Select item 256010	NM_000394.4(CRYAA):c.6C>T (p.Asp2=)	CRYAA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 16958	NM_000394.4(CRYAA):c.27G>A (p.Trp9Ter)	CRYAA (W9*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 68459	NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	CRYAA (R12C)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GPathogenic/Likely pathogenic
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 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 466610	NM_000394.4(CRYAA):c.54C>T (p.Tyr18=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GBenign
Select item 68460	NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)	CRYAA (R21W)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 68461	NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)	CRYAA (R21Q)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	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 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 697528	NM_000394.4(CRYAA):c.81C>T (p.Phe27=)	CRYAA	Single nucleotide variant (synonymous variant)	not provided	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 2210146	NM_000394.4(CRYAA):c.133A>G (p.Ser45Gly)	CRYAA (S45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 217332	NM_000394.4(CRYAA):c.142T>G (p.Tyr48Asp)	CRYAA (Y48D)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 16959	NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys)	CRYAA (R49C)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
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 340096	NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)	CRYAA (L52F)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +1 more	GConflicting classifications of pathogenicity
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 68457	NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys)	CRYAA (R54C)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
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 2210771	NM_000394.4(CRYAA):c.166G>A (p.Val56Met)	CRYAA (V56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1619488	NM_000394.4(CRYAA):c.189+15G>A	CRYAA	Single nucleotide variant (intron variant)	Cataract 9 multiple types	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 1207668	NM_000394.4(CRYAA):c.189+71G>C	CRYAA	Single nucleotide variant (intron 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 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 2571148	NM_000394.4(CRYAA):c.190-150G>A	CRYAA	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 1153146	NM_000394.4(CRYAA):c.198C>T (p.Ser66=)	CRYAA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 809292	NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp)	CRYAA (R31W +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types +2 more	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 2745366	NM_000394.4(CRYAA):c.225C>T (p.Leu75=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
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 340097	NM_000394.4(CRYAA):c.245C>T (p.Pro82Leu)	CRYAA (P82L +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
Select item 340098	NM_000394.4(CRYAA):c.246G>A (p.Pro82=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types +1 more	GBenign
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 340099	NM_000394.4(CRYAA):c.269A>C (p.Gln90Pro)	CRYAA (Q90P +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GUncertain significance
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 2065060	NM_000394.4(CRYAA):c.291C>T (p.His97=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types	GLikely benign
Select item 68456	NM_000394.4(CRYAA):c.292G>A (p.Gly98Arg)	CRYAA (G98R +1 more)	Single nucleotide variant (missense variant)	Cataract 9 multiple types	GPathogenic
Select item 2732820	NM_000394.4(CRYAA):c.303C>T (p.Asn101=)	CRYAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1265843	NM_000394.4(CRYAA):c.312+172G>A	CRYAA	Single nucleotide variant (intron variant)	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 1289812	NM_000394.4(CRYAA):c.313-283G>C	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294005	NM_000394.4(CRYAA):c.313-41G>A	CRYAA	Single nucleotide variant (intron variant)	not provided	GBenign
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 1345527	NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup)	CRYAA	Duplication (inframe_insertion)	Cataract 9 multiple types	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 534953	NM_000394.4(CRYAA):c.324C>T (p.Gly108=)	CRYAA	Single nucleotide variant (synonymous variant)	Cataract 9 multiple types +1 more	GBenign
Select item 256008	NM_000394.4(CRYAA):c.327C>T (p.Tyr109=)	CRYAA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 521018	NM_000394.4(CRYAA):c.346C>A (p.Arg116Ser)	CRYAA (R116S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic

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