2482[HGNC] - 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 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 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 155502	GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1	AATBC, CSTB +31 more	Copy number loss	See cases	GLikely benign
Select item 59033	GRCh38/hg38 21q22.3(chr21:43651490-43783031)x3	CSTB, HSF2BP +14 more	Copy number gain	See cases	GUncertain significance
Select item 59034	GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3	AATBC, AGPAT3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 340114	NM_000100.3(CSTB):c.*435G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340115	NM_000100.3(CSTB):c.*355C>G	CSTB	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896110	NM_000100.3(CSTB):c.*334G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340116	NM_000100.3(CSTB):c.*325A>G	CSTB	Single nucleotide variant	not provided +1 more	GBenign
Select item 897699	NM_000100.3(CSTB):c.*319G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340117	NM_000100.3(CSTB):c.*301G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 1199992	NC_000021.9:g.43773905del	CSTB	Deletion	not provided	GLikely benign
Select item 897700	NM_000100.3(CSTB):c.*287G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 1209247	NC_000021.9:g.43773924_43773925del	CSTB	Deletion	not provided	GLikely benign
Select item 340118	NM_000100.4(CSTB):c.*227A>G	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome	GUncertain significance
Select item 897701	NM_000100.4(CSTB):c.*209A>T	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome	GUncertain significance
Select item 897702	NM_000100.4(CSTB):c.*93A>G	CSTB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 340119	NM_000100.4(CSTB):c.*74T>C	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome +1 more	GBenign
Select item 340120	NM_000100.4(CSTB):c.*69A>G	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome +1 more	GLikely benign
Select item 584212	NC_000021.8:g.(?_45194063)_(45196170_?)dup	CSTB, LOC130066788	Duplication	Progressive myoclonic epilepsy	GUncertain significance
Select item 1208604	NM_000100.4(CSTB):c.*19C>T	CSTB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 377757	NM_000100.4(CSTB):c.*7C>G	CSTB	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign/Likely benign
Select item 1507113	NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)	CSTB	Single nucleotide variant (stop lost)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1087188	NM_000100.4(CSTB):c.294C>T (p.Phe98=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 566823	NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)	CSTB (Y97C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 205329	NM_000100.4(CSTB):c.274C>T (p.His92Tyr)	CSTB (H92Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1095761	NM_000100.4(CSTB):c.273G>A (p.Lys91=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 840825	NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)	CSTB (A90G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 546536	NM_000100.4(CSTB):c.268G>A (p.Ala90Thr)	CSTB (A90T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1546752	NM_000100.4(CSTB):c.264C>T (p.Asn88=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 502097	NM_000100.4(CSTB):c.251_254del (p.Asn84fs)	CSTB (N84fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1791620	NM_000100.4(CSTB):c.246_247del (p.Leu82fs)	CSTB (L82fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1153455	NM_000100.4(CSTB):c.246A>G (p.Leu82=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1134631	NM_000100.4(CSTB):c.243C>T (p.Thr81=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1401706	NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)	CSTB (P79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1005500	NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)	CSTB (K78Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1306155	NM_000100.4(CSTB):c.224A>G (p.His75Arg)	CSTB (H75R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 666012	NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)	CSTB (P74L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 3061122	NM_000100.4(CSTB):c.219C>T (p.Leu73=)	CSTB	Single nucleotide variant (synonymous variant)	CSTB-related disorder	GLikely benign
Select item 55960	NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	CSTB (L73fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 205328	NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)	CSTB (S72P)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 767341	NM_000100.4(CSTB):c.213A>G (p.Gln71=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 8400	NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)	CSTB (Q71P)	Single nucleotide variant (missense variant)	Unverricht-Lundborg syndrome	GPathogenic
Select item 2173065	NM_000100.4(CSTB):c.207G>T (p.Val69=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 659184	NM_000100.4(CSTB):c.200_203dup (p.Val69fs)	CSTB (V69fs)	Duplication (frameshift variant)	Progressive myoclonic epilepsy	GPathogenic
Select item 531794	NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)	CSTB (R68P)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 8396	NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	CSTB (R68*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 1110455	NM_000100.4(CSTB):c.201G>A (p.Leu67=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1479565	NM_000100.4(CSTB):c.196C>T (p.His66Tyr)	CSTB (H66Y)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 855755	NM_000100.4(CSTB):c.193G>C (p.Val65Leu)	CSTB (V65L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 205323	NM_000100.4(CSTB):c.193G>A (p.Val65Ile)	CSTB (V65I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1090993	NM_000100.4(CSTB):c.192C>T (p.Phe64=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 570980	NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)	CSTB (F64C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2128037	NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)	CSTB (D63E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1443033	NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)	CSTB (E62K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 386806	NM_000100.4(CSTB):c.183C>T (p.Asp61=)	CSTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 382348	NM_000100.4(CSTB):c.180C>T (p.Gly60=)	CSTB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1308695	NM_000100.4(CSTB):c.178G>A (p.Gly60Ser)	CSTB (G60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155699	NM_000100.4(CSTB):c.177C>T (p.Val59=)	CSTB	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 581672	NM_000100.4(CSTB):c.175G>A (p.Val59Ile)	CSTB (V59I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance

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