3736[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 221486	GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1	LOC124625890, LOC126861422 +36 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 58207	GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3	ANO2, KCNA1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 883916	NM_000217.3(KCNA1):c.-1043C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 309123	NM_000217.3(KCNA1):c.-1040G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Myokymia +1 more	GUncertain significance
Select item 309124	NM_000217.3(KCNA1):c.-1034C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309125	NM_000217.3(KCNA1):c.-968C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309126	NM_000217.3(KCNA1):c.-959C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign
Select item 883917	NM_000217.3(KCNA1):c.-909A>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309127	NM_000217.3(KCNA1):c.-865AG[2]	KCNA1	Microsatellite (5 prime UTR variant)	Myokymia +1 more	GLikely benign
Select item 880635	NM_000217.3(KCNA1):c.-849T>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309128	NM_000217.3(KCNA1):c.-839C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GBenign
Select item 309129	NM_000217.3(KCNA1):c.-731C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign
Select item 309130	NM_000217.3(KCNA1):c.-684G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 880636	NM_000217.3(KCNA1):c.-638C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 309131	NM_000217.3(KCNA1):c.-636G>C	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 880637	NM_000217.3(KCNA1):c.-628C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 880638	NM_000217.3(KCNA1):c.-530A>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309132	NM_000217.3(KCNA1):c.-487A>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309133	NM_000217.3(KCNA1):c.-478dup	KCNA1	Duplication (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GLikely benign
Select item 309134	NM_000217.3(KCNA1):c.-482G>C	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 882049	NM_000217.3(KCNA1):c.-433C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309135	NM_000217.3(KCNA1):c.-428C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GBenign/Likely benign
Select item 882050	NM_000217.3(KCNA1):c.-420C>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309136	NM_000217.3(KCNA1):c.-300ACA[3]	KCNA1	Microsatellite (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GUncertain significance
Select item 309137	NM_000217.3(KCNA1):c.-235C>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Myokymia +2 more	GBenign/Likely benign
Select item 309138	NM_000217.3(KCNA1):c.-230C>G	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 882051	NM_000217.3(KCNA1):c.-196C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309139	NM_000217.3(KCNA1):c.-157T>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 883199	NM_000217.3(KCNA1):c.-143C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309140	NM_000217.3(KCNA1):c.-134G>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign/Likely benign
Select item 309141	NM_000217.3(KCNA1):c.-110G>A	KCNA1	Single nucleotide variant (5 prime UTR variant)	Hereditary episodic ataxia +2 more	GBenign
Select item 883200	NM_000217.3(KCNA1):c.-99C>T	KCNA1	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1	GUncertain significance
Select item 309142	NM_000217.3(KCNA1):c.-27C>T	KCNA1, LOC130007218	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 946822	NM_000217.3(KCNA1):c.1A>T (p.Met1Leu)	KCNA1, LOC130007218 (M1L)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 883201	NM_000217.3(KCNA1):c.1A>G (p.Met1Val)	KCNA1, LOC130007218 (M1V)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GBenign
Select item 1482834	NM_000217.3(KCNA1):c.2T>C (p.Met1Thr)	KCNA1, LOC130007218 (M1T)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 967035	NM_000217.3(KCNA1):c.2T>G (p.Met1Arg)	KCNA1, LOC130007218 (M1R)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 1	GUncertain significance
Select item 2783112	NM_000217.3(KCNA1):c.5C>A (p.Thr2Lys)	KCNA1, LOC130007218 (T2K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1434900	NM_000217.3(KCNA1):c.6G>A (p.Thr2=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 706304	NM_000217.3(KCNA1):c.6G>T (p.Thr2=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 586087	NM_000217.3(KCNA1):c.12G>T (p.Met4Ile)	KCNA1, LOC130007218 (M4I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474077	NM_000217.3(KCNA1):c.14C>T (p.Ser5Phe)	KCNA1, LOC130007218 (S5F)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1474794	NM_000217.3(KCNA1):c.16G>A (p.Gly6Arg)	KCNA1, LOC130007218 (G6R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2895659	NM_000217.3(KCNA1):c.17G>C (p.Gly6Ala)	KCNA1, LOC130007218 (G6A)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1159155	NM_000217.3(KCNA1):c.18G>C (p.Gly6=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 883202	NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys)	KCNA1, LOC130007218 (E7K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1360899	NM_000217.3(KCNA1):c.24C>G (p.Asn8Lys)	LOC130007218, KCNA1 (N8K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1116884	NM_000217.3(KCNA1):c.24C>T (p.Asn8=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2540056	NM_000217.3(KCNA1):c.25G>A (p.Val9Met)	KCNA1, LOC130007218 (V9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498542	NM_000217.3(KCNA1):c.30C>A (p.Asp10Glu)	KCNA1, LOC130007218 (D10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 642028	NM_000217.3(KCNA1):c.30C>G (p.Asp10Glu)	KCNA1, LOC130007218 (D10E)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2131800	NM_000217.3(KCNA1):c.31G>T (p.Glu11Ter)	KCNA1, LOC130007218 (E11*)	Single nucleotide variant (nonsense)	Episodic ataxia type 1	GUncertain significance
Select item 3020459	NM_000217.3(KCNA1):c.34G>C (p.Ala12Pro)	KCNA1, LOC130007218 (A12P)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1404392	NM_000217.3(KCNA1):c.35C>T (p.Ala12Val)	KCNA1, LOC130007218 (A12V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1348561	NM_000217.3(KCNA1):c.38C>A (p.Ser13Ter)	KCNA1, LOC130007218 (S13*)	Single nucleotide variant (nonsense)	Episodic ataxia type 1	GUncertain significance
Select item 1316112	NM_000217.3(KCNA1):c.38C>T (p.Ser13Leu)	KCNA1, LOC130007218 (S13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854855	NM_000217.3(KCNA1):c.40G>T (p.Ala14Ser)	KCNA1, LOC130007218 (A14S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 702194	NM_000217.3(KCNA1):c.42C>T (p.Ala14=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1721131	NM_000217.3(KCNA1):c.43G>A (p.Ala15Thr)	KCNA1, LOC130007218 (A15T)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1317250	NM_000217.3(KCNA1):c.47dup (p.His18fs)	KCNA1, LOC130007218 (H18fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 961458	NM_000217.3(KCNA1):c.43G>T (p.Ala15Ser)	KCNA1, LOC130007218 (A15S)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 1990086	NM_000217.3(KCNA1):c.44C>T (p.Ala15Val)	KCNA1, LOC130007218 (A15V)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 1969965	NM_000217.3(KCNA1):c.48G>A (p.Pro16=)	KCNA1, LOC130007218	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 955397	NM_000217.3(KCNA1):c.49G>C (p.Gly17Arg)	KCNA1 (G17R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 374425	NM_000217.3(KCNA1):c.53A>C (p.His18Pro)	KCNA1 (H18P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2982893	NM_000217.3(KCNA1):c.58C>A (p.Gln20Lys)	KCNA1 (Q20K)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2138871	NM_000217.3(KCNA1):c.59A>G (p.Gln20Arg)	KCNA1 (Q20R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2160846	NM_000217.3(KCNA1):c.60G>A (p.Gln20=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 447612	NM_000217.3(KCNA1):c.60G>C (p.Gln20His)	KCNA1 (Q20H)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2769272	NM_000217.3(KCNA1):c.61G>T (p.Asp21Tyr)	KCNA1 (D21Y)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 804963	NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn)	KCNA1 (D21N)	Single nucleotide variant (missense variant)	Episodic ataxia type 1 +1 more	GUncertain significance
Select item 950047	NM_000217.3(KCNA1):c.70T>C (p.Tyr24His)	KCNA1 (Y24H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2171522	NM_000217.3(KCNA1):c.74C>T (p.Pro25Leu)	KCNA1 (P25L)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 435546	NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp)	KCNA1 (R26W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2534190	NM_000217.3(KCNA1):c.80A>C (p.Gln27Pro)	KCNA1 (Q27P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2919952	NM_000217.3(KCNA1):c.84C>G (p.Ala28=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 1916131	NM_000217.3(KCNA1):c.84C>T (p.Ala28=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 463865	NM_000217.3(KCNA1):c.84C>A (p.Ala28=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2725488	NM_000217.3(KCNA1):c.87C>T (p.Asp29=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2534191	NM_000217.3(KCNA1):c.87C>G (p.Asp29Glu)	KCNA1 (D29E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1318467	NM_000217.3(KCNA1):c.94G>C (p.Asp32His)	KCNA1 (D32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316825	NM_000217.3(KCNA1):c.94G>T (p.Asp32Tyr)	KCNA1 (D32Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1384431	NM_000217.3(KCNA1):c.101_102insCGTCCACGA (p.His33_Glu34insAspValHis)	KCNA1	Insertion (inframe_insertion)	Episodic ataxia type 1	GUncertain significance
Select item 1384109	NM_000217.3(KCNA1):c.97C>T (p.His33Tyr)	KCNA1 (H33Y)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance
Select item 2694845	NM_000217.3(KCNA1):c.99C>T (p.His33=)	KCNA1	Single nucleotide variant (synonymous variant)	Episodic ataxia type 1	GLikely benign
Select item 2756445	NM_000217.3(KCNA1):c.103T>C (p.Cys35Arg)	KCNA1 (C35R)	Single nucleotide variant (missense variant)	Episodic ataxia type 1	GUncertain significance

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