6224[HGNC] - 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 1192087	NC_000012.12:g.5043601G>A	KCNA5	Single nucleotide variant	not provided	GLikely benign
Select item 1222560	NC_000012.12:g.5043712G>T	KCNA5	Single nucleotide variant	not provided	GBenign
Select item 1277403	NC_000012.12:g.5043783C>T	KCNA5	Single nucleotide variant	not provided	GBenign
Select item 1227952	NC_000012.12:g.5043793G>A	KCNA5	Single nucleotide variant	not provided	GBenign
Select item 1179371	NM_002234.4(KCNA5):c.-262GGC[1]	KCNA5	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1194327	NM_002234.4(KCNA5):c.-259_-258insAA	KCNA5	Insertion (5 prime UTR variant)	not provided	GLikely benign
Select item 881742	NM_002234.4(KCNA5):c.-210G>C	KCNA5	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 309329	NM_002234.4(KCNA5):c.-167C>T	KCNA5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 882891	NM_002234.4(KCNA5):c.-85G>C	KCNA5	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 882892	NM_002234.4(KCNA5):c.-52G>T	KCNA5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 309330	NM_002234.4(KCNA5):c.-49G>C	KCNA5	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 858451	NM_002234.4(KCNA5):c.1A>G (p.Met1Val)	KCNA5 (M1V)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2920095	NM_002234.4(KCNA5):c.2T>C (p.Met1Thr)	KCNA5 (M1T)	Single nucleotide variant (missense variant +1 more)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2584602	NM_002234.4(KCNA5):c.10G>T (p.Ala4Ser)	KCNA5 (A4S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 960087	NM_002234.4(KCNA5):c.14T>C (p.Leu5Pro)	KCNA5 (L5P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2157022	NM_002234.4(KCNA5):c.20C>G (p.Pro7Arg)	KCNA5 (P7R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 662585	NM_002234.4(KCNA5):c.28A>G (p.Asn10Asp)	KCNA5 (N10D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1523737	NM_002234.4(KCNA5):c.30CGG[3] (p.Gly12dup)	KCNA5	Microsatellite (inframe_insertion)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1466314	NM_002234.4(KCNA5):c.33_34del (p.Gly12fs)	KCNA5 (G12fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1506184	NM_002234.4(KCNA5):c.35G>A (p.Gly12Asp)	KCNA5 (G12D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 469592	NM_002234.4(KCNA5):c.36T>G (p.Gly12=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 309331	NM_002234.4(KCNA5):c.36T>C (p.Gly12=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GConflicting classifications of pathogenicity
Select item 1518431	NM_002234.4(KCNA5):c.41T>G (p.Met14Arg)	KCNA5 (M14R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7 +1 more	GUncertain significance
Select item 2694243	NM_002234.4(KCNA5):c.43A>G (p.Thr15Ala)	KCNA5 (T15A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2880475	NM_002234.4(KCNA5):c.44C>T (p.Thr15Ile)	KCNA5 (T15I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2887561	NM_002234.4(KCNA5):c.56G>A (p.Gly19Asp)	KCNA5 (G19D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1006528	NM_002234.4(KCNA5):c.61G>A (p.Glu21Lys)	KCNA5 (E21K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1953859	NM_002234.4(KCNA5):c.64G>A (p.Ala22Thr)	KCNA5 (A22T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1913177	NM_002234.4(KCNA5):c.67C>T (p.Arg23Trp)	KCNA5 (R23W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1001400	NM_002234.4(KCNA5):c.68G>A (p.Arg23Gln)	KCNA5 (R23Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2894922	NM_002234.4(KCNA5):c.69G>A (p.Arg23=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 957605	NM_002234.4(KCNA5):c.70G>T (p.Ala24Ser)	KCNA5 (A24S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 700308	NM_002234.4(KCNA5):c.78C>T (p.Cys26=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 469598	NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser)	KCNA5 (G27S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 697538	NM_002234.4(KCNA5):c.86C>A (p.Ala29Asp)	KCNA5 (A29D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 806777	NM_002234.4(KCNA5):c.95dup (p.Glu33fs)	KCNA5 (E33fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 855013	NM_002234.4(KCNA5):c.91G>C (p.Gly31Arg)	KCNA5 (G31R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1207644	NM_002234.4(KCNA5):c.92G>C (p.Gly31Ala)	KCNA5 (G31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309332	NM_002234.4(KCNA5):c.92G>T (p.Gly31Val)	KCNA5 (G31V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1919830	NM_002234.4(KCNA5):c.95G>A (p.Gly32Glu)	KCNA5 (G32E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2236540	NM_002234.4(KCNA5):c.97G>C (p.Glu33Gln)	KCNA5 (E33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 537313	NM_002234.4(KCNA5):c.98A>T (p.Glu33Val)	KCNA5 (E33V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7 +1 more	GUncertain significance
Select item 566847	NM_002234.4(KCNA5):c.106T>A (p.Cys36Ser)	KCNA5 (C36S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2252534	NM_002234.4(KCNA5):c.110C>T (p.Pro37Leu)	KCNA5 (P37L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7 +1 more	GUncertain significance
Select item 842980	NM_002234.4(KCNA5):c.115A>C (p.Thr39Pro)	KCNA5 (T39P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2726507	NM_002234.4(KCNA5):c.116C>A (p.Thr39Lys)	KCNA5 (T39K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1141170	NM_002234.4(KCNA5):c.135G>A (p.Gly45=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 309333	NM_002234.4(KCNA5):c.140A>G (p.Lys47Arg)	KCNA5 (K47R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2711762	NM_002234.4(KCNA5):c.142G>A (p.Glu48Lys)	KCNA5 (E48K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 127137	NM_002234.4(KCNA5):c.143A>G (p.Glu48Gly)	KCNA5 (E48G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GPathogenic
Select item 1570693	NM_002234.4(KCNA5):c.147G>C (p.Pro49=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 2060926	NM_002234.4(KCNA5):c.148G>A (p.Ala50Thr)	KCNA5 (A50T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 957629	NM_002234.4(KCNA5):c.156G>T (p.Lys52Asn)	KCNA5 (K52N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 3113037	NM_002234.4(KCNA5):c.158G>T (p.Gly53Val)	KCNA5 (G53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2713568	NM_002234.4(KCNA5):c.158G>A (p.Gly53Glu)	KCNA5 (G53E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1993012	NM_002234.4(KCNA5):c.159G>C (p.Gly53=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1386040	NM_002234.4(KCNA5):c.160C>T (p.Arg54Cys)	KCNA5 (R54C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1100977	NM_002234.4(KCNA5):c.162C>T (p.Arg54=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 2098473	NM_002234.4(KCNA5):c.166G>T (p.Ala56Ser)	KCNA5 (A56S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2671706	NM_002234.4(KCNA5):c.167C>T (p.Ala56Val)	KCNA5 (A56V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1426309	NM_002234.4(KCNA5):c.173G>T (p.Arg58Ile)	KCNA5 (R58I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2979831	NM_002234.4(KCNA5):c.178G>T (p.Ala60Ser)	KCNA5 (A60S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1402989	NM_002234.4(KCNA5):c.179C>G (p.Ala60Gly)	KCNA5 (A60G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 309334	NM_002234.4(KCNA5):c.180G>A (p.Ala60=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GBenign/Likely benign
Select item 2143656	NM_002234.4(KCNA5):c.183C>T (p.Asp61=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 469589	NM_002234.4(KCNA5):c.213_245dup (p.Asp72_Pro82dup)	KCNA5	Duplication (inframe_insertion)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 537316	NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del)	KCNA5	Deletion (inframe_deletion)	Atrial fibrillation, familial, 7 +2 more	GConflicting classifications of pathogenicity
Select item 2813355	NM_002234.4(KCNA5):c.186G>A (p.Ser62=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 883690	NM_002234.4(KCNA5):c.186G>C (p.Ser62=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GConflicting classifications of pathogenicity
Select item 640925	NM_002234.4(KCNA5):c.188G>T (p.Gly63Val)	KCNA5 (G63V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2865106	NM_002234.4(KCNA5):c.190G>A (p.Val64Met)	KCNA5 (V64M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 1401129	NM_002234.4(KCNA5):c.193C>T (p.Arg65Trp)	KCNA5 (R65W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3113039	NM_002234.4(KCNA5):c.194G>C (p.Arg65Pro)	KCNA5 (R65P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 665674	NM_002234.4(KCNA5):c.196C>T (p.Pro66Ser)	KCNA5 (P66S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7 +1 more	GUncertain significance
Select item 2154856	NM_002234.4(KCNA5):c.206C>T (p.Pro69Leu)	KCNA5 (P69L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 700169	NM_002234.4(KCNA5):c.207G>T (p.Pro69=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GBenign
Select item 945889	NM_002234.4(KCNA5):c.214G>C (p.Asp72His)	KCNA5 (D72H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7 +2 more	GUncertain significance
Select item 1987471	NM_002234.4(KCNA5):c.217C>T (p.Pro73Ser)	KCNA5 (P73S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2105127	NM_002234.4(KCNA5):c.219G>A (p.Pro73=)	KCNA5	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 537319	NM_002234.4(KCNA5):c.221G>A (p.Gly74Glu)	KCNA5 (G74E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GLikely benign
Select item 1061754	NM_002234.4(KCNA5):c.227G>T (p.Arg76Leu)	KCNA5 (R76L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 2730085	NM_002234.4(KCNA5):c.229C>G (p.Pro77Ala)	KCNA5 (P77A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance
Select item 469590	NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser)	KCNA5 (P77S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7 +1 more	GBenign/Likely benign
Select item 653091	NM_002234.4(KCNA5):c.230C>G (p.Pro77Arg)	KCNA5 (P77R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 7	GUncertain significance

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