7585[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1990377	NM_002476.2(MYL4):c.6T>C (p.Ala2=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1345562	NM_002476.2(MYL4):c.11A>G (p.Lys4Arg)	MYL4 (K4R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1509929	NM_002476.2(MYL4):c.14A>G (p.Lys5Arg)	MYL4 (K5R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2071302	NM_002476.2(MYL4):c.19G>A (p.Glu7Lys)	MYL4 (E7K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2892720	NM_002476.2(MYL4):c.22C>G (p.Pro8Ala)	MYL4 (P8A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18 +1 more	GUncertain significance
Select item 476200	NM_002476.2(MYL4):c.23C>T (p.Pro8Leu)	MYL4 (P8L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2622218	NM_002476.2(MYL4):c.25A>G (p.Lys9Glu)	MYL4 (K9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019370	NM_002476.2(MYL4):c.30G>C (p.Lys10Asn)	MYL4 (K10N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 224067	NM_002476.2(MYL4):c.31G>A (p.Glu11Lys)	MYL4 (E11K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GPathogenic
Select item 1427245	NM_002476.2(MYL4):c.38C>T (p.Ala13Val)	MYL4 (A13V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 944761	NM_002476.2(MYL4):c.48TCCAGC[4] (p.16AP[9])	MYL4	Microsatellite (inframe_insertion)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1945778	NM_002476.2(MYL4):c.48TCCAGC[1] (p.16AP[6])	MYL4	Microsatellite (inframe_deletion)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1056249	NM_002476.2(MYL4):c.48TCCAGC[2] (p.16AP[7])	MYL4	Microsatellite (inframe_deletion)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1456150	NM_002476.2(MYL4):c.57A>G (p.Pro19=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 2731438	NM_002476.2(MYL4):c.60_71del (p.16AP[6])	MYL4	Deletion (inframe_deletion)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2734686	NM_002476.2(MYL4):c.66C>T (p.Ala22=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1043151	NM_002476.2(MYL4):c.68C>T (p.Pro23Leu)	MYL4 (P23L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2768617	NM_002476.2(MYL4):c.70G>T (p.Ala24Ser)	MYL4 (A24S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2961529	NM_002476.2(MYL4):c.72A>G (p.Ala24=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 2197754	NM_002476.2(MYL4):c.78_89dup (p.Pro31_Glu32insAlaProAlaPro)	MYL4	Duplication (inframe_insertion)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1651475	NM_002476.2(MYL4):c.72A>C (p.Ala24=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1358721	NM_002476.2(MYL4):c.82G>A (p.Ala28Thr)	MYL4 (A28T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 940256	NM_002476.2(MYL4):c.100_102dup (p.Pro34dup)	MYL4	Duplication (inframe_insertion)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2018865	NM_002476.2(MYL4):c.102C>T (p.Pro34=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1997181	NM_002476.2(MYL4):c.103A>G (p.Lys35Glu)	MYL4 (K35E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 861142	NM_002476.2(MYL4):c.113C>G (p.Ala38Gly)	MYL4 (A38G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 542789	NM_002476.2(MYL4):c.113C>A (p.Ala38Asp)	MYL4 (A38D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1983559	NM_002476.2(MYL4):c.125A>G (p.Lys42Arg)	MYL4 (K42R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 852295	NM_002476.2(MYL4):c.128G>A (p.Ser43Asn)	MYL4 (S43N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2534904	NM_002476.2(MYL4):c.129T>A (p.Ser43Arg)	MYL4 (S43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 854808	NM_002476.2(MYL4):c.131T>C (p.Val44Ala)	MYL4 (V44A)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 962172	NM_002476.2(MYL4):c.135G>A (p.Lys45=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2147045	NM_002476.2(MYL4):c.135+1G>A	MYL4	Single nucleotide variant (splice donor variant)	Atrial fibrillation, familial, 18	GLikely pathogenic
Select item 2817467	NM_002476.2(MYL4):c.135+14A>G	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1284100	NM_002476.2(MYL4):c.135+197G>A	MYL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221612	NM_002476.2(MYL4):c.136-277T>G	MYL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223029	NM_002476.2(MYL4):c.136-137A>G	MYL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316901	NM_002476.2(MYL4):c.136-106G>A	MYL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178801	NM_002476.2(MYL4):c.136-56del	MYL4	Deletion (intron variant)	not provided	GBenign
Select item 2089894	NM_002476.2(MYL4):c.136-3C>T	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1504023	NM_002476.2(MYL4):c.136A>T (p.Ile46Leu)	MYL4 (I46L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1025818	NM_002476.2(MYL4):c.136A>G (p.Ile46Val)	MYL4 (I46V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18 +1 more	GUncertain significance
Select item 1050366	NM_002476.2(MYL4):c.137T>G (p.Ile46Arg)	MYL4 (I46R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18 +1 more	GUncertain significance
Select item 938781	NM_002476.2(MYL4):c.137T>C (p.Ile46Thr)	MYL4 (I46T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18 +1 more	GUncertain significance
Select item 2758813	NM_002476.2(MYL4):c.150C>G (p.Ala50=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 476198	NM_002476.2(MYL4):c.150C>T (p.Ala50=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18 +1 more	GBenign/Likely benign
Select item 1017440	NM_002476.2(MYL4):c.153C>G (p.Asp51Glu)	MYL4 (D51E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 844701	NM_002476.2(MYL4):c.159T>G (p.Ile53Met)	MYL4 (I53M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2121055	NM_002476.2(MYL4):c.163+6T>A	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1926635	NM_002476.2(MYL4):c.163+16C>T	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 2896379	NM_002476.2(MYL4):c.163+17C>G	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 2196342	NM_002476.2(MYL4):c.163+17C>A	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1237126	NM_002476.2(MYL4):c.163+46GGA[8]	MYL4	Microsatellite (intron variant)	not provided	GBenign
Select item 1242408	NM_002476.2(MYL4):c.164-266C>T	MYL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221863	NM_002476.2(MYL4):c.164-157G>T	MYL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251632	NM_002476.2(MYL4):c.164-145C>G	MYL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2917770	NM_002476.2(MYL4):c.164-20G>A	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1178474	NM_002476.2(MYL4):c.164-18T>C	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18 +1 more	GBenign
Select item 2124518	NM_002476.2(MYL4):c.164-16G>A	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1574879	NM_002476.2(MYL4):c.164-13C>G	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1138221	NM_002476.2(MYL4):c.164-8C>T	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1668883	NM_002476.2(MYL4):c.164-4A>C	MYL4	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 3020997	NM_002476.2(MYL4):c.164-1G>C	MYL4	Single nucleotide variant (splice acceptor variant)	Atrial fibrillation, familial, 18	GLikely pathogenic
Select item 476199	NM_002476.2(MYL4):c.167T>C (p.Phe56Ser)	MYL4 (F56S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18 +1 more	GConflicting classifications of pathogenicity
Select item 2842835	NM_002476.2(MYL4):c.175G>T (p.Ala59Ser)	MYL4 (A59S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2896424	NM_002476.2(MYL4):c.184T>C (p.Leu62=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 2186195	NM_002476.2(MYL4):c.193C>T (p.Arg65Trp)	MYL4 (R65W)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 944027	NM_002476.2(MYL4):c.194G>A (p.Arg65Gln)	MYL4 (R65Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2828641	NM_002476.2(MYL4):c.196A>C (p.Thr66Pro)	MYL4 (T66P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1500746	NM_002476.2(MYL4):c.199C>T (p.Pro67Ser)	MYL4 (P67S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2418791	NM_002476.2(MYL4):c.200C>T (p.Pro67Leu)	MYL4 (P67L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 705545	NM_002476.2(MYL4):c.201G>A (p.Pro67=)	MYL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2182397	NM_002476.2(MYL4):c.203C>T (p.Thr68Ile)	MYL4 (T68I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2812561	NM_002476.2(MYL4):c.207A>T (p.Gly69=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 960717	NM_002476.2(MYL4):c.210G>T (p.Glu70Asp)	MYL4 (E70D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 957068	NM_002476.2(MYL4):c.211A>G (p.Met71Val)	MYL4 (M71V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 856654	NM_002476.2(MYL4):c.212T>G (p.Met71Arg)	MYL4 (M71R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1461155	NM_002476.2(MYL4):c.223T>A (p.Tyr75Asn)	MYL4 (Y75N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2153473	NM_002476.2(MYL4):c.225C>T (p.Tyr75=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 2706776	NM_002476.2(MYL4):c.230A>G (p.Gln77Arg)	MYL4 (Q77R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2978411	NM_002476.2(MYL4):c.231G>C (p.Gln77His)	MYL4 (Q77H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1498777	NM_002476.2(MYL4):c.232T>C (p.Cys78Arg)	MYL4 (C78R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18 +1 more	GUncertain significance
Select item 2065572	NM_002476.2(MYL4):c.233G>A (p.Cys78Tyr)	MYL4 (C78Y)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 3366361	NM_002476.2(MYL4):c.234C>A (p.Cys78Ter)	MYL4 (C78*)	Single nucleotide variant (nonsense)	Atrial fibrillation, familial, 18	GLikely pathogenic
Select item 1623214	NM_002476.2(MYL4):c.234C>T (p.Cys78=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 1430788	NM_002476.2(MYL4):c.234del (p.Cys78fs)	MYL4 (C78fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 18	GPathogenic
Select item 2740053	NM_002476.2(MYL4):c.235G>A (p.Gly79Arg)	MYL4 (G79R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 2829405	NM_002476.2(MYL4):c.236G>A (p.Gly79Glu)	MYL4 (G79E)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1468573	NM_002476.2(MYL4):c.248G>A (p.Arg83Gln)	MYL4 (R83Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1016119	NM_002476.2(MYL4):c.248G>T (p.Arg83Leu)	MYL4 (R83L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1056567	NM_002476.2(MYL4):c.251C>T (p.Ala84Val)	MYL4 (A84V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 705100	NM_002476.2(MYL4):c.252C>T (p.Ala84=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 2049700	NM_002476.2(MYL4):c.253C>G (p.Leu85Val)	MYL4 (L85V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 1118903	NM_002476.2(MYL4):c.276C>T (p.Ala92=)	MYL4	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 18	GLikely benign
Select item 476201	NM_002476.2(MYL4):c.277G>A (p.Glu93Lys)	MYL4 (E93K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1913187	NM_002476.2(MYL4):c.284T>C (p.Leu95Pro)	MYL4 (L95P)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 956038	NM_002476.2(MYL4):c.286C>T (p.Arg96Cys)	MYL4 (R96C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 18	GUncertain significance
Select item 857349	NM_002476.2(MYL4):c.287G>A (p.Arg96His)	MYL4 (R96H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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