LOC126861896[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1950361	NM_002471.4(MYH6):c.5163+15A>G	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 391915	NM_002471.4(MYH6):c.5163+3G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1479837	NM_002471.4(MYH6):c.5161C>T (p.Gln1721Ter)	LOC126861896, MYH6 (Q1721*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2587183	NM_002471.4(MYH6):c.5153T>A (p.Leu1718Gln)	LOC126861896, MYH6 (L1718Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3222351	NM_002471.4(MYH6):c.5148G>C (p.Gln1716His)	LOC126861896, MYH6 (Q1716H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567193	NM_002471.4(MYH6):c.5148G>T (p.Gln1716His)	LOC126861896, MYH6 (Q1716H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1086263	NM_002471.4(MYH6):c.5148G>A (p.Gln1716=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2567192	NM_002471.4(MYH6):c.5142G>C (p.Arg1714=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1567592	NM_002471.4(MYH6):c.5142G>A (p.Arg1714=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2061786	NM_002471.4(MYH6):c.5141G>A (p.Arg1714Gln)	LOC126861896, MYH6 (R1714Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518502	NM_002471.4(MYH6):c.5141G>C (p.Arg1714Pro)	LOC126861896, MYH6 (R1714P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 239178	NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 191708	NM_002471.4(MYH6):c.5140C>T (p.Arg1714Trp)	LOC126861896, MYH6 (R1714W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 263451	NM_002471.4(MYH6):c.5137G>A (p.Glu1713Lys)	LOC126861896, MYH6 (E1713K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 239177	NM_002471.4(MYH6):c.5137G>C (p.Glu1713Gln)	LOC126861896, MYH6 (E1713Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2444779	NM_002471.4(MYH6):c.5136C>G (p.Ser1712Arg)	LOC126861896, MYH6 (S1712R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304949	NM_002471.4(MYH6):c.5136C>A (p.Ser1712Arg)	MYH6, LOC126861896 (S1712R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44531	NM_002471.4(MYH6):c.5136C>T (p.Ser1712=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 191709	NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)	LOC126861896, MYH6 (S1712I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +7 more	GUncertain significance
Select item 1745566	NM_002471.4(MYH6):c.5134A>C (p.Ser1712Arg)	LOC126861896, MYH6 (S1712R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 537979	NM_002471.4(MYH6):c.5133C>G (p.Thr1711=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2908497	NM_002471.4(MYH6):c.5130G>T (p.Glu1710Asp)	LOC126861896, MYH6 (E1710D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1174659	NM_002471.4(MYH6):c.5129A>T (p.Glu1710Val)	LOC126861896, MYH6 (E1710V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 651409	NM_002471.4(MYH6):c.5128G>A (p.Glu1710Lys)	LOC126861896, MYH6 (E1710K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3158272	NM_002471.4(MYH6):c.5125A>T (p.Ile1709Phe)	LOC126861896, MYH6 (I1709F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3297480	NM_002471.4(MYH6):c.5124G>A (p.Leu1708=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 227592	NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 523452	NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val)	LOC126861896, MYH6 (A1704V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 2452907	NM_002471.4(MYH6):c.5102G>T (p.Arg1701Leu)	LOC126861896, MYH6 (R1701L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 537951	NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln)	LOC126861896, MYH6 (R1701Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 228896	NM_002471.4(MYH6):c.5101C>T (p.Arg1701Trp)	LOC126861896, MYH6 (R1701W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3222350	NM_002471.4(MYH6):c.5096G>A (p.Arg1699Gln)	LOC126861896, MYH6 (R1699Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745298	NM_002471.4(MYH6):c.5096G>T (p.Arg1699Leu)	LOC126861896, MYH6 (R1699L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2567191	NM_002471.4(MYH6):c.5095C>A (p.Arg1699=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 938031	NM_002471.4(MYH6):c.5095C>T (p.Arg1699Trp)	LOC126861896, MYH6 (R1699W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 1745272	NM_002471.4(MYH6):c.5090C>T (p.Thr1697Ile)	LOC126861896, MYH6 (T1697I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 164214	NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala)	LOC126861896, MYH6 (T1697A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 695785	NM_002471.4(MYH6):c.5085G>A (p.Glu1695=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3345545	NM_002471.4(MYH6):c.5077G>T (p.Val1693Leu)	LOC126861896, MYH6 (V1693L)	Single nucleotide variant (missense variant)	MYH6-related disorder	GUncertain significance
Select item 373555	NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)	LOC126861896, MYH6 (V1693M)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 724222	NM_002471.4(MYH6):c.5076C>T (p.Ala1692=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2587174	NM_002471.4(MYH6):c.5073T>A (p.Arg1691=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1745167	NM_002471.4(MYH6):c.5073T>G (p.Arg1691=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 726995	NM_002471.4(MYH6):c.5073T>C (p.Arg1691=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178868	NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)	LOC126861896, MYH6 (R1691H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 1026007	NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys)	LOC126861896, MYH6 (R1691C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1745157	NM_002471.4(MYH6):c.5070G>A (p.Leu1690=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1022727	NM_002471.4(MYH6):c.5069T>G (p.Leu1690Arg)	LOC126861896, MYH6 (L1690R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1745132	NM_002471.4(MYH6):c.5068C>T (p.Leu1690=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 698541	NM_002471.4(MYH6):c.5067G>A (p.Glu1689=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 179250	NM_002471.4(MYH6):c.5062G>A (p.Glu1688Lys)	LOC126861896, MYH6 (E1688K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 1745063	NM_002471.4(MYH6):c.5055T>C (p.Ala1685=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1184879	NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter)	LOC126861896, MYH6 (Q1684*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2074242	NM_002471.4(MYH6):c.5046dup (p.Leu1683fs)	LOC126861896, MYH6 (L1683fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1427430	NM_002471.4(MYH6):c.5045T>C (p.Leu1682Pro)	LOC126861896, MYH6 (L1682P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2567216	NM_002471.4(MYH6):c.5040C>T (p.Asn1680=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447212	NM_002471.4(MYH6):c.5037C>T (p.Arg1679=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1061423	NM_002471.4(MYH6):c.5036G>A (p.Arg1679His)	LOC126861896, MYH6 (R1679H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 100839	NM_002471.4(MYH6):c.5036G>T (p.Arg1679Leu)	LOC126861896, MYH6 (R1679L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058042	NM_002471.4(MYH6):c.5035C>T (p.Arg1679Cys)	LOC126861896, MYH6 (R1679C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 568765	NM_002471.4(MYH6):c.5033G>A (p.Arg1678Gln)	LOC126861896, MYH6 (R1678Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2447210	NM_002471.4(MYH6):c.5032C>T (p.Arg1678Trp)	LOC126861896, MYH6 (R1678W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 861577	NM_002471.4(MYH6):c.5026G>A (p.Val1676Met)	LOC126861896, MYH6 (V1676M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1129422	NM_002471.4(MYH6):c.5025C>T (p.Ile1675=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1421998	NM_002471.4(MYH6):c.5020G>A (p.Ala1674Thr)	LOC126861896, MYH6 (A1674T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GConflicting classifications of pathogenicity
Select item 1916173	NM_002471.4(MYH6):c.5019C>A (p.Ile1673=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 44530	NM_002471.4(MYH6):c.5019C>T (p.Ile1673=)	MYH6, LOC126861896	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2644096	NM_002471.4(MYH6):c.5004C>T (p.Asp1668=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1744734	NM_002471.4(MYH6):c.5004C>A (p.Asp1668Glu)	LOC126861896, MYH6 (D1668E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1398688	NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)	LOC126861896, MYH6 (D1668H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 952664	NM_002471.4(MYH6):c.5002G>A (p.Asp1668Asn)	LOC126861896, MYH6 (D1668N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 220701	NM_002471.4(MYH6):c.5001C>T (p.Asp1667=)	MYH6, LOC126861896	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +1 more	GLikely benign
Select item 312848	NM_002471.4(MYH6):c.4999G>A (p.Asp1667Asn)	LOC126861896, MYH6 (D1667N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3222348	NM_002471.4(MYH6):c.4998C>T (p.Asn1666=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 795703	NM_002471.4(MYH6):c.4995C>T (p.Ala1665=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 1507368	NM_002471.4(MYH6):c.4993G>A (p.Ala1665Thr)	LOC126861896, MYH6 (A1665T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +2 more	GUncertain significance
Select item 407143	NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)	LOC126861896, MYH6 (R1664H)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 839928	NM_002471.4(MYH6):c.4990C>T (p.Arg1664Cys)	LOC126861896, MYH6 (R1664C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 2452920	NM_002471.4(MYH6):c.4988T>A (p.Val1663Asp)	LOC126861896, MYH6 (V1663D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44529	NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1355033	NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val)	LOC126861896, MYH6 (A1662V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1588850	NM_002471.4(MYH6):c.4983T>C (p.Asp1661=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 1352902	NM_002471.4(MYH6):c.4981G>A (p.Asp1661Asn)	LOC126861896, MYH6 (D1661N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 44528	NM_002471.4(MYH6):c.4980C>T (p.Asp1660=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1744498	NM_002471.4(MYH6):c.4977G>A (p.Leu1659=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1744490	NM_002471.4(MYH6):c.4975C>G (p.Leu1659Val)	LOC126861896, MYH6 (L1659V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1628579	NM_002471.4(MYH6):c.4971C>T (p.Ile1657=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 2729172	NM_002471.4(MYH6):c.4960G>A (p.Asp1654Asn)	LOC126861896, MYH6 (D1654N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1022402	NM_002471.4(MYH6):c.4960-3C>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 179576	NM_002471.4(MYH6):c.4960-9G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +7 more	GBenign
Select item 36632	NM_002471.4(MYH6):c.4960-17A>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +2 more	GBenign

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