ClinVar for Gene (Select 126862495) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158029	NM_017533.2(MYH4):c.5159T>C (p.Leu1720Pro)	LOC126862495, MYH4 +1 more (L1720P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158026	NM_017533.2(MYH4):c.5146C>T (p.Arg1716Cys)	LOC126862495, MYH4 +1 more (R1716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158020	NM_017533.2(MYH4):c.5053A>C (p.Met1685Leu)	LOC126862495, MYH4 +1 more (M1685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595341	NM_017533.2(MYH4):c.5102G>A (p.Arg1701Lys)	LOC126862495, MYH4 +1 more (R1701K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2556175	NM_017533.2(MYH4):c.4797G>C (p.Glu1599Asp)	LOC126862495, MYH4 +1 more (E1599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512877	NM_017533.2(MYH4):c.4991C>T (p.Ala1664Val)	LOC126862495, MYH4 +1 more (A1664V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468844	NM_017533.2(MYH4):c.4963A>C (p.Lys1655Gln)	LOC126862495, MYH4 +1 more (K1655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362177	NM_017533.2(MYH4):c.5092C>T (p.Arg1698Trp)	LOC126862495, MYH4 +1 more (R1698W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344020	NM_017533.2(MYH4):c.4921G>A (p.Ala1641Thr)	LOC126862495, MYH4 +1 more (A1641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331826	NM_017533.2(MYH4):c.4803G>A (p.Met1601Ile)	LOC126862495, MYH4 +1 more (M1601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247199	NM_017533.2(MYH4):c.4764T>A (p.Asp1588Glu)	LOC126862495, MYH4 +1 more (D1588E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184412	NC_000017.11:g.10078000_10512000dup	MYH13, MYH4 +18 more	Duplication	not provided	GUncertain significance
Select item 1098572	GRCh38/hg38 17p13.1(chr17:10106970-10512523)x3	GAS7, LOC112529894 +18 more	Copy number gain	See cases	GUncertain significance
Select item 781257	NM_017533.2(MYH4):c.4808G>A (p.Ser1603Asn)	LOC126862495, MYH4 +1 more (S1603N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 147857	GRCh38/hg38 17p13.1(chr17:10145851-10464716)x3	GAS7, LOC112529894 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 91994	NM_017533.2(MYH4):c.4849A>G (p.Arg1617Gly)	LOC126862495, MYH4 +1 more (R1617G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60133	GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3	GAS7, LOC112529894 +14 more	Copy number gain	See cases	GUncertain significance
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 24