MYL9[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2479893	NM_006097.5(MYL9):c.134G>A (p.Arg45His)	DLGAP4-AS1, MYL9 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 818204	NM_006097.5(MYL9):c.184+2_184+10del	DLGAP4-AS1, MYL9	Deletion (splice donor variant)	Visceral myopathy 1	GUncertain significance
Select item 3159626	NM_006097.5(MYL9):c.213G>C (p.Glu71Asp)	DLGAP4-AS1, MYL9 (E71D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456943	NM_006097.5(MYL9):c.290C>T (p.Thr97Met)	DLGAP4-AS1, MYL9 (T97M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379836	NM_006097.5(MYL9):c.298G>A (p.Glu100Lys)	DLGAP4-AS1, MYL9 (E100K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351120	NM_006097.5(MYL9):c.316G>A (p.Ala106Thr)	DLGAP4-AS1, MYL9 (A106T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328036	NM_006097.5(MYL9):c.326G>C (p.Cys109Ser)	DLGAP4-AS1, MYL9 (C109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437907	NC_000020.11:g.36548744_36555707del	DLGAP4-AS1, MYL9	Deletion	Visceral myopathy 1	GLikely pathogenic
Select item 2213404	NM_006097.5(MYL9):c.431G>A (p.Arg144Gln)	DLGAP4-AS1, MYL9 (R144Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677428	NM_006097.5(MYL9):c.445G>C (p.Asp149His)	DLGAP4-AS1, MYL9 (D149H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241405	NM_006097.5(MYL9):c.510A>C (p.Lys170Asn)	DLGAP4-AS1, MYL9 (K116N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230425	NM_006097.5(MYL9):c.511G>C (p.Asp171His)	DLGAP4-AS1, MYL9 (D171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 818205	GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1	MYL9	Copy number loss	Visceral myopathy 1	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 21