ClinVar for Gene (Select 101926987) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297582	NM_006097.5(MYL9):c.331G>A (p.Asp111Asn)	DLGAP4-AS1, MYL9 (D111N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297581	NM_006097.5(MYL9):c.397C>T (p.Arg133Cys)	DLGAP4-AS1, MYL9 (R79C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297579	NM_006097.5(MYL9):c.426G>A (p.Met142Ile)	DLGAP4-AS1, MYL9 (M142I +1 more)	Single nucleotide variant (missense variant)	not specified	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 3082863	NM_001365621.2(DLGAP4):c.2749G>C (p.Glu917Gln)	DLGAP4, DLGAP4-AS1 (E210Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652299	NM_001365621.2(DLGAP4):c.2814G>A (p.Pro938=)	DLGAP4, DLGAP4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540047	NM_001365621.2(DLGAP4):c.2785G>T (p.Val929Phe)	DLGAP4, DLGAP4-AS1 (V929F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524571	NM_001365621.2(DLGAP4):c.2783C>T (p.Pro928Leu)	DLGAP4, DLGAP4-AS1 (P234L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2470017	NM_001365621.2(DLGAP4):c.2833G>A (p.Ala945Thr)	DLGAP4, DLGAP4-AS1 (A238T +5 more)	Single nucleotide variant (missense variant)	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 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 2225813	NM_001365621.2(DLGAP4):c.2779C>A (p.Pro927Thr)	DLGAP4-AS1, DLGAP4 (P233T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2207694	NM_001365621.2(DLGAP4):c.2824C>T (p.Arg942Cys)	DLGAP4, DLGAP4-AS1 (R235C +5 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 818204	NM_006097.5(MYL9):c.184+2_184+10del	DLGAP4-AS1, MYL9	Deletion (splice donor variant)	Visceral myopathy 1	GUncertain significance
Select item 769088	NM_001365621.2(DLGAP4):c.2535T>C (p.Ala845=)	DLGAP4, DLGAP4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753648	NM_001365621.2(DLGAP4):c.2778C>T (p.Pro926=)	DLGAP4, DLGAP4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437907	NC_000020.11:g.36548744_36555707del	DLGAP4-AS1, MYL9	Deletion	Visceral myopathy 1	GLikely pathogenic
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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28