ClinVar for Gene (Select 140465) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297577	NM_002475.5(MYL6B):c.622G>A (p.Val208Ile)	MYL6B, MYL6B-AS1 (V208I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3159561	NM_002475.5(MYL6B):c.475G>C (p.Gly159Arg)	MYL6B, MYL6B-AS1 (G159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159553	NM_002475.5(MYL6B):c.475G>A (p.Gly159Ser)	MYL6B, MYL6B-AS1 (G159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159542	NM_002475.5(MYL6B):c.451C>T (p.Arg151Cys)	MYL6B, MYL6B-AS1 (R151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159513	NM_002475.5(MYL6B):c.265T>C (p.Cys89Arg)	MYL6B, MYL6B-AS1 (C89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455951	NM_002475.5(MYL6B):c.239G>A (p.Gly80Glu)	MYL6B, MYL6B-AS1 (G80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360406	NM_002475.5(MYL6B):c.334C>T (p.Pro112Ser)	MYL6B, MYL6B-AS1 (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293962	NM_002475.5(MYL6B):c.209A>G (p.Lys70Arg)	MYL6B, MYL6B-AS1 (K70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291643	NM_002475.5(MYL6B):c.388A>T (p.Met130Leu)	MYL6B, MYL6B-AS1 (M130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288174	NM_002475.5(MYL6B):c.307G>A (p.Ala103Thr)	MYL6B, MYL6B-AS1 (A103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279235	NM_002475.5(MYL6B):c.277A>G (p.Met93Val)	MYL6B, MYL6B-AS1 (M93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271689	NM_002475.5(MYL6B):c.533C>G (p.Thr178Ser)	MYL6B, MYL6B-AS1 (T178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251371	NM_002475.5(MYL6B):c.317T>C (p.Leu106Pro)	MYL6B, MYL6B-AS1 (L106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229823	NM_002475.5(MYL6B):c.267T>G (p.Cys89Trp)	MYL6B, MYL6B-AS1 (C89W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 980439	GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3	CDK2, DGKA +13 more	Copy number gain	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24