MYL6[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 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 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2229507	NM_021019.5(MYL6):c.4T>C (p.Cys2Arg)	LOC130008055, MYL6 (C2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317011	NM_021019.5(MYL6):c.7G>A (p.Asp3Asn)	LOC130008055, MYL6 (D3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493660	NM_021019.5(MYL6):c.95G>A (p.Cys32Tyr)	LOC130008057, MYL6 (C32Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223022	NM_021019.5(MYL6):c.340G>C (p.Val114Leu)	MYL6 (V79L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530968	NM_021019.5(MYL6):c.350G>A (p.Gly117Asp)	MYL6 (G117D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388373	NM_021019.5(MYL6):c.431T>C (p.Phe144Ser)	MYL6 (F144S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681422	NM_021019.5(MYL6):c.*16+4C>T	MYL6	Single nucleotide variant (intron variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
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