"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126862 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211563	NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)	LOC126862494, MYH8 +1 more (R1178C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129674	NM_002472.3(MYH8):c.3270C>T (p.Ile1090=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 129673	NM_002472.3(MYH8):c.3117G>A (p.Gly1039=)	LOC126862494, MYH8 +1 more	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 258719	NM_002472.3(MYH8):c.3108+20C>A	LOC126862494, MYH8 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2630478	NM_002472.3(MYH8):c.2998_2999delinsGC (p.Lys1000Ala)	LOC126862494, MYH8 +1 more (K1000A)	Indel (missense variant)	MYH8-related disorder	GUncertain significance

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