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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 770256	NM_194436.3(LDHD):c.1276G>A (p.Glu426Lys)	LDHD (E449K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 768793	NM_194436.3(LDHD):c.1260G>C (p.Arg420Ser)	LDHD (R420S +1 more)	Single nucleotide variant (missense variant)	LDHD-related disorder +1 more	GBenign
Select item 3039202	NM_194436.3(LDHD):c.738A>G (p.Thr246=)	LDHD	Single nucleotide variant (synonymous variant)	LDHD-related disorder	GBenign
Select item 3043012	NM_194436.3(LDHD):c.678G>A (p.Glu226=)	LDHD	Single nucleotide variant (synonymous variant)	LDHD-related disorder	GLikely benign
Select item 3051696	NM_194436.3(LDHD):c.666C>T (p.Phe222=)	LDHD	Single nucleotide variant (synonymous variant)	LDHD-related disorder	GLikely benign
Select item 3057222	NM_194436.3(LDHD):c.629+6C>T	LDHD	Single nucleotide variant (intron variant)	LDHD-related disorder	GBenign
Select item 1711412	NM_194436.3(LDHD):c.622C>T (p.His208Tyr)	LDHD (H208Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 770257	NM_194436.3(LDHD):c.531G>C (p.Ala177=)	LDHD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 720511	NM_194436.3(LDHD):c.474A>G (p.Pro158=)	LDHD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 768794	NM_194436.3(LDHD):c.470-10C>T	LDHD	Single nucleotide variant (intron variant)	LDHD-related disorder +1 more	GBenign
Select item 3040166	NM_194436.3(LDHD):c.72+5C>T	LDHD	Single nucleotide variant (intron variant)	LDHD-related disorder	GBenign