"Ambry Genetics"[submitter] AND "LDAH"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2467600	NM_021925.4(LDAH):c.768A>G (p.Ile256Met)	LDAH (I208M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294672	NM_021925.4(LDAH):c.680A>G (p.Asn227Ser)	LDAH (N179S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523264	NM_021925.4(LDAH):c.547T>G (p.Leu183Val)	LDAH (L135V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331991	NM_021925.4(LDAH):c.524A>G (p.Asn175Ser)	LDAH (N127S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292550	NM_021925.4(LDAH):c.506G>A (p.Arg169Gln)	LDAH (R39Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518324	NM_021925.4(LDAH):c.214A>G (p.Asn72Asp)	LDAH (N72D)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2232858	NM_021925.4(LDAH):c.178T>C (p.Tyr60His)	LDAH (Y60H)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2303845	NM_021925.4(LDAH):c.94A>G (p.Thr32Ala)	LDAH (T32A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance