LDAH[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118205	NM_021925.4(LDAH):c.911C>A (p.Thr304Asn)	LDAH (T256N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118204	NM_021925.4(LDAH):c.836A>G (p.Tyr279Cys)	LDAH (Y149C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467600	NM_021925.4(LDAH):c.768A>G (p.Ile256Met)	LDAH (I208M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118203	NM_021925.4(LDAH):c.684A>G (p.Ile228Met)	LDAH (I228M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3290343	NM_021925.4(LDAH):c.658G>A (p.Glu220Lys)	LDAH (E178K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3118201	NM_021925.4(LDAH):c.475C>G (p.Arg159Gly)	LDAH (R111G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118200	NM_021925.4(LDAH):c.467C>T (p.Pro156Leu)	LDAH (P114L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 789267	NM_021925.4(LDAH):c.452G>A (p.Arg151Gln)	LDAH (R103Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3290342	NM_021925.4(LDAH):c.418A>G (p.Ile140Val)	LDAH (I140V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3118199	NM_021925.4(LDAH):c.407T>A (p.Ile136Asn)	LDAH (I6N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290345	NM_021925.4(LDAH):c.391A>G (p.Met131Val)	LDAH (M89V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650708	NM_021925.4(LDAH):c.349G>A (p.Glu117Lys)	LDAH (E117K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3118198	NM_021925.4(LDAH):c.256G>A (p.Ala86Thr)	LDAH (A86T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3118197	NM_021925.4(LDAH):c.220C>T (p.Arg74Cys)	LDAH (R74C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3290344	NM_021925.4(LDAH):c.217A>G (p.Arg73Gly)	LDAH (R73G)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2303845	NM_021925.4(LDAH):c.94A>G (p.Thr32Ala)	LDAH (T32A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 22