"Ambry Genetics"[submitter] AND "TMEM44-AS2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2534685	NM_001011655.3(TMEM44):c.106G>T (p.Ala36Ser)	TMEM44, TMEM44-AS2 (A36S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216850	NM_001011655.3(TMEM44):c.38A>C (p.Asp13Ala)	TMEM44, TMEM44-AS2 (D13A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534686	NM_001011655.3(TMEM44):c.37G>A (p.Asp13Asn)	TMEM44, TMEM44-AS2 (D13N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613026	NM_001011655.3(TMEM44):c.7G>A (p.Glu3Lys)	LOC129938210, TMEM44 +1 more (E3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243274	NM_018385.3(LSG1):c.1970A>T (p.Asp657Val)	LSG1, TMEM44-AS2 (D657V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382283	NM_018385.3(LSG1):c.1965C>G (p.His655Gln)	LSG1, TMEM44-AS2 (H655Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473237	NM_018385.3(LSG1):c.1961A>G (p.Lys654Arg)	LSG1, TMEM44-AS2 (K654R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597289	NM_018385.3(LSG1):c.1948C>G (p.Arg650Gly)	LSG1, TMEM44-AS2 (R650G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402799	NM_018385.3(LSG1):c.1947T>G (p.Ser649Arg)	LSG1, TMEM44-AS2 (S649R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539518	NM_018385.3(LSG1):c.1880C>A (p.Ala627Glu)	LSG1, TMEM44-AS2 (A627E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396462	NM_018385.3(LSG1):c.1880C>T (p.Ala627Val)	LSG1, TMEM44-AS2 (A627V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2393646	NM_018385.3(LSG1):c.1774G>A (p.Val592Ile)	LSG1, TMEM44-AS2 (V592I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248539	NM_018385.3(LSG1):c.1734G>T (p.Gln578His)	TMEM44-AS2, LSG1 (Q578H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244887	NM_018385.3(LSG1):c.1721A>G (p.Glu574Gly)	LSG1, TMEM44-AS2 (E574G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485321	NM_018385.3(LSG1):c.1597C>T (p.Arg533Cys)	LSG1, TMEM44-AS2 (R533C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542158	NM_018385.3(LSG1):c.1559T>C (p.Met520Thr)	LSG1, TMEM44-AS2 (M520T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance