"Ambry Genetics"[submitter] AND "THEM4"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2554528	NM_053055.5(THEM4):c.608T>C (p.Val203Ala)	THEM4 (V203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486889	NM_053055.5(THEM4):c.604A>G (p.Lys202Glu)	THEM4 (K202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617247	NM_053055.5(THEM4):c.562A>G (p.Ile188Val)	THEM4 (I188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292733	NM_053055.5(THEM4):c.560C>T (p.Pro187Leu)	THEM4 (P187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325887	NM_053055.5(THEM4):c.411A>C (p.Leu137Phe)	THEM4 (L137F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177018	NM_053055.5(THEM4):c.370G>A (p.Val124Met)	THEM4 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493381	NM_053055.5(THEM4):c.224G>A (p.Arg75His)	THEM4 (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548735	NM_053055.5(THEM4):c.212G>A (p.Gly71Asp)	THEM4 (G71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330023	NM_053055.5(THEM4):c.156C>G (p.Ser52Arg)	THEM4 (S52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256400	NM_053055.5(THEM4):c.139T>G (p.Ser47Ala)	THEM4 (S47A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177016	NM_053055.5(THEM4):c.119A>G (p.Glu40Gly)	THEM4 (E40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325886	NM_053055.5(THEM4):c.95A>T (p.Glu32Val)	LOC129931451, THEM4 (E32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378659	NM_053055.5(THEM4):c.85C>T (p.Pro29Ser)	LOC129931451, THEM4 (P29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322530	NM_053055.5(THEM4):c.82G>A (p.Glu28Lys)	LOC129931451, THEM4 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210474	NM_053055.5(THEM4):c.11G>C (p.Ser4Thr)	LOC129931451, THEM4 (S4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351245	NM_053055.5(THEM4):c.10A>G (p.Ser4Gly)	LOC129931451, THEM4 (S4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance