"Ambry Genetics"[submitter] AND "TM2D2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2359277	NM_078473.3(TM2D2):c.439G>A (p.Gly147Arg)	TM2D2 (G104R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382722	NM_078473.3(TM2D2):c.383A>G (p.Glu128Gly)	TM2D2 (E128G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312111	NM_078473.3(TM2D2):c.376G>A (p.Gly126Arg)	TM2D2 (G126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178091	NM_078473.3(TM2D2):c.319G>A (p.Gly107Ser)	TM2D2 (G64S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178090	NM_078473.3(TM2D2):c.283G>A (p.Ala95Thr)	TM2D2 (A52T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314034	NM_078473.3(TM2D2):c.269T>C (p.Val90Ala)	TM2D2 (V47A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620668	NM_078473.3(TM2D2):c.214C>T (p.Leu72Phe)	TM2D2 (L72F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3178088	NM_078473.3(TM2D2):c.206C>T (p.Pro69Leu)	TM2D2 (P69L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2236923	NM_078473.3(TM2D2):c.179G>A (p.Ser60Asn)	TM2D2 (S60N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2381893	NM_078473.3(TM2D2):c.155C>T (p.Pro52Leu)	TM2D2 (P52L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2411350	NM_078473.3(TM2D2):c.148G>T (p.Ala50Ser)	TM2D2 (A50S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2228264	NM_078473.3(TM2D2):c.145G>C (p.Ala49Pro)	TM2D2 (A49P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2538340	NM_078473.3(TM2D2):c.130C>G (p.Leu44Val)	TM2D2 (L44V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2588772	NM_078473.3(TM2D2):c.67A>G (p.Asn23Asp)	TM2D2 (N23D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3178092	NM_078473.3(TM2D2):c.34C>T (p.Leu12Phe)	TM2D2 (L12F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3178089	NM_078473.3(TM2D2):c.23T>C (p.Val8Ala)	TM2D2 (V8A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance