"Ambry Genetics"[submitter] AND "RBM7"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152462	NM_001286045.2(RBM7):c.16G>A (p.Ala6Thr)	RBM7 (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314371	NM_001286045.2(RBM7):c.32C>T (p.Thr11Ile)	RBM7 (T11I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152461	NM_001286045.2(RBM7):c.110T>C (p.Ile37Thr)	RBM7 (I37T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330307	NM_001286045.2(RBM7):c.140G>A (p.Gly47Asp)	RBM7 (G47D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349322	NM_001286045.2(RBM7):c.233G>A (p.Arg78Lys)	RBM7 (R78K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152464	NM_001286045.2(RBM7):c.369T>G (p.Asp123Glu)	RBM7 (D122E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152465	NM_001286045.2(RBM7):c.410C>T (p.Ser137Phe)	RBM7 (S137F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623164	NM_001286045.2(RBM7):c.463A>C (p.Met155Leu)	RBM7 (M154L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152466	NM_001286045.2(RBM7):c.548A>G (p.Asn183Ser)	RBM7 (N183S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284076	NM_001286045.2(RBM7):c.592C>G (p.Gln198Glu)	RBM7 (Q197E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548926	NM_001286045.2(RBM7):c.692G>A (p.Gly231Glu)	RBM7 (G110E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152467	NM_001286045.2(RBM7):c.718G>A (p.Asp240Asn)	RBM7 (D240N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance