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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280878	NM_176818.3(GATC):c.62C>T (p.Thr21Ile)	GATC, LOC112163529 (T21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607371	NM_176818.3(GATC):c.123G>T (p.Glu41Asp)	GATC, LOC112163529 (E41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338380	NM_176818.3(GATC):c.125G>A (p.Arg42His)	GATC, LOC112163529 (R42H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280877	NM_176818.3(GATC):c.145G>A (p.Gly49Ser)	GATC, LOC112163529 (G49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098789	NM_176818.3(GATC):c.304G>C (p.Glu102Gln)	GATC (E102Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546119	NM_176818.3(GATC):c.356C>A (p.Pro119Gln)	GATC (P119Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368718	NM_003769.3(SRSF9):c.644T>A (p.Phe215Tyr)	GATC, SRSF9 (F215Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2570423	NM_003769.3(SRSF9):c.605G>A (p.Arg202His)	GATC, SRSF9 (R202H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3322766	NM_003769.3(SRSF9):c.562A>G (p.Thr188Ala)	GATC, SRSF9 (T188A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance