"Ambry Genetics"[submitter] AND "ANKRD45"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2210548	NM_198493.3(ANKRD45):c.434G>A (p.Arg145Lys)	ANKRD45 (R145K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396306	NM_198493.3(ANKRD45):c.412G>A (p.Ala138Thr)	ANKRD45 (A138T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478191	NM_198493.3(ANKRD45):c.367T>G (p.Leu123Val)	ANKRD45 (L123V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542047	NM_198493.3(ANKRD45):c.230G>T (p.Gly77Val)	ANKRD45 (G77V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403488	NM_198493.3(ANKRD45):c.148G>C (p.Gly50Arg)	ANKRD45 (G50R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460242	NM_198493.3(ANKRD45):c.30G>C (p.Glu10Asp)	ANKRD45 (E10D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339024	NM_198493.3(ANKRD45):c.26C>T (p.Ser9Leu)	ANKRD45 (S9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar