"Ambry Genetics"[submitter] AND "LOC130007516"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091439	NM_153207.5(AEBP2):c.10G>T (p.Ala4Ser)	AEBP2, LOC130007516 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091461	NM_153207.5(AEBP2):c.19G>T (p.Asp7Tyr)	AEBP2, LOC130007516 (D7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317579	NM_153207.5(AEBP2):c.47G>C (p.Arg16Pro)	AEBP2, LOC130007516 (R16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547062	NM_153207.5(AEBP2):c.61C>T (p.Pro21Ser)	AEBP2, LOC130007516 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598934	NM_153207.5(AEBP2):c.64C>G (p.Pro22Ala)	AEBP2, LOC130007516 (P22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091499	NM_153207.5(AEBP2):c.68G>C (p.Gly23Ala)	AEBP2, LOC130007516 (G23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091514	NM_153207.5(AEBP2):c.97G>C (p.Ala33Pro)	AEBP2, LOC130007516 (A33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358793	NM_153207.5(AEBP2):c.106C>G (p.Pro36Ala)	AEBP2, LOC130007516 (P36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215694	NM_153207.5(AEBP2):c.112G>A (p.Glu38Lys)	AEBP2, LOC130007516 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance