"Ambry Genetics"[submitter] AND "GDPD2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099285	NM_017711.4(GDPD2):c.7G>A (p.Glu3Lys)	GDPD2 (E3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099288	NM_017711.4(GDPD2):c.9G>T (p.Glu3Asp)	GDPD2 (E3D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315457	NM_017711.4(GDPD2):c.34G>A (p.Ala12Thr)	GDPD2 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205044	NM_017711.4(GDPD2):c.224G>A (p.Arg75His)	GDPD2 (R75H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2393053	NM_017711.4(GDPD2):c.228G>C (p.Trp76Cys)	GDPD2 (W76C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366647	NM_017711.4(GDPD2):c.323G>A (p.Arg108Gln)	GDPD2 (R29Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309755	NM_017711.4(GDPD2):c.391G>A (p.Val131Met)	GDPD2 (V131M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281163	NM_017711.4(GDPD2):c.448C>T (p.Arg150Cys)	GDPD2 (R150C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488454	NM_017711.4(GDPD2):c.508C>A (p.Leu170Ile)	GDPD2 (L170I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549624	NM_017711.4(GDPD2):c.733C>T (p.Arg245Trp)	GDPD2 (R166W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099286	NM_017711.4(GDPD2):c.822C>G (p.His274Gln)	GDPD2 (H195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099287	NM_017711.4(GDPD2):c.996T>A (p.Ser332Arg)	GDPD2, LOC105373244 (S332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099284	NM_017711.4(GDPD2):c.1001C>T (p.Thr334Met)	GDPD2, LOC105373244 (T255M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551266	NM_017711.4(GDPD2):c.1070G>A (p.Arg357His)	GDPD2, LOC105373244 (R278H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300254	NM_017711.4(GDPD2):c.1217G>A (p.Arg406His)	GDPD2, LOC105373244 (R327H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475673	NM_017711.4(GDPD2):c.1307+976C>T	GDPD2, LOC105373244 (S458L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2228492	NM_017711.4(GDPD2):c.1307+1020C>G	GDPD2, LOC105373244 (P473A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance