"Ambry Genetics"[submitter] AND "GDPD3"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2366969	NM_024307.3(GDPD3):c.913C>T (p.Arg305Trp)	GDPD3, YPEL3-DT (R247W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2561319	NM_024307.3(GDPD3):c.893C>T (p.Thr298Met)	GDPD3, YPEL3-DT (T298M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3099296	NM_024307.3(GDPD3):c.820G>A (p.Val274Met)	GDPD3, YPEL3-DT (V216M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2388717	NM_024307.3(GDPD3):c.811G>A (p.Gly271Arg)	GDPD3 (G213R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485302	NM_024307.3(GDPD3):c.806A>C (p.Glu269Ala)	GDPD3 (E269A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454813	NM_024307.3(GDPD3):c.757G>C (p.Val253Leu)	GDPD3 (V195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099294	NM_024307.3(GDPD3):c.728G>A (p.Cys243Tyr)	GDPD3 (C243Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281164	NM_024307.3(GDPD3):c.725C>T (p.Ser242Phe)	GDPD3 (S242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277706	NM_024307.3(GDPD3):c.625C>T (p.Leu209Phe)	GDPD3 (L151F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492363	NM_024307.3(GDPD3):c.619G>T (p.Val207Leu)	GDPD3 (V149L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376380	NM_024307.3(GDPD3):c.580G>A (p.Glu194Lys)	GDPD3 (E136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281165	NM_024307.3(GDPD3):c.557A>C (p.Lys186Thr)	GDPD3 (K186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206754	NM_024307.3(GDPD3):c.511C>T (p.Arg171Cys)	GDPD3 (R113C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365025	NM_024307.3(GDPD3):c.503G>A (p.Arg168His)	GDPD3 (R110H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618765	NM_024307.3(GDPD3):c.490G>A (p.Gly164Ser)	GDPD3 (G164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099292	NM_024307.3(GDPD3):c.466G>A (p.Glu156Lys)	GDPD3 (E98K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099291	NM_024307.3(GDPD3):c.462G>C (p.Lys154Asn)	GDPD3 (K154N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514022	NM_024307.3(GDPD3):c.392G>A (p.Arg131His)	GDPD3 (R73H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370851	NM_024307.3(GDPD3):c.391C>T (p.Arg131Cys)	GDPD3 (R131C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372298	NM_024307.3(GDPD3):c.275G>A (p.Arg92His)	GDPD3 (R34H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099290	NM_024307.3(GDPD3):c.205C>A (p.Leu69Ile)	GDPD3 (L11I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099289	NM_024307.3(GDPD3):c.118C>T (p.Arg40Cys)	GDPD3 (R40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377832	NM_024307.3(GDPD3):c.74G>A (p.Arg25Gln)	GDPD3 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258466	NM_024307.3(GDPD3):c.16T>C (p.Tyr6His)	GDPD3 (Y6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24