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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209355	NM_000930.5(PLAT):c.1633G>A (p.Val545Met)	PLAT (V456M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315130	NM_000930.5(PLAT):c.1628C>T (p.Pro543Leu)	PLAT (P454L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210705	NM_000930.5(PLAT):c.1571G>A (p.Arg524His)	PLAT (R524H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520910	NM_000930.5(PLAT):c.1564G>A (p.Asp522Asn)	PLAT (D433N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214299	NM_000930.5(PLAT):c.1379C>T (p.Ser460Leu)	PLAT (S371L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214298	NM_000930.5(PLAT):c.1348G>A (p.Gly450Ser)	PLAT (G361S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370239	NM_000930.5(PLAT):c.1328A>C (p.Glu443Ala)	PLAT (E354A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307272	NM_000930.5(PLAT):c.1325C>T (p.Thr442Met)	PLAT (T353M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214297	NM_000930.5(PLAT):c.1324A>G (p.Thr442Ala)	PLAT (T442A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307271	NM_000930.5(PLAT):c.1323G>T (p.Trp441Cys)	PLAT (W395C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616073	NM_000930.5(PLAT):c.1311G>C (p.Gln437His)	PLAT (Q391H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223836	NM_000930.5(PLAT):c.1301C>A (p.Ala434Glu)	PLAT (A345E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323771	NM_000930.5(PLAT):c.1266G>C (p.Glu422Asp)	PLAT (E333D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623662	NM_000930.5(PLAT):c.1253G>A (p.Arg418His)	PLAT (R329H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605179	NM_000930.5(PLAT):c.1214A>G (p.Asn405Ser)	PLAT (N316S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214295	NM_000930.5(PLAT):c.1150G>C (p.Glu384Gln)	PLAT (E295Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214294	NM_000930.5(PLAT):c.1118G>C (p.Gly373Ala)	PLAT (G373A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618572	NM_000930.5(PLAT):c.1093C>A (p.Pro365Thr)	PLAT (P319T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462402	NM_000930.5(PLAT):c.838G>A (p.Val280Met)	PLAT (V191M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307274	NM_000930.5(PLAT):c.784G>C (p.Gly262Arg)	LOC130000296, PLAT (G262R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307273	NM_000930.5(PLAT):c.734T>C (p.Ile245Thr)	LOC130000296, PLAT (I199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508315	NM_000930.5(PLAT):c.584C>T (p.Ala195Val)	PLAT (A149V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623330	NM_000930.5(PLAT):c.550C>G (p.Arg184Gly)	PLAT (R184G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3214301	NM_000930.5(PLAT):c.505A>G (p.Ile169Val)	PLAT (I123V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2535757	NM_000930.5(PLAT):c.491G>A (p.Arg164Gln)	PLAT (R164Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516050	NM_000930.5(PLAT):c.463G>A (p.Ala155Thr)	PLAT (A109T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224663	NM_000930.5(PLAT):c.425C>T (p.Ala142Val)	PLAT (A96V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214300	NM_000930.5(PLAT):c.319G>A (p.Val107Met)	PLAT (V107M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389697	NM_000930.5(PLAT):c.130G>A (p.Glu44Lys)	PLAT (E44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 29