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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204297	NM_005014.3(OMD):c.1228G>A (p.Gly410Arg)	CENPP, OMD (G410R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204296	NM_005014.3(OMD):c.1102A>G (p.Thr368Ala)	CENPP, OMD (T368A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204295	NM_005014.3(OMD):c.1097G>A (p.Arg366Gln)	CENPP, OMD (R366Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457147	NM_005014.3(OMD):c.1073A>G (p.His358Arg)	CENPP, OMD (H358R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204294	NM_005014.3(OMD):c.1072C>T (p.His358Tyr)	CENPP, OMD (H358Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372823	NM_005014.3(OMD):c.1068T>A (p.His356Gln)	CENPP, OMD (H356Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488778	NM_005014.3(OMD):c.1057T>A (p.Cys353Ser)	CENPP, OMD (C353S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204293	NM_005014.3(OMD):c.1007G>A (p.Arg336His)	CENPP, OMD (R336H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204299	NM_005014.3(OMD):c.850G>C (p.Glu284Gln)	CENPP, OMD (E284Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204298	NM_005014.3(OMD):c.844A>G (p.Ile282Val)	CENPP, OMD (I282V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209904	NM_005014.3(OMD):c.827T>C (p.Ile276Thr)	CENPP, OMD (I276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284408	NM_005014.3(OMD):c.737C>A (p.Ser246Tyr)	CENPP, OMD (S246Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517621	NM_005014.3(OMD):c.719T>C (p.Leu240Ser)	CENPP, OMD (L240S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595302	NM_005014.3(OMD):c.707T>G (p.Met236Arg)	CENPP, OMD (M236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558778	NM_005014.3(OMD):c.602C>T (p.Ser201Phe)	CENPP, OMD (S201F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336647	NM_005014.3(OMD):c.571C>T (p.Leu191Phe)	CENPP, OMD (L191F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617562	NM_005014.3(OMD):c.395T>C (p.Ile132Thr)	CENPP, OMD (I132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261881	NM_005014.3(OMD):c.286C>T (p.Leu96Phe)	CENPP, OMD (L96F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356123	NM_005014.3(OMD):c.269C>T (p.Pro90Leu)	CENPP, OMD (P90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265188	NM_005014.3(OMD):c.214T>C (p.Phe72Leu)	CENPP, OMD (F72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20