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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2457147	NM_005014.3(OMD):c.1073A>G (p.His358Arg)	CENPP, OMD (H358R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372823	NM_005014.3(OMD):c.1068T>A (p.His356Gln)	OMD, CENPP (H356Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488778	NM_005014.3(OMD):c.1057T>A (p.Cys353Ser)	CENPP, OMD (C353S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209904	NM_005014.3(OMD):c.827T>C (p.Ile276Thr)	CENPP, OMD (I276T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284408	NM_005014.3(OMD):c.737C>A (p.Ser246Tyr)	CENPP, OMD (S246Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517621	NM_005014.3(OMD):c.719T>C (p.Leu240Ser)	CENPP, OMD (L240S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595302	NM_005014.3(OMD):c.707T>G (p.Met236Arg)	CENPP, OMD (M236R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558778	NM_005014.3(OMD):c.602C>T (p.Ser201Phe)	CENPP, OMD (S201F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336647	NM_005014.3(OMD):c.571C>T (p.Leu191Phe)	CENPP, OMD (L191F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617562	NM_005014.3(OMD):c.395T>C (p.Ile132Thr)	CENPP, OMD (I132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261881	NM_005014.3(OMD):c.286C>T (p.Leu96Phe)	CENPP, OMD (L96F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356123	NM_005014.3(OMD):c.269C>T (p.Pro90Leu)	CENPP, OMD (P90L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265188	NM_005014.3(OMD):c.214T>C (p.Phe72Leu)	CENPP, OMD (F72L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance