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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101353	NM_002510.3(GPNMB):c.10C>T (p.Leu4Phe)	GPNMB (L4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101357	NM_002510.3(GPNMB):c.64G>T (p.Ala22Ser)	GPNMB (A22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282180	NM_002510.3(GPNMB):c.65C>A (p.Ala22Asp)	GPNMB (A22D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297273	NM_002510.3(GPNMB):c.176A>C (p.Tyr59Ser)	GPNMB (Y59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248652	NM_002510.3(GPNMB):c.191G>A (p.Arg64Gln)	GPNMB (R64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399241	NM_002510.3(GPNMB):c.257C>T (p.Ser86Leu)	GPNMB (S86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516619	NM_002510.3(GPNMB):c.430G>A (p.Gly144Arg)	GPNMB (G144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221385	NM_002510.3(GPNMB):c.469C>T (p.Pro157Ser)	GPNMB (P157S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461816	NM_002510.3(GPNMB):c.526G>A (p.Val176Ile)	GPNMB (V176I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778296	NM_002510.3(GPNMB):c.591C>T (p.Asn197=)	GPNMB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2218293	NM_002510.3(GPNMB):c.598A>G (p.Asn200Asp)	GPNMB (N200D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287962	NM_002510.3(GPNMB):c.619C>T (p.Leu207Phe)	GPNMB (L207F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320475	NM_002510.3(GPNMB):c.627A>T (p.Glu209Asp)	GPNMB (E209D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476269	NM_002510.3(GPNMB):c.628G>A (p.Val210Met)	GPNMB (V210M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465959	NM_002510.3(GPNMB):c.653G>C (p.Arg218Pro)	GPNMB (R218P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470515	NM_002510.3(GPNMB):c.686T>C (p.Val229Ala)	GPNMB (V229A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282179	NM_002510.3(GPNMB):c.691G>T (p.Val231Leu)	GPNMB (V231L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101358	NM_002510.3(GPNMB):c.734A>G (p.Lys245Arg)	GPNMB (K245R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370999	NM_002510.3(GPNMB):c.743G>A (p.Arg248Gln)	GPNMB (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458356	NM_002510.3(GPNMB):c.755A>G (p.Asp252Gly)	GPNMB (D252G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377958	NM_002510.3(GPNMB):c.778C>T (p.Pro260Ser)	GPNMB (P260S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101359	NM_002510.3(GPNMB):c.808C>T (p.Pro270Ser)	GPNMB (P270S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516706	NM_002510.3(GPNMB):c.820C>G (p.Leu274Val)	GPNMB (L274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350809	NM_002510.3(GPNMB):c.876T>G (p.Phe292Leu)	GPNMB (F292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492049	NM_002510.3(GPNMB):c.923C>A (p.Thr308Asn)	GPNMB (T308N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262791	NM_002510.3(GPNMB):c.989C>A (p.Pro330His)	GPNMB (P330H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298338	NM_002510.3(GPNMB):c.1070G>T (p.Cys357Phe)	GPNMB (C369F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232178	NM_002510.3(GPNMB):c.1193T>C (p.Ile398Thr)	GPNMB (I398T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387283	NM_002510.3(GPNMB):c.1204G>A (p.Val402Met)	GPNMB (V414M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356358	NM_002510.3(GPNMB):c.1229C>T (p.Thr410Met)	GPNMB (T422M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530256	NM_002510.3(GPNMB):c.1231G>A (p.Glu411Lys)	GPNMB (E423K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101354	NM_002510.3(GPNMB):c.1340A>G (p.Asn447Ser)	GPNMB (N447S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2516047	NM_002510.3(GPNMB):c.1474G>A (p.Val492Ile)	GPNMB (V492I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351792	NM_002510.3(GPNMB):c.1489A>G (p.Ile497Val)	GPNMB (I509V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404912	NM_002510.3(GPNMB):c.1507T>C (p.Ser503Pro)	GPNMB (S515P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374000	NM_002510.3(GPNMB):c.1508C>T (p.Ser503Phe)	GPNMB (S515F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101356	NM_002510.3(GPNMB):c.1538A>C (p.Tyr513Ser)	GPNMB (Y525S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608920	NM_002510.3(GPNMB):c.1561G>A (p.Gly521Arg)	GPNMB (G533R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245499	NM_002510.3(GPNMB):c.1574G>C (p.Arg525Thr)	GPNMB (R525T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389386	NM_002510.3(GPNMB):c.1604G>A (p.Arg535His)	GPNMB (R535H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477183	NM_002510.3(GPNMB):c.1615G>A (p.Val539Met)	GPNMB (V539M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41