"Ambry Genetics"[submitter] AND "SMOC1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2515488	NM_001034852.3(SMOC1):c.18C>G (p.Cys6Trp)	SMOC1 (C6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166608	NM_001034852.3(SMOC1):c.32C>T (p.Thr11Met)	SMOC1 (T11M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166607	NM_001034852.3(SMOC1):c.132C>A (p.Asn44Lys)	SMOC1 (N44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436984	NM_001034852.3(SMOC1):c.190G>A (p.Glu64Lys)	SMOC1 (E64K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269215	NM_001034852.3(SMOC1):c.248A>G (p.His83Arg)	SMOC1 (H83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254102	NM_001034852.3(SMOC1):c.251G>A (p.Arg84Gln)	SMOC1 (R84Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257225	NM_001034852.3(SMOC1):c.296G>A (p.Arg99Gln)	SMOC1 (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295789	NM_001034852.3(SMOC1):c.346C>T (p.Pro116Ser)	SMOC1 (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166610	NM_001034852.3(SMOC1):c.355G>A (p.Gly119Ser)	SMOC1 (G119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3320998	NM_001034852.3(SMOC1):c.376C>G (p.Gln126Glu)	SMOC1 (Q126E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166611	NM_001034852.3(SMOC1):c.436A>G (p.Ile146Val)	SMOC1 (I146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1960198	NM_001034852.3(SMOC1):c.479G>C (p.Gly160Ala)	SMOC1 (G160A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3166612	NM_001034852.3(SMOC1):c.490G>C (p.Asp164His)	SMOC1 (D164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320999	NM_001034852.3(SMOC1):c.547C>T (p.Pro183Ser)	SMOC1 (P183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166613	NM_001034852.3(SMOC1):c.576T>A (p.Asp192Glu)	SMOC1 (D192E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284672	NM_001034852.3(SMOC1):c.635A>G (p.Lys212Arg)	SMOC1 (K212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496051	NM_001034852.3(SMOC1):c.728G>A (p.Arg243His)	LOC126861980, SMOC1 (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269216	NM_001034852.3(SMOC1):c.809G>A (p.Trp270Ter)	LOC126861980, SMOC1 (W270*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2480172	NM_001034852.3(SMOC1):c.835C>T (p.Pro279Ser)	LOC126861980, SMOC1 (P279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166614	NM_001034852.3(SMOC1):c.858C>T (p.Arg286=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2333422	NM_001034852.3(SMOC1):c.905A>G (p.Glu302Gly)	LOC126861980, SMOC1 (E302G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546972	NM_001034852.3(SMOC1):c.917C>G (p.Pro306Arg)	LOC126861980, SMOC1 (P306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484504	NM_001034852.3(SMOC1):c.932A>T (p.Glu311Val)	LOC126861980, SMOC1 (E311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 594032	NM_001034852.3(SMOC1):c.1047G>T (p.Arg349Ser)	SMOC1 (R349S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2514316	NM_001034852.3(SMOC1):c.1165C>T (p.Arg389Cys)	SMOC1 (R389C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272396	NM_001034852.3(SMOC1):c.1239C>A (p.Asp413Glu)	SMOC1 (D413E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554984	NM_001034852.3(SMOC1):c.1303G>A (p.Val435Ile)	SMOC1 (V434I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 27