C16orf96[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2351932	NM_001145011.2(C16orf96):c.40G>A (p.Ala14Thr)	C16orf96 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646149	NM_001145011.2(C16orf96):c.93C>T (p.His31=)	C16orf96	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646150	NM_001145011.2(C16orf96):c.115A>G (p.Met39Val)	C16orf96 (M39V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646151	NM_001145011.2(C16orf96):c.243C>T (p.Phe81=)	C16orf96	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388915	NM_001145011.2(C16orf96):c.382C>T (p.Arg128Trp)	C16orf96 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233703	NM_001145011.2(C16orf96):c.638C>G (p.Pro213Arg)	C16orf96 (P213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210936	NM_001145011.2(C16orf96):c.646G>A (p.Glu216Lys)	C16orf96 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255414	NM_001145011.2(C16orf96):c.790G>A (p.Ala264Thr)	C16orf96 (A264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392052	NM_001145011.2(C16orf96):c.811G>A (p.Val271Ile)	C16orf96 (V271I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3025375	NM_001145011.2(C16orf96):c.870G>A (p.Pro290=)	C16orf96	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359833	NM_001145011.2(C16orf96):c.1061C>T (p.Pro354Leu)	C16orf96 (P354L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388777	NM_001145011.2(C16orf96):c.1183C>T (p.Leu395Phe)	C16orf96 (L395F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771013	NM_001145011.2(C16orf96):c.1450C>T (p.Arg484Cys)	C16orf96 (R484C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2384215	NM_001145011.2(C16orf96):c.1717G>A (p.Ala573Thr)	C16orf96 (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354171	NM_001145011.2(C16orf96):c.1972G>A (p.Gly658Ser)	C16orf96 (G658S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256908	NM_001145011.2(C16orf96):c.2369T>A (p.Ile790Asn)	C16orf96 (I790N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372413	NM_001145011.2(C16orf96):c.2482G>A (p.Val828Met)	C16orf96 (V828M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646152	NM_001145011.2(C16orf96):c.2578G>A (p.Asp860Asn)	C16orf96 (D860N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2412033	NM_001145011.2(C16orf96):c.2725C>T (p.Arg909Cys)	C16orf96 (R909C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246975	NM_001145011.2(C16orf96):c.2749C>T (p.Arg917Trp)	C16orf96 (R917W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398476	NM_001145011.2(C16orf96):c.2842G>A (p.Glu948Lys)	C16orf96 (E948K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646153	NM_001145011.2(C16orf96):c.2998G>A (p.Gly1000Arg)	C16orf96 (G1000R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2259669	NM_001145011.2(C16orf96):c.3245C>T (p.Ser1082Leu)	C16orf96 (S1082L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23