Related gene-specific medical variations for Gene (Select 440087) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320911	NM_001013698.2(SMCO3):c.608A>C (p.Lys203Thr)	C12orf60, SMCO3 (K203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166444	NM_001013698.2(SMCO3):c.658G>C (p.Val220Leu)	C12orf60, SMCO3 (V220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166443	NM_001013698.2(SMCO3):c.655A>G (p.Thr219Ala)	C12orf60, SMCO3 (T219A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166442	NM_001013698.2(SMCO3):c.608A>G (p.Lys203Arg)	C12orf60, SMCO3 (K203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166441	NM_001013698.2(SMCO3):c.563T>C (p.Leu188Pro)	C12orf60, SMCO3 (L188P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166440	NM_001013698.2(SMCO3):c.533C>T (p.Ala178Val)	C12orf60, SMCO3 (A178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166439	NM_001013698.2(SMCO3):c.383C>G (p.Ala128Gly)	C12orf60, SMCO3 (A128G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166438	NM_001013698.2(SMCO3):c.370G>A (p.Ala124Thr)	C12orf60, SMCO3 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166437	NM_001013698.2(SMCO3):c.25C>T (p.Pro9Ser)	C12orf60, SMCO3 (P9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610429	NM_001013698.2(SMCO3):c.10A>G (p.Ser4Gly)	C12orf60, SMCO3 (S4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527063	NM_001013698.2(SMCO3):c.243G>C (p.Gln81His)	C12orf60, SMCO3 (Q81H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517180	NM_001013698.2(SMCO3):c.529C>T (p.Arg177Cys)	C12orf60, SMCO3 (R177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377075	NM_001013698.2(SMCO3):c.206T>C (p.Ile69Thr)	C12orf60, SMCO3 (I69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336056	NM_001013698.2(SMCO3):c.505G>C (p.Gly169Arg)	C12orf60, SMCO3 (G169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323563	NM_001013698.2(SMCO3):c.62T>C (p.Leu21Pro)	C12orf60, SMCO3 (L21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316117	NM_001013698.2(SMCO3):c.422C>A (p.Thr141Lys)	C12orf60, SMCO3 (T141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284355	NM_001013698.2(SMCO3):c.591G>T (p.Lys197Asn)	C12orf60, SMCO3 (K197N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233263	NM_001013698.2(SMCO3):c.335T>A (p.Ile112Lys)	C12orf60, SMCO3 (I112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225178	NM_001013698.2(SMCO3):c.351T>G (p.Ile117Met)	C12orf60, SMCO3 (I117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204052	NM_001013698.2(SMCO3):c.100G>A (p.Asp34Asn)	C12orf60, SMCO3 (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 20