CMSS1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2325431	NM_032359.4(CMSS1):c.97G>C (p.Glu33Gln)	CMSS1 (E15Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599806	NM_032359.4(CMSS1):c.104T>A (p.Met35Lys)	CMSS1 (M17K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384508	NM_032359.4(CMSS1):c.252A>T (p.Lys84Asn)	CMSS1 (K66N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146251	NM_032359.4(CMSS1):c.256G>C (p.Glu86Gln)	CMSS1 (E86Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516809	NM_032359.4(CMSS1):c.319C>T (p.Arg107Cys)	CMSS1 (R107C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207804	NM_032359.4(CMSS1):c.320G>A (p.Arg107His)	CMSS1 (R107H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224587	NM_032359.4(CMSS1):c.361T>C (p.Cys121Arg)	CMSS1 (C121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544595	NM_032359.4(CMSS1):c.412G>C (p.Glu138Gln)	CMSS1 (E120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146253	NM_032359.4(CMSS1):c.610C>T (p.Arg204Cys)	CMSS1 (R186C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518758	NM_032359.4(CMSS1):c.623T>G (p.Leu208Arg)	CMSS1 (L208R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146254	NM_032359.4(CMSS1):c.684C>A (p.Ser228Arg)	CMSS1 (S210R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365181	NM_032359.4(CMSS1):c.748A>C (p.Ile250Leu)	CMSS1 (I232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146255	NM_032359.4(CMSS1):c.799A>C (p.Ser267Arg)	CMSS1 (S249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance