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

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708211	NM_004077.3(CS):c.1388C>T (p.Ser463Phe)	CS (S463F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2547458	NM_004077.3(CS):c.1319G>A (p.Arg440Gln)	CS (R440Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326527	NM_004077.3(CS):c.1250T>G (p.Met417Arg)	CS (M417R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269717	NM_004077.3(CS):c.1137G>C (p.Gln379His)	CS (Q379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607426	NM_004077.3(CS):c.1121T>C (p.Phe374Ser)	CS (F374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210263	NM_004077.3(CS):c.1019G>A (p.Arg340Gln)	CS (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077944	NM_004077.3(CS):c.971C>T (p.Ser324Leu)	CS (S324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777689	NM_004077.3(CS):c.769C>T (p.Leu257=)	CS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077942	NM_004077.3(CS):c.653G>A (p.Arg218Gln)	CS (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569259	NM_004077.3(CS):c.578A>C (p.Lys193Thr)	CS (K193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266604	NM_004077.3(CS):c.572G>A (p.Arg191Gln)	CS (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077941	NM_004077.3(CS):c.527A>G (p.Asn176Ser)	CS (N176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728964	NM_004077.3(CS):c.288T>C (p.Phe96=)	CS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077940	NM_004077.3(CS):c.274C>T (p.Arg92Cys)	CS (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077938	NM_004077.3(CS):c.215T>C (p.Met72Thr)	CS (M72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077937	NM_004077.3(CS):c.204G>A (p.Met68Ile)	CS (M68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207569	NM_004077.3(CS):c.184C>G (p.Gln62Glu)	CS (Q62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737271	NM_004077.3(CS):c.174G>A (p.Thr58=)	CS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign