CDS1[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039410	NM_001263.4(CDS1):c.-8A>G	CDS1	Single nucleotide variant (5 prime UTR variant)	CDS1-related disorder	GLikely benign
Select item 3265615	NM_001263.4(CDS1):c.19C>T (p.Arg7Trp)	CDS1 (R7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141730	NM_001263.4(CDS1):c.20G>A (p.Arg7Gln)	CDS1 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141733	NM_001263.4(CDS1):c.53C>G (p.Ser18Trp)	CDS1 (S18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548403	NM_001263.4(CDS1):c.56C>T (p.Pro19Leu)	CDS1 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041961	NM_001263.4(CDS1):c.143G>C (p.Gly48Ala)	CDS1 (G48A)	Single nucleotide variant (missense variant)	CDS1-related disorder	GLikely benign
Select item 2533610	NM_001263.4(CDS1):c.164A>G (p.Asp55Gly)	CDS1 (D55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351910	NM_001263.4(CDS1):c.188C>T (p.Pro63Leu)	CDS1 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218424	NM_001263.4(CDS1):c.310A>G (p.Ile104Val)	CDS1 (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141731	NM_001263.4(CDS1):c.352A>G (p.Ile118Val)	CDS1 (I118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141732	NM_001263.4(CDS1):c.370C>A (p.His124Asn)	CDS1 (H124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457198	NM_001263.4(CDS1):c.419C>T (p.Pro140Leu)	CDS1 (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397363	NM_001263.4(CDS1):c.704T>C (p.Leu235Pro)	CDS1 (L235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049585	NM_001263.4(CDS1):c.723-9T>A	CDS1	Single nucleotide variant (intron variant)	CDS1-related disorder	GBenign
Select item 3043841	NM_001263.4(CDS1):c.723-4dup	CDS1	Duplication (intron variant)	CDS1-related disorder	GLikely benign
Select item 775994	NM_001263.4(CDS1):c.723-8A>T	CDS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3051171	NM_001263.4(CDS1):c.811-5_811-3dup	CDS1	Duplication (intron variant)	CDS1-related disorder	GLikely benign
Select item 3043745	NM_001263.4(CDS1):c.951C>T (p.Phe317=)	CDS1	Single nucleotide variant (synonymous variant)	CDS1-related disorder	GBenign
Select item 2347977	NM_001263.4(CDS1):c.1006C>G (p.Pro336Ala)	CDS1 (P336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211296	NM_001263.4(CDS1):c.1066A>G (p.Ser356Gly)	CDS1 (S356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530840	NM_001263.4(CDS1):c.1190T>C (p.Met397Thr)	CDS1 (M397T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631602	NM_001263.4(CDS1):c.1219G>T (p.Ala407Ser)	CDS1 (A407S)	Single nucleotide variant (missense variant)	CDS1-related disorder	GUncertain significance
Select item 3050570	NM_001263.4(CDS1):c.1257-8A>G	CDS1	Single nucleotide variant (intron variant)	CDS1-related disorder	GLikely benign
Select item 3045809	NM_001263.4(CDS1):c.1271G>A (p.Ser424Asn)	CDS1 (S424N)	Single nucleotide variant (missense variant)	CDS1-related disorder	GBenign
Select item 3141729	NM_001263.4(CDS1):c.1284G>T (p.Gln428His)	CDS1 (Q428H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057394	NM_001263.4(CDS1):c.1303C>G (p.Pro435Ala)	CDS1 (P435A)	Single nucleotide variant (missense variant)	CDS1-related disorder	GLikely benign

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Items: 26