"Ambry Genetics"[submitter] AND "CD1A"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2302429	NM_001763.3(CD1A):c.163C>G (p.His55Asp)	CD1A (H44D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298214	NM_001763.3(CD1A):c.179A>G (p.Asn60Ser)	CD1A (N60S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204664	NM_001763.3(CD1A):c.193G>A (p.Val65Ile)	CD1A (V65I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140373	NM_001763.3(CD1A):c.235G>A (p.Glu79Lys)	CD1A (E68K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310834	NM_001763.3(CD1A):c.238T>C (p.Trp80Arg)	CD1A (W69R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264748	NM_001763.3(CD1A):c.252A>T (p.Glu84Asp)	CD1A (E84D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348169	NM_001763.3(CD1A):c.277C>T (p.Arg93Trp)	CD1A (R93W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377349	NM_001763.3(CD1A):c.304G>A (p.Ala102Thr)	CD1A (A102T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490371	NM_001763.3(CD1A):c.419T>C (p.Phe140Ser)	CD1A (F140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482365	NM_001763.3(CD1A):c.421G>C (p.Val141Leu)	CD1A (V141L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346964	NM_001763.3(CD1A):c.497A>G (p.Asn166Ser)	CD1A (N155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552217	NM_001763.3(CD1A):c.553C>T (p.Arg185Cys)	CD1A (R174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360688	NM_001763.3(CD1A):c.554G>A (p.Arg185His)	CD1A (R185H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337237	NM_001763.3(CD1A):c.599G>A (p.Arg200Gln)	CD1A (R200Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264747	NM_001763.3(CD1A):c.676T>G (p.Ser226Ala)	CD1A (S226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364655	NM_001763.3(CD1A):c.772G>A (p.Gly258Arg)	CD1A (G247R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264746	NM_001763.3(CD1A):c.787C>T (p.Arg263Cys)	CD1A (R252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250274	NM_001763.3(CD1A):c.836G>A (p.Arg279Gln)	CD1A (R268Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511750	NM_001763.3(CD1A):c.847A>G (p.Ser283Gly)	CD1A (S272G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140375	NM_001763.3(CD1A):c.871G>A (p.Val291Ile)	CD1A (V280I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264751	NM_001763.3(CD1A):c.892A>G (p.Ser298Gly)	CD1A (S298G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364330	NM_001763.3(CD1A):c.898G>A (p.Val300Met)	CD1A (V300M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2561868	NM_001763.3(CD1A):c.917C>T (p.Ala306Val)	CD1A (A295V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140376	NM_001763.3(CD1A):c.944T>C (p.Ile315Thr)	CD1A (I304T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264749	NM_001763.3(CD1A):c.975T>C (p.Cys325=)	CD1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25