CD1A[gene] - ClinVar

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
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 785843	NM_001763.3(CD1A):c.268C>T (p.Arg90Cys)	CD1A (R79C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 785844	NM_001763.3(CD1A):c.605-3C>T	CD1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712089	NM_001763.3(CD1A):c.719G>A (p.Gly240Asp)	CD1A (G229D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809095	GRCh37/hg19 1q23.1(chr1:158167184-158427171)x3	CD1A, CD1B +4 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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: 33