CD1D[gene] - ClinVar

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Items: 32

	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 2394938	NM_001371762.2(CD1D):c.32C>A (p.Ala11Glu)	CD1D (A11E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140396	NM_001371762.2(CD1D):c.37C>T (p.Leu13Phe)	CD1D (L13F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260709	NM_001371762.2(CD1D):c.65C>G (p.Pro22Arg)	CD1D (P22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724721	NM_001371762.2(CD1D):c.145T>C (p.Trp49Arg)	CD1D (W49R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2321744	NM_001371762.2(CD1D):c.185C>T (p.Ser62Leu)	CD1D (S62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775613	NM_001371762.2(CD1D):c.190A>T (p.Thr64Ser)	CD1D (T64S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3140393	NM_001371762.2(CD1D):c.235C>A (p.Gln79Lys)	CD1D (Q79K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344222	NM_001371762.2(CD1D):c.322T>G (p.Leu108Val)	CD1D (L108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140394	NM_001371762.2(CD1D):c.335T>C (p.Leu112Ser)	CD1D (L8S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359764	NM_001371762.2(CD1D):c.352G>T (p.Ala118Ser)	CD1D (A118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140395	NM_001371762.2(CD1D):c.370C>T (p.Pro124Ser)	CD1D (P124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264758	NM_001371762.2(CD1D):c.385A>G (p.Asn129Asp)	CD1D (N129D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140397	NM_001371762.2(CD1D):c.394T>C (p.Phe132Leu)	CD1D (F28L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264757	NM_001371762.2(CD1D):c.442T>G (p.Ser148Ala)	CD1D (S148A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269456	NM_001371762.2(CD1D):c.554C>T (p.Pro185Leu)	CD1D (P185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601846	NM_001371762.2(CD1D):c.571C>T (p.Leu191Phe)	CD1D (L191F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140398	NM_001371762.2(CD1D):c.590C>T (p.Ser197Leu)	CD1D (S197L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614404	NM_001371762.2(CD1D):c.692C>T (p.Pro231Leu)	CD1D (P231L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264756	NM_001371762.2(CD1D):c.779C>T (p.Thr260Ile)	CD1D (T260I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140399	NM_001371762.2(CD1D):c.946C>T (p.Leu316Phe)	CD1D (L212F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227207	NM_001371762.2(CD1D):c.965C>T (p.Thr322Ile)	CD1D (T218I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140400	NM_001371762.2(CD1D):c.994C>G (p.Gln332Glu)	CD1D (Q239E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224016	NM_001371762.2(CD1D):c.1000G>T (p.Val334Phe)	CD1D (V241F +2 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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 32