ClinVar for Gene (Select 911) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3487896	NM_001765.3(CD1C):c.128G>A (p.Arg43Gln)	CD1B, CD1C (R43Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3487895	NM_001765.3(CD1C):c.676C>T (p.His226Tyr)	CD1B, CD1C (H226Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3487894	NM_001765.3(CD1C):c.212G>T (p.Trp71Leu)	CD1B, CD1C (W71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3487893	NM_001765.3(CD1C):c.699G>T (p.Lys233Asn)	CD1B, CD1C (K233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3390021	NM_001765.3(CD1C):c.567C>T (p.Leu189=)	CD1C, CD1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3264755	NM_001765.3(CD1C):c.994A>G (p.Ile332Val)	CD1B, CD1C (I332V)	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 3140391	NM_001765.3(CD1C):c.763C>T (p.Leu255Phe)	CD1B, CD1C (L255F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140389	NM_001765.3(CD1C):c.602A>G (p.His201Arg)	CD1B, CD1C (H201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140388	NM_001765.3(CD1C):c.455C>T (p.Ser152Phe)	CD1B, CD1C (S152F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140387	NM_001765.3(CD1C):c.451C>T (p.Pro151Ser)	CD1B, CD1C (P151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140386	NM_001765.3(CD1C):c.422T>C (p.Leu141Ser)	CD1B, CD1C (L141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2547350	NM_001765.3(CD1C):c.16T>C (p.Phe6Leu)	CD1B, CD1C (F6L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522979	NM_001765.3(CD1C):c.65C>T (p.Ser22Phe)	CD1B, CD1C (S22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520411	NM_001765.3(CD1C):c.860T>G (p.Leu287Arg)	CD1B, CD1C (L287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476655	NM_001765.3(CD1C):c.589A>G (p.Lys197Glu)	CD1B, CD1C (K197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459918	NM_001765.3(CD1C):c.830G>A (p.Gly277Asp)	CD1B, CD1C (G277D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454756	NM_001765.3(CD1C):c.950T>C (p.Ile317Thr)	CD1B, CD1C (I317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406250	NM_001765.3(CD1C):c.353C>T (p.Ala118Val)	CD1B, CD1C (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403716	NM_001765.3(CD1C):c.320A>T (p.Tyr107Phe)	CD1B, CD1C (Y107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383170	NM_001765.3(CD1C):c.323C>T (p.Ser108Leu)	CD1B, CD1C (S108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373503	NM_001765.3(CD1C):c.944T>C (p.Ile315Thr)	CD1B, CD1C (I315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361268	NM_001765.3(CD1C):c.820G>A (p.Glu274Lys)	CD1B, CD1C (E274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341268	NM_001765.3(CD1C):c.175G>C (p.Asp59His)	CD1B, CD1C (D59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311095	NM_001765.3(CD1C):c.970A>G (p.Lys324Glu)	CD1B, CD1C (K324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299844	NM_001765.3(CD1C):c.491A>G (p.His164Arg)	CD1B, CD1C (H164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274190	NM_001765.3(CD1C):c.866G>A (p.Gly289Asp)	CD1B, CD1C (G289D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268735	NM_001765.3(CD1C):c.478C>G (p.Gln160Glu)	CD1B, CD1C (Q160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217412	NM_001765.3(CD1C):c.701C>T (p.Pro234Leu)	CD1B, CD1C (P234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209950	NM_001765.3(CD1C):c.378G>T (p.Lys126Asn)	CD1B, CD1C (K126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206766	NM_001765.3(CD1C):c.685G>A (p.Gly229Ser)	CD1B, CD1C (G229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205114	NM_001765.3(CD1C):c.800T>C (p.Ile267Thr)	CD1B, CD1C (I267T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 785845	NM_001765.3(CD1C):c.69G>A (p.Gln23=)	CD1B, CD1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773640	NM_001765.3(CD1C):c.899T>C (p.Phe300Ser)	CD1B, CD1C (F300S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732731	NM_001765.3(CD1C):c.844G>T (p.Val282Leu)	CD1B, CD1C (V282L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716049	NM_001765.3(CD1C):c.954C>A (p.Val318=)	CD1B, CD1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709334	NM_001765.3(CD1C):c.848G>C (p.Arg283Thr)	CD1B, CD1C (R283T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	ABL2, ACKR1 +1586 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	LOC126805903, LOC126805904 +776 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46