C2CD4D[gene] - ClinVar

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Items: 42

	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 2456053	NM_001394591.1(C2CD4D):c.1055G>T (p.Ser352Ile)	C2CD4D (S352I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320516	NM_001394591.1(C2CD4D):c.1034C>A (p.Ser345Tyr)	C2CD4D (S345Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262480	NM_001394591.1(C2CD4D):c.1000C>T (p.Pro334Ser)	C2CD4D (P334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135911	NM_001394591.1(C2CD4D):c.968G>C (p.Gly323Ala)	C2CD4D (G323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135910	NM_001394591.1(C2CD4D):c.902C>G (p.Ala301Gly)	C2CD4D (A301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262479	NM_001394591.1(C2CD4D):c.860A>G (p.Asn287Ser)	C2CD4D (N287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135908	NM_001394591.1(C2CD4D):c.856T>G (p.Phe286Val)	C2CD4D (F286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533218	NM_001394591.1(C2CD4D):c.829G>A (p.Val277Met)	C2CD4D (V277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262483	NM_001394591.1(C2CD4D):c.751C>G (p.Pro251Ala)	C2CD4D (P251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492995	NM_001394591.1(C2CD4D):c.733C>T (p.Pro245Ser)	C2CD4D (P245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388950	NM_001394591.1(C2CD4D):c.649C>T (p.Arg217Cys)	C2CD4D, C2CD4D-AS1 (R217C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2536985	NM_001394591.1(C2CD4D):c.575C>T (p.Pro192Leu)	C2CD4D, C2CD4D-AS1 +1 more (P192L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531466	NM_001394591.1(C2CD4D):c.554G>A (p.Arg185His)	C2CD4D, C2CD4D-AS1 +1 more (R185H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3262482	NM_001394591.1(C2CD4D):c.553C>A (p.Arg185Ser)	C2CD4D, C2CD4D-AS1 +1 more (R185S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3262481	NM_001394591.1(C2CD4D):c.536C>G (p.Thr179Ser)	C2CD4D, C2CD4D-AS1 +1 more (T179S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319658	NM_001394591.1(C2CD4D):c.505C>G (p.Leu169Val)	C2CD4D, C2CD4D-AS1 +1 more (L169V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2411153	NM_001394591.1(C2CD4D):c.461C>A (p.Pro154Gln)	C2CD4D, C2CD4D-AS1 +1 more (P154Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379576	NM_001394591.1(C2CD4D):c.452T>C (p.Phe151Ser)	C2CD4D, C2CD4D-AS1 +1 more (F151S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591886	NM_001394591.1(C2CD4D):c.443C>T (p.Ser148Leu)	C2CD4D, C2CD4D-AS1 +1 more (S148L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135907	NM_001394591.1(C2CD4D):c.439G>A (p.Asp147Asn)	C2CD4D, C2CD4D-AS1 +1 more (D147N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2607591	NM_001394591.1(C2CD4D):c.350G>A (p.Gly117Glu)	C2CD4D, C2CD4D-AS1 (G117E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345417	NM_001394591.1(C2CD4D):c.346G>A (p.Gly116Arg)	C2CD4D, C2CD4D-AS1 (G116R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226021	NM_001394591.1(C2CD4D):c.329C>T (p.Pro110Leu)	C2CD4D, C2CD4D-AS1 (P110L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350472	NM_001394591.1(C2CD4D):c.314C>T (p.Ser105Phe)	C2CD4D, C2CD4D-AS1 +1 more (S105F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240142	NM_001394591.1(C2CD4D):c.232G>A (p.Ala78Thr)	C2CD4D, C2CD4D-AS1 +1 more (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319790	NM_001394591.1(C2CD4D):c.172C>T (p.Pro58Ser)	C2CD4D, C2CD4D-AS1 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469129	NM_001394591.1(C2CD4D):c.136G>A (p.Asp46Asn)	C2CD4D, C2CD4D-AS1 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135906	NM_001394591.1(C2CD4D):c.122A>G (p.Asn41Ser)	C2CD4D, C2CD4D-AS1 (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281873	NM_001394591.1(C2CD4D):c.91G>T (p.Ala31Ser)	C2CD4D, C2CD4D-AS1 (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135909	NM_001394591.1(C2CD4D):c.85C>T (p.Arg29Cys)	C2CD4D, C2CD4D-AS1 (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
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 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425291	NC_000001.10:g.(?_151801885)_(152287932_?)dup	C2CD4D, FLG +9 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814126	GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3	S100A11, FLG +9 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	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 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 42