ClinVar for Gene (Select 284486) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177019	NM_182578.4(THEM5):c.343A>T (p.Ile115Phe)	C2CD4D-AS1, THEM5 (I115F)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2639182	NM_182578.4(THEM5):c.*89CCTGCCTGCCTCCTGCCTCC[1]	C2CD4D-AS1, THEM5	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2621394	NM_182578.4(THEM5):c.431T>C (p.Phe144Ser)	C2CD4D-AS1, THEM5 (F144S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2593940	NM_182578.4(THEM5):c.241G>A (p.Gly81Ser)	THEM5 (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2547699	NM_182578.4(THEM5):c.701G>A (p.Gly234Asp)	C2CD4D-AS1, THEM5 (G234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519433	NM_182578.4(THEM5):c.610G>A (p.Val204Ile)	C2CD4D-AS1, THEM5 (V204I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465668	NM_182578.4(THEM5):c.658G>A (p.Ala220Thr)	C2CD4D-AS1, THEM5 (A220T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2409179	NM_182578.4(THEM5):c.493A>G (p.Met165Val)	C2CD4D-AS1, THEM5 (M165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303142	NM_182578.4(THEM5):c.643T>G (p.Tyr215Asp)	C2CD4D-AS1, THEM5 (Y215D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277106	NM_182578.4(THEM5):c.719A>T (p.Gln240Leu)	C2CD4D-AS1, THEM5 (Q240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252895	NM_182578.4(THEM5):c.472C>T (p.His158Tyr)	C2CD4D-AS1, THEM5 (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236922	NM_182578.4(THEM5):c.475G>A (p.Gly159Ser)	C2CD4D-AS1, THEM5 (G159S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225819	NM_182578.4(THEM5):c.128C>T (p.Ser43Leu)	THEM5 (S43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216692	NM_182578.4(THEM5):c.329A>G (p.Lys110Arg)	C2CD4D-AS1, THEM5 (K110R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	APH1A, AQP10 +228 more	Duplication	MHC class II deficiency +3 more	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 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)	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
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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26