10740[HGNC] - ClinVar

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

Search results

Items: 26

	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 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2378764	NM_030913.6(SEMA6C):c.2432C>T (p.Pro811Leu)	SEMA6C (P803L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250840	NM_030913.6(SEMA6C):c.2356C>T (p.Pro786Ser)	SEMA6C (P818S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349304	NM_030913.6(SEMA6C):c.2137C>T (p.Arg713Cys)	SEMA6C (R713C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372986	NM_030913.6(SEMA6C):c.2126T>C (p.Val709Ala)	SEMA6C (V701A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067221	NM_030913.6(SEMA6C):c.1922A>G (p.Glu641Gly)	SEMA6C (E633G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 767698	NM_030913.6(SEMA6C):c.1628G>C (p.Arg543Thr)	SEMA6C (R503T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717809	NM_030913.6(SEMA6C):c.1434-6C>T	SEMA6C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2374447	NM_030913.6(SEMA6C):c.1157G>A (p.Arg386Gln)	SEMA6C (R386Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767699	NM_030913.6(SEMA6C):c.974+7A>C	SEMA6C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2351079	NM_030913.6(SEMA6C):c.790C>T (p.Arg264Cys)	SEMA6C (R224C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639168	NM_030913.6(SEMA6C):c.619C>T (p.Pro207Ser)	SEMA6C (P207S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2355228	NM_030913.6(SEMA6C):c.575C>T (p.Ala192Val)	SEMA6C (A192V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247756	NM_030913.6(SEMA6C):c.274G>C (p.Gly92Arg)	SEMA6C (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770327	NM_030913.6(SEMA6C):c.91C>T (p.Leu31Phe)	SEMA6C (L31F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ANXA9, GPATCH4 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor 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 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 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 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

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: 26