SEMA6C[gene] - ClinVar

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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	YY1AP1, CRCT1 +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 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 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

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Items: 26