2545[HGNC] - ClinVar

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Items: 21

	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 777937	NM_004079.5(CTSS):c.888G>T (p.Val296=)	CTSS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2225121	NM_004079.5(CTSS):c.727G>A (p.Ala243Thr)	CTSS (A193T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314453	NM_004079.5(CTSS):c.667A>G (p.Thr223Ala)	CTSS (T173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731670	NM_004079.5(CTSS):c.627+9T>A	CTSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2338368	NM_004079.5(CTSS):c.578T>C (p.Ile193Thr)	CTSS (I193T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620128	NM_004079.5(CTSS):c.534A>C (p.Lys178Asn)	CTSS (K128N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613626	NM_004079.5(CTSS):c.359A>C (p.Asp120Ala)	CTSS, LOC128772204 (D120A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613528	NM_004079.5(CTSS):c.338G>A (p.Arg113Gln)	CTSS, LOC128772204 (R113Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3078793	NM_004079.5(CTSS):c.7C>T (p.Arg3Trp)	CTSS (R3W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	SELENBP1, SEMA4A +228 more	Duplication	Kostmann syndrome +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 979298	GRCh37/hg19 1q21.3(chr1:150687807-150775422)x1	CTSK, HORMAD1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979297	GRCh37/hg19 1q21.3(chr1:150611086-150941270)x1	CTSK, SETDB1 +5 more	Copy number loss	not provided	GUncertain significance
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: 21