25311[HGNC] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103934	NM_001123375.3(H3C13):c.370G>A (p.Asp124Asn)	H3C13 (D124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103933	NM_001123375.3(H3C13):c.329T>A (p.Leu110Gln)	H3C13, LOC129931372 (L110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103932	NM_001123375.3(H3C13):c.262T>C (p.Ser88Pro)	H3C13, LOC129931372 (S88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588885	NM_001123375.3(H3C13):c.240G>C (p.Lys80Asn)	H3C13, LOC129931372 (K80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283357	NM_001123375.3(H3C13):c.230A>T (p.Gln77Leu)	H3C13, LOC129931372 (Q77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103931	NM_001123375.3(H3C13):c.209G>A (p.Arg70Gln)	H3C13, LOC129931372 (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791809	NM_001123375.3(H3C13):c.198G>A (p.Leu66=)	H3C13, LOC129931372	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719341	NM_001123375.3(H3C13):c.174T>C (p.Ser58=)	H3C13, LOC129931372	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3283358	NM_001123375.3(H3C13):c.116C>T (p.Pro39Leu)	H3C13, LOC129931372 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556495	NM_001123375.3(H3C13):c.67A>G (p.Thr23Ala)	H3C13, LOC129931372 (T23A)	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 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 442015	GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3	ACP6, ANKRD34A +42 more	Copy number gain	See cases	GLikely pathogenic
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
Select item 221417	GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3	H2AC19, H2AC20 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 21