4856[HGNC] - ClinVar

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Items: 34

	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 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 2380555	NM_004494.3(HDGF):c.709C>T (p.His237Tyr)	HDGF (H205Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104681	NM_004494.3(HDGF):c.646G>A (p.Glu216Lys)	HDGF (E184K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104680	NM_004494.3(HDGF):c.635A>G (p.Gln212Arg)	HDGF (Q205R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510891	NM_004494.3(HDGF):c.623G>A (p.Arg208Gln)	HDGF (R176Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210382	NM_004494.3(HDGF):c.622C>T (p.Arg208Trp)	HDGF (R176W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104679	NM_004494.3(HDGF):c.571C>T (p.Leu191Phe)	HDGF (L159F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590669	NM_004494.3(HDGF):c.569C>G (p.Pro190Arg)	HDGF (P190R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283722	NM_004494.3(HDGF):c.484C>A (p.Leu162Met)	HDGF (L155M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396518	NM_004494.3(HDGF):c.418G>T (p.Val140Phe)	HDGF (V108F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283724	NM_004494.3(HDGF):c.367G>C (p.Gly123Arg)	HDGF (G146R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104678	NM_004494.3(HDGF):c.323G>C (p.Cys108Ser)	HDGF (C108S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283723	NM_004494.3(HDGF):c.313A>C (p.Lys105Gln)	HDGF (K98Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236793	NM_004494.3(HDGF):c.299A>G (p.Tyr100Cys)	HDGF (Y100C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104677	NM_004494.3(HDGF):c.250G>A (p.Glu84Lys)	HDGF (E100K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241039	NM_004494.3(HDGF):c.129C>A (p.Asn43Lys)	HDGF (N43K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252744	NM_001126050.2(HDGF):c.132T>A (p.His44Gln)	HDGF (H44Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
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 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	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 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 1341236	GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1	CRABP2, HDGF +9 more	Copy number loss	not provided	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 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
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

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Items: 34