3944[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 3096734	NM_005479.4(FRAT1):c.66G>C (p.Glu22Asp)	FRAT1, LOC121366075 (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096730	NM_005479.4(FRAT1):c.160G>A (p.Asp54Asn)	FRAT1 (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308271	NM_005479.4(FRAT1):c.179C>G (p.Pro60Arg)	FRAT1 (P60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614314	NM_005479.4(FRAT1):c.202G>A (p.Gly68Arg)	FRAT1 (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096731	NM_005479.4(FRAT1):c.224G>A (p.Gly75Glu)	FRAT1 (G75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279769	NM_005479.4(FRAT1):c.241G>A (p.Val81Met)	FRAT1 (V81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342452	NM_005479.4(FRAT1):c.245C>G (p.Pro82Arg)	FRAT1 (P82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096732	NM_005479.4(FRAT1):c.256G>A (p.Ala86Thr)	FRAT1 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096733	NM_005479.4(FRAT1):c.269C>A (p.Ala90Glu)	FRAT1 (A90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386882	NM_005479.4(FRAT1):c.322C>G (p.Pro108Ala)	FRAT1 (P108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212758	NM_005479.4(FRAT1):c.370C>T (p.Arg124Cys)	FRAT1 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279767	NM_005479.4(FRAT1):c.394G>C (p.Glu132Gln)	FRAT1 (E132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288810	NM_005479.4(FRAT1):c.521G>A (p.Arg174Gln)	FRAT1 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322625	NM_005479.4(FRAT1):c.544C>G (p.Leu182Val)	FRAT1 (L182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279768	NM_005479.4(FRAT1):c.734A>T (p.His245Leu)	FRAT1 (H245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478578	NM_005479.4(FRAT1):c.740C>A (p.Pro247His)	FRAT1 (P247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244447	NM_005479.4(FRAT1):c.775G>A (p.Asp259Asn)	FRAT1 (D259N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096735	NM_005479.4(FRAT1):c.814G>A (p.Asp272Asn)	FRAT1 (D272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293030	NM_005479.4(FRAT1):c.832G>C (p.Gly278Arg)	FRAT1 (G278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808078	GRCh37/hg19 10q24.1-24.2(chr10:99027360-99300723)x1	ARHGAP19, EXOSC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1527598	GRCh37/hg19 10q24.1-24.2(chr10:99070594-99445724)	ANKRD2, AVPI1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253819	GRCh37/hg19 10q24.1(chr10:98941691-99153357)x3	FRAT1, FRAT2 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 39