29503[HGNC] - ClinVar

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Items: 48

	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 3290308	NM_001346516.2(LCOR):c.118A>G (p.Thr40Ala)	LCOR (T40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290309	NM_001346516.2(LCOR):c.142A>G (p.Thr48Ala)	LCOR (T48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290310	NM_001346516.2(LCOR):c.152C>T (p.Pro51Leu)	LCOR (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300815	NM_001346516.2(LCOR):c.167T>C (p.Leu56Pro)	LCOR (L56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490576	NM_001346516.2(LCOR):c.290C>A (p.Ser97Tyr)	LCOR (S97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512613	NM_001346516.2(LCOR):c.332+2933C>T	LCOR (S170F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487404	NM_001346516.2(LCOR):c.332+2984T>C	LCOR (L187S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311553	NM_001346516.2(LCOR):c.332+3098C>T	LCOR (A225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538053	NM_001346516.2(LCOR):c.332+3134C>G	LCOR (A237G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348608	NM_001346516.2(LCOR):c.332+3263T>C	LCOR (M280T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463756	NM_001346516.2(LCOR):c.332+3275C>T	LCOR (T284M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118144	NM_001346516.2(LCOR):c.332+3292A>C	LCOR (K290Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464254	NM_001346516.2(LCOR):c.332+3331A>G	LCOR (S303G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118145	NM_001346516.2(LCOR):c.332+3341A>G	LCOR (D306G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331424	NM_001346516.2(LCOR):c.332+3380C>T	LCOR (S319F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318394	NM_001346516.2(LCOR):c.332+3422A>G	LCOR (D333G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269262	NM_001346516.2(LCOR):c.332+3655G>A	LCOR (V411I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118143	NM_001346516.2(LCOR):c.332+3692C>G	LCOR (A423G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253074	NM_001346516.2(LCOR):c.1438A>G (p.Thr480Ala)	C10orf12, LCOR (T480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260285	NM_001346516.2(LCOR):c.1783C>T (p.Pro595Ser)	C10orf12, LCOR (P595S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343685	NM_001346516.2(LCOR):c.2308A>G (p.Ile770Val)	C10orf12, LCOR (I770V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219346	NM_001346516.2(LCOR):c.2564G>A (p.Arg855His)	C10orf12, LCOR (R855H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2640730	NM_001346516.2(LCOR):c.2811T>G (p.Ala937=)	C10orf12, LCOR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211270	NM_001346516.2(LCOR):c.2912A>C (p.Asp971Ala)	C10orf12, LCOR (D971A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258538	NM_001346516.2(LCOR):c.3872A>G (p.Glu1291Gly)	C10orf12, LCOR (E1291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234530	NM_001346516.2(LCOR):c.3950G>A (p.Arg1317Gln)	C10orf12, LCOR (R1317Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238969	NM_001346516.2(LCOR):c.4171C>A (p.Pro1391Thr)	C10orf12, LCOR (P1391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231979	NM_001346516.2(LCOR):c.4244C>A (p.Pro1415His)	C10orf12, LCOR (P1415H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399096	NM_001346516.2(LCOR):c.4454C>T (p.Ser1485Phe)	C10orf12, LCOR (S1485F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240353	NM_001346516.2(LCOR):c.4547G>A (p.Ser1516Asn)	C10orf12, LCOR (S1516N)	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 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
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

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Items: 48