11539[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 2280135	NM_006951.5(TAF5):c.13G>A (p.Ala5Thr)	LOC111875818, TAF5 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173543	NM_006951.5(TAF5):c.26C>T (p.Thr9Met)	LOC111875818, TAF5 (T9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466154	NM_006951.5(TAF5):c.215C>T (p.Ala72Val)	TAF5 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266504	NM_006951.5(TAF5):c.257C>T (p.Pro86Leu)	LOC130004634, TAF5 (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462546	NM_006951.5(TAF5):c.263C>T (p.Ala88Val)	LOC130004634, TAF5 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248198	NM_006951.5(TAF5):c.314G>A (p.Arg105Gln)	LOC130004634, TAF5 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324274	NM_006951.5(TAF5):c.377C>A (p.Ala126Glu)	LOC130004634, TAF5 (A126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558712	NM_006951.5(TAF5):c.418G>A (p.Gly140Ser)	LOC130004634, TAF5 (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173545	NM_006951.5(TAF5):c.428T>G (p.Val143Gly)	LOC130004634, TAF5 (V143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324272	NM_006951.5(TAF5):c.437C>T (p.Ala146Val)	LOC130004634, TAF5 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244407	NM_006951.5(TAF5):c.466C>T (p.Pro156Ser)	LOC130004634, TAF5 (P156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227787	NM_006951.5(TAF5):c.479C>T (p.Ala160Val)	LOC130004634, TAF5 (A160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375179	NM_006951.5(TAF5):c.550C>T (p.Pro184Ser)	LOC130004634, TAF5 (P184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173546	NM_006951.5(TAF5):c.847T>A (p.Ser283Thr)	TAF5 (S283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 818167	NM_006951.5(TAF5):c.1226G>A (p.Ser409Asn)	TAF5 (S409N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3173535	NM_006951.5(TAF5):c.1296G>C (p.Leu432Phe)	TAF5 (L432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708795	NM_006951.5(TAF5):c.1428G>C (p.Val476=)	TAF5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2238821	NM_006951.5(TAF5):c.1433T>A (p.Val478Asp)	TAF5 (V478D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206264	NM_006951.5(TAF5):c.1508A>G (p.Lys503Arg)	TAF5 (K503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173536	NM_006951.5(TAF5):c.1514G>A (p.Arg505His)	TAF5 (R505H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299706	NM_006951.5(TAF5):c.1517G>A (p.Ser506Asn)	TAF5 (S506N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275334	NM_006951.5(TAF5):c.1621G>C (p.Gly541Arg)	TAF5 (G541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173537	NM_006951.5(TAF5):c.1636G>C (p.Val546Leu)	TAF5 (V546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384563	NM_006951.5(TAF5):c.1637T>C (p.Val546Ala)	TAF5 (V546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480603	NM_006951.5(TAF5):c.1658C>T (p.Pro553Leu)	TAF5 (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318826	NM_006951.5(TAF5):c.1669T>C (p.Tyr557His)	TAF5 (Y557H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545059	NM_006951.5(TAF5):c.1898C>T (p.Thr633Ile)	TAF5 (T578I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173538	NM_006951.5(TAF5):c.1940C>T (p.Ala647Val)	TAF5 (A592V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315893	NM_006951.5(TAF5):c.1940C>G (p.Ala647Gly)	TAF5 (A592G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173539	NM_006951.5(TAF5):c.1966G>T (p.Val656Phe)	TAF5 (V656F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173540	NM_006951.5(TAF5):c.1976G>T (p.Gly659Val)	TAF5 (G604V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592787	NM_006951.5(TAF5):c.2019T>A (p.His673Gln)	TAF5 (H673Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324273	NM_006951.5(TAF5):c.2137A>G (p.Thr713Ala)	TAF5 (T658A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476486	NM_006951.5(TAF5):c.2138C>T (p.Thr713Ile)	TAF5 (T658I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173541	NM_006951.5(TAF5):c.2207G>A (p.Arg736Gln)	TAF5 (R681Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173542	NM_006951.5(TAF5):c.2258C>A (p.Thr753Asn)	TAF5 (T698N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1808168	GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3	ATP5MK, CALHM1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527600	GRCh37/hg19 10q24.33(chr10:105064606-105508469)	ATP5MK, CALHM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 979289	GRCh37/hg19 10q24.32-24.33(chr10:104883845-105482700)x3	CALHM1, SH3PXD2A +9 more	Copy number gain	not provided	GUncertain significance
Select item 815375	GRCh37/hg19 10q24.33(chr10:104915576-105241844)x3	PDCD11, CALHM2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688068	GRCh37/hg19 10q24.33(chr10:104915309-105332773)x3	ATP5MK, CALHM1 +8 more	Copy number gain	not provided	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 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
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 394507	GRCh37/hg19 10q24.32-24.33(chr10:104853173-105357653)x4	ATP5MK, CALHM1 +9 more	Copy number gain	See cases	GUncertain significance
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 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 62