ClinVar for Gene (Select 27069) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281352	NM_014394.3(GHITM):c.671G>T (p.Gly224Val)	GHITM (G224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281351	NM_014394.3(GHITM):c.835G>T (p.Ala279Ser)	GHITM (A279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281350	NM_014394.3(GHITM):c.902G>A (p.Arg301His)	GHITM (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281349	NM_014394.3(GHITM):c.337G>T (p.Ala113Ser)	GHITM (A113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099729	NM_014394.3(GHITM):c.905C>A (p.Ala302Glu)	GHITM (A302E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099728	NM_014394.3(GHITM):c.61T>G (p.Phe21Val)	GHITM (F21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099727	NM_014394.3(GHITM):c.607G>C (p.Val203Leu)	GHITM (V203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099726	NM_014394.3(GHITM):c.563C>G (p.Pro188Arg)	GHITM (P188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099725	NM_014394.3(GHITM):c.427A>G (p.Ile143Val)	GHITM (I143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099724	NM_014394.3(GHITM):c.271G>A (p.Val91Ile)	GHITM (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099723	NM_014394.3(GHITM):c.230T>C (p.Ile77Thr)	GHITM (I77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099722	NM_014394.3(GHITM):c.164G>A (p.Arg55His)	GHITM (R55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099721	NM_014394.3(GHITM):c.14G>A (p.Arg5Lys)	GHITM (R5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	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 2527247	NM_014394.3(GHITM):c.326C>G (p.Ala109Gly)	GHITM (A109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454647	NM_014394.3(GHITM):c.899A>G (p.Lys300Arg)	GHITM (K300R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409512	NM_014394.3(GHITM):c.173C>A (p.Thr58Asn)	GHITM (T58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406492	NM_014394.3(GHITM):c.385A>G (p.Met129Val)	GHITM (M129V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2390663	NM_014394.3(GHITM):c.152T>C (p.Ile51Thr)	GHITM (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356557	NM_014394.3(GHITM):c.443C>T (p.Thr148Met)	GHITM (T148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354269	NM_014394.3(GHITM):c.98C>T (p.Thr33Met)	GHITM (T33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343634	NM_014394.3(GHITM):c.838A>G (p.Met280Val)	GHITM (M280V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335279	NM_014394.3(GHITM):c.380C>T (p.Thr127Ile)	GHITM (T127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307000	NM_014394.3(GHITM):c.836C>T (p.Ala279Val)	GHITM (A279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302990	NM_014394.3(GHITM):c.164G>C (p.Arg55Pro)	GHITM (R55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228905	NM_014394.3(GHITM):c.529G>A (p.Val177Ile)	GHITM (V177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216191	NM_014394.3(GHITM):c.183A>C (p.Glu61Asp)	GHITM (E61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 833377	NC_000010.11:g.(?_84141501)_(84258639_?)del	CDHR1, GHITM +4 more	Deletion	not provided	GPathogenic
Select item 815365	GRCh37/hg19 10q23.1(chr10:85627838-86014221)x1	RGR, LRIT2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 685282	GRCh37/hg19 10q23.1(chr10:85030876-86392391)x3	CCSER2, CDHR1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 560152	Single allele	CCSER2, CDHR1 +5 more	Duplication	not provided	GUncertain significance
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 442930	GRCh37/hg19 10q23.1(chr10:83476233-86036350)x1	CDHR1, GHITM +5 more	Copy number loss	See cases	GUncertain significance
Select item 442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	ADIRF, ADIRF-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	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 441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 395199	GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1	ANXA11, BMPR1A +24 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 253994	GRCh37/hg19 10q23.1(chr10:85063556-86748808)x3	CCSER2, LRIT1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253881	GRCh37/hg19 10q23.1(chr10:85140044-86242493)x3	GHITM, C10orf99 +5 more	Copy number gain	See cases	GUncertain significance
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 153065	GRCh38/hg38 10q23.1(chr10:83412936-84584646)x3	CCSER2, CDHR1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147427	GRCh38/hg38 10q23.1(chr10:83303800-84989052)x3	CCSER2, CDHR1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 57890	GRCh38/hg38 10q23.1(chr10:82794503-84537954)x3	CCSER2, CDHR1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 72