GHITM[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 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 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 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 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 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 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	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 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 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 147427	GRCh38/hg38 10q23.1(chr10:83303800-84989052)x3	CCSER2, CDHR1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 153065	GRCh38/hg38 10q23.1(chr10:83412936-84584646)x3	CCSER2, CDHR1 +28 more	Copy number gain	See cases	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 3099728	NM_014394.3(GHITM):c.61T>G (p.Phe21Val)	GHITM (F21V)	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 2390663	NM_014394.3(GHITM):c.152T>C (p.Ile51Thr)	GHITM (I51T)	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 2302990	NM_014394.3(GHITM):c.164G>C (p.Arg55Pro)	GHITM (R55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2216191	NM_014394.3(GHITM):c.183A>C (p.Glu61Asp)	GHITM (E61D)	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 3099724	NM_014394.3(GHITM):c.271G>A (p.Val91Ile)	GHITM (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3281349	NM_014394.3(GHITM):c.337G>T (p.Ala113Ser)	GHITM (A113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2406492	NM_014394.3(GHITM):c.385A>G (p.Met129Val)	GHITM (M129V)	Single nucleotide variant (missense variant)	not provided +1 more	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 2356557	NM_014394.3(GHITM):c.443C>T (p.Thr148Met)	GHITM (T148M)	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 3099726	NM_014394.3(GHITM):c.563C>G (p.Pro188Arg)	GHITM (P188R)	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 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 2307000	NM_014394.3(GHITM):c.836C>T (p.Ala279Val)	GHITM (A279V)	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 2454647	NM_014394.3(GHITM):c.899A>G (p.Lys300Arg)	GHITM (K300R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3099729	NM_014394.3(GHITM):c.905C>A (p.Ala302Glu)	GHITM (A302E)	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 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

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Items: 72