ClinVar for Gene (Select 26103) - ClinVar

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

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2603907	NM_015613.3(LRIT1):c.442G>T (p.Ala148Ser)	LRIT1 (A148S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602253	NM_015613.3(LRIT1):c.101T>G (p.Met34Arg)	LRIT1 (M34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597201	NM_015613.3(LRIT1):c.1447G>A (p.Val483Met)	LRIT1 (V483M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587995	NM_015613.3(LRIT1):c.535G>A (p.Ala179Thr)	LRIT1 (A179T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2554338	NM_015613.3(LRIT1):c.981C>G (p.Ile327Met)	LRIT1 (I327M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548916	NM_015613.3(LRIT1):c.413T>C (p.Leu138Pro)	LRIT1 (L138P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540085	NM_015613.3(LRIT1):c.1450A>T (p.Thr484Ser)	LRIT1 (T484S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530779	NM_015613.3(LRIT1):c.86G>A (p.Cys29Tyr)	LRIT1 (C29Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526233	NM_015613.3(LRIT1):c.1445G>C (p.Arg482Thr)	LRIT1 (R482T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514565	NM_015613.3(LRIT1):c.114C>A (p.Ser38Arg)	LRIT1 (S38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514430	NM_015613.3(LRIT1):c.1145A>C (p.His382Pro)	LRIT1 (H382P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494914	NM_015613.3(LRIT1):c.1594G>T (p.Val532Leu)	LRIT1 (V532L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489144	NM_015613.3(LRIT1):c.821G>T (p.Arg274Leu)	LRIT1 (R274L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487896	NM_015613.3(LRIT1):c.1258G>A (p.Asp420Asn)	LRIT1 (D420N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478265	NM_015613.3(LRIT1):c.1249G>C (p.Glu417Gln)	LRIT1 (E417Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472282	NM_015613.3(LRIT1):c.1046C>T (p.Pro349Leu)	LRIT1 (P349L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427119	NC_000010.10:g.(?_85954517)_(86018395_?)dup	CDHR1, LRIT1 +2 more	Duplication	not provided	GUncertain significance
Select item 2408871	NM_015613.3(LRIT1):c.461T>G (p.Leu154Arg)	LRIT1 (L154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405803	NM_015613.3(LRIT1):c.941G>T (p.Gly314Val)	LRIT1 (G314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400350	NM_015613.3(LRIT1):c.1547A>G (p.Asn516Ser)	LRIT1 (N516S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397166	NM_015613.3(LRIT1):c.1414C>T (p.Arg472Trp)	LRIT1 (R472W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394668	NM_015613.3(LRIT1):c.1687G>T (p.Asp563Tyr)	LRIT1 (D563Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394519	NM_015613.3(LRIT1):c.368C>T (p.Pro123Leu)	LRIT1 (P123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392609	NM_015613.3(LRIT1):c.1609A>G (p.Ile537Val)	LRIT1 (I537V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2386536	NM_015613.3(LRIT1):c.367C>T (p.Pro123Ser)	LRIT1 (P123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372545	NM_015613.3(LRIT1):c.361G>A (p.Ala121Thr)	LRIT1 (A121T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371725	NM_015613.3(LRIT1):c.141C>G (p.Asp47Glu)	LRIT1 (D47E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365352	NM_015613.3(LRIT1):c.1840G>A (p.Gly614Arg)	LRIT1 (G614R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364920	NM_015613.3(LRIT1):c.1250A>G (p.Glu417Gly)	LRIT1 (E417G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359630	NM_015613.3(LRIT1):c.1168G>C (p.Ala390Pro)	LRIT1 (A390P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359545	NM_015613.3(LRIT1):c.1360A>G (p.Lys454Glu)	LRIT1 (K454E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343481	NM_015613.3(LRIT1):c.677T>C (p.Ile226Thr)	LRIT1 (I226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324154	NM_015613.3(LRIT1):c.1289T>C (p.Met430Thr)	LRIT1 (M430T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298719	NM_015613.3(LRIT1):c.707G>T (p.Arg236Leu)	LRIT1 (R236L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298420	NM_015613.3(LRIT1):c.530C>T (p.Ser177Phe)	LRIT1 (S177F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282177	NM_015613.3(LRIT1):c.664A>G (p.Asn222Asp)	LRIT1 (N222D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279840	NM_015613.3(LRIT1):c.1517G>A (p.Arg506Gln)	LRIT1 (R506Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269919	NM_015613.3(LRIT1):c.323G>C (p.Arg108Pro)	LRIT1 (R108P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256793	NM_015613.3(LRIT1):c.422A>G (p.Asn141Ser)	LRIT1 (N141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256157	NM_015613.3(LRIT1):c.215G>T (p.Arg72Leu)	LRIT1 (R72L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220798	NM_015613.3(LRIT1):c.178G>C (p.Asp60His)	LRIT1 (D60H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207031	NM_015613.3(LRIT1):c.329G>A (p.Arg110Gln)	LRIT1 (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206958	NM_015613.3(LRIT1):c.1743G>C (p.Glu581Asp)	LRIT1 (E581D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206667	NM_015613.3(LRIT1):c.423C>G (p.Asn141Lys)	LRIT1 (N141K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1711261	NM_015613.3(LRIT1):c.867G>A (p.Arg289=)	LRIT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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	C10orf99, CDHR1 +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	C10orf99, CDHR1 +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)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 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, ANXA8L1 +723 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	ADIRF, ADIRF-AS1 +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	LOC126860963, LOC126860964 +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	LOC132089876, LOC132090824 +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: 93