ClinVar for Gene (Select 26103) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291343	NM_015613.3(LRIT1):c.101T>A (p.Met34Lys)	LRIT1 (M34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291342	NM_015613.3(LRIT1):c.1133T>C (p.Leu378Pro)	LRIT1 (L378P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291341	NM_015613.3(LRIT1):c.298G>A (p.Ala100Thr)	LRIT1 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291340	NM_015613.3(LRIT1):c.59G>T (p.Arg20Leu)	LRIT1 (R20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291339	NM_015613.3(LRIT1):c.710G>A (p.Ser237Asn)	LRIT1 (S237N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291338	NM_015613.3(LRIT1):c.872A>G (p.Asn291Ser)	LRIT1 (N291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120083	NM_015613.3(LRIT1):c.899A>G (p.His300Arg)	LRIT1 (H300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120082	NM_015613.3(LRIT1):c.850G>A (p.Glu284Lys)	LRIT1 (E284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120081	NM_015613.3(LRIT1):c.566G>T (p.Gly189Val)	LRIT1 (G189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120080	NM_015613.3(LRIT1):c.548C>A (p.Thr183Asn)	LRIT1 (T183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120079	NM_015613.3(LRIT1):c.41C>T (p.Ala14Val)	LRIT1 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120078	NM_015613.3(LRIT1):c.353G>T (p.Arg118Leu)	LRIT1 (R118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120077	NM_015613.3(LRIT1):c.311G>C (p.Arg104Pro)	LRIT1 (R104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120076	NM_015613.3(LRIT1):c.1765C>T (p.Arg589Trp)	LRIT1 (R589W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120075	NM_015613.3(LRIT1):c.1717A>G (p.Asn573Asp)	LRIT1 (N573D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120074	NM_015613.3(LRIT1):c.167C>G (p.Ser56Cys)	LRIT1 (S56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120073	NM_015613.3(LRIT1):c.1529G>A (p.Cys510Tyr)	LRIT1 (C510Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120072	NM_015613.3(LRIT1):c.1481A>C (p.Tyr494Ser)	LRIT1 (Y494S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120071	NM_015613.3(LRIT1):c.1377C>G (p.Phe459Leu)	LRIT1 (F459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120070	NM_015613.3(LRIT1):c.124A>G (p.Thr42Ala)	LRIT1 (T42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120069	NM_015613.3(LRIT1):c.110G>A (p.Gly37Asp)	LRIT1 (G37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120068	NM_015613.3(LRIT1):c.1029G>C (p.Leu343Phe)	LRIT1 (L343F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120067	NM_015613.3(LRIT1):c.101T>C (p.Met34Thr)	LRIT1 (M34T)	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 2603907	NM_015613.3(LRIT1):c.442G>T (p.Ala148Ser)	LRIT1 (A148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602253	NM_015613.3(LRIT1):c.101T>G (p.Met34Arg)	LRIT1 (M34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597201	NM_015613.3(LRIT1):c.1447G>A (p.Val483Met)	LRIT1 (V483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587995	NM_015613.3(LRIT1):c.535G>A (p.Ala179Thr)	LRIT1 (A179T)	Single nucleotide variant (missense variant)	not specified	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)	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 2554338	NM_015613.3(LRIT1):c.981C>G (p.Ile327Met)	LRIT1 (I327M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548916	NM_015613.3(LRIT1):c.413T>C (p.Leu138Pro)	LRIT1 (L138P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540085	NM_015613.3(LRIT1):c.1450A>T (p.Thr484Ser)	LRIT1 (T484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530779	NM_015613.3(LRIT1):c.86G>A (p.Cys29Tyr)	LRIT1 (C29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526233	NM_015613.3(LRIT1):c.1445G>C (p.Arg482Thr)	LRIT1 (R482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514565	NM_015613.3(LRIT1):c.114C>A (p.Ser38Arg)	LRIT1 (S38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514430	NM_015613.3(LRIT1):c.1145A>C (p.His382Pro)	LRIT1 (H382P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494914	NM_015613.3(LRIT1):c.1594G>T (p.Val532Leu)	LRIT1 (V532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489144	NM_015613.3(LRIT1):c.821G>T (p.Arg274Leu)	LRIT1 (R274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487896	NM_015613.3(LRIT1):c.1258G>A (p.Asp420Asn)	LRIT1 (D420N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478265	NM_015613.3(LRIT1):c.1249G>C (p.Glu417Gln)	LRIT1 (E417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472282	NM_015613.3(LRIT1):c.1046C>T (p.Pro349Leu)	LRIT1 (P349L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2405803	NM_015613.3(LRIT1):c.941G>T (p.Gly314Val)	LRIT1 (G314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400350	NM_015613.3(LRIT1):c.1547A>G (p.Asn516Ser)	LRIT1 (N516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397166	NM_015613.3(LRIT1):c.1414C>T (p.Arg472Trp)	LRIT1 (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394668	NM_015613.3(LRIT1):c.1687G>T (p.Asp563Tyr)	LRIT1 (D563Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394519	NM_015613.3(LRIT1):c.368C>T (p.Pro123Leu)	LRIT1 (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392609	NM_015613.3(LRIT1):c.1609A>G (p.Ile537Val)	LRIT1 (I537V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386536	NM_015613.3(LRIT1):c.367C>T (p.Pro123Ser)	LRIT1 (P123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372545	NM_015613.3(LRIT1):c.361G>A (p.Ala121Thr)	LRIT1 (A121T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371725	NM_015613.3(LRIT1):c.141C>G (p.Asp47Glu)	LRIT1 (D47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365352	NM_015613.3(LRIT1):c.1840G>A (p.Gly614Arg)	LRIT1 (G614R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364920	NM_015613.3(LRIT1):c.1250A>G (p.Glu417Gly)	LRIT1 (E417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359630	NM_015613.3(LRIT1):c.1168G>C (p.Ala390Pro)	LRIT1 (A390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359545	NM_015613.3(LRIT1):c.1360A>G (p.Lys454Glu)	LRIT1 (K454E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343481	NM_015613.3(LRIT1):c.677T>C (p.Ile226Thr)	LRIT1 (I226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324154	NM_015613.3(LRIT1):c.1289T>C (p.Met430Thr)	LRIT1 (M430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298719	NM_015613.3(LRIT1):c.707G>T (p.Arg236Leu)	LRIT1 (R236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298420	NM_015613.3(LRIT1):c.530C>T (p.Ser177Phe)	LRIT1 (S177F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282177	NM_015613.3(LRIT1):c.664A>G (p.Asn222Asp)	LRIT1 (N222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279840	NM_015613.3(LRIT1):c.1517G>A (p.Arg506Gln)	LRIT1 (R506Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269919	NM_015613.3(LRIT1):c.323G>C (p.Arg108Pro)	LRIT1 (R108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256793	NM_015613.3(LRIT1):c.422A>G (p.Asn141Ser)	LRIT1 (N141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256157	NM_015613.3(LRIT1):c.215G>T (p.Arg72Leu)	LRIT1 (R72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220798	NM_015613.3(LRIT1):c.178G>C (p.Asp60His)	LRIT1 (D60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207031	NM_015613.3(LRIT1):c.329G>A (p.Arg110Gln)	LRIT1 (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206958	NM_015613.3(LRIT1):c.1743G>C (p.Glu581Asp)	LRIT1 (E581D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206667	NM_015613.3(LRIT1):c.423C>G (p.Asn141Lys)	LRIT1 (N141K)	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 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	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

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