ClinVar for Gene (Select 27199) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359195	NM_001346194.2(OXGR1):c.136G>A (p.Val46Met)	OXGR1 (V46M)	Single nucleotide variant (missense variant)	Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis	GLikely pathogenic
Select item 3303764	NM_001346194.2(OXGR1):c.328C>T (p.Arg110Cys)	OXGR1 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303763	NM_001346194.2(OXGR1):c.265C>A (p.Leu89Met)	OXGR1 (L89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303762	NM_001346194.2(OXGR1):c.796G>A (p.Glu266Lys)	OXGR1 (E266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303761	NM_001346194.2(OXGR1):c.391C>T (p.Arg131Cys)	OXGR1 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207571	NM_001346194.2(OXGR1):c.818G>T (p.Ser273Ile)	OXGR1 (S273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207570	NM_001346194.2(OXGR1):c.754G>A (p.Val252Ile)	OXGR1 (V252I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207569	NM_001346194.2(OXGR1):c.314T>C (p.Met105Thr)	OXGR1 (M105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207568	NM_001346194.2(OXGR1):c.1006A>C (p.Asn336His)	OXGR1 (N336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2502149	NM_001346194.2(OXGR1):c.649T>C (p.Cys217Arg)	OXGR1	Single nucleotide variant (missense variant)	Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis	GPathogenic
Select item 2502147	NM_001346194.2(OXGR1):c.166del (p.Ser56fs)	OXGR1 (S56fs)	Deletion (frameshift variant)	Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis	GPathogenic
Select item 2502146	NM_001346194.2(OXGR1):c.371T>G (p.Leu124Arg)	OXGR1	Single nucleotide variant (missense variant)	Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis	GPathogenic
Select item 2480876	NM_001346194.2(OXGR1):c.856G>C (p.Val286Leu)	OXGR1 (V286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2404574	NM_001346194.2(OXGR1):c.697A>C (p.Ser233Arg)	OXGR1 (S233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386792	NM_001346194.2(OXGR1):c.802C>T (p.Arg268Cys)	OXGR1 (R268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384328	NM_001346194.2(OXGR1):c.894C>A (p.Asn298Lys)	OXGR1 (N298K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376595	NM_001346194.2(OXGR1):c.430A>G (p.Ile144Val)	OXGR1 (I144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373428	NM_001346194.2(OXGR1):c.973C>T (p.Leu325Phe)	OXGR1 (L325F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338549	NM_001346194.2(OXGR1):c.817A>G (p.Ser273Gly)	OXGR1 (S273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333027	NM_001346194.2(OXGR1):c.275A>G (p.Tyr92Cys)	OXGR1 (Y92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297719	NM_001346194.2(OXGR1):c.919G>A (p.Asp307Asn)	OXGR1 (D307N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288329	NM_001346194.2(OXGR1):c.529A>G (p.Arg177Gly)	OXGR1 (R177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277825	NM_001346194.2(OXGR1):c.1004A>T (p.Asn335Ile)	OXGR1 (N335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277733	NM_001346194.2(OXGR1):c.62T>A (p.Phe21Tyr)	OXGR1 (F21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255903	NM_001346194.2(OXGR1):c.419G>C (p.Ser140Thr)	OXGR1 (S140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247819	NM_001346194.2(OXGR1):c.761T>A (p.Phe254Tyr)	OXGR1 (F254Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238871	NM_001346194.2(OXGR1):c.851A>G (p.Tyr284Cys)	OXGR1 (Y284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236423	NM_001346194.2(OXGR1):c.329G>A (p.Arg110His)	OXGR1 (R110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217162	NM_001346194.2(OXGR1):c.893A>G (p.Asn298Ser)	OXGR1 (N298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527790	GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)	ABCC4, CLDN10 +18 more	Copy number loss	not specified	GUncertain significance
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340083	GRCh37/hg19 13q32.1(chr13:97387902-97732153)x3	HS6ST3, OXGR1	Copy number gain	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 779956	NM_001346194.2(OXGR1):c.134del (p.Leu45fs)	OXGR1 (L45fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 688551	GRCh37/hg19 13q32.1(chr13:96664619-97662040)x1	HS6ST3, OXGR1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 564052	GRCh37/hg19 13q32.1(chr13:96664236-97672631)x1	HS6ST3, UGGT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	TGDS, TM9SF2 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 more	Copy number loss	See cases	GPathogenic
Select item 395197	GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1	ABCC4, CLDN10 +43 more	Copy number loss	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	LOC130010040, LOC130010041 +236 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic

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