ClinVar for Gene (Select 55795) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305122	NM_001127202.4(PCID2):c.694T>G (p.Tyr232Asp)	PCID2 (Y190D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305121	NM_001127202.4(PCID2):c.1190C>T (p.Thr397Met)	PCID2 (T355M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3219137	NM_003891.3(PROZ):c.983G>C (p.Gly328Ala)	PCID2, PROZ (G328A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219136	NM_003891.3(PROZ):c.827C>T (p.Ala276Val)	PCID2, PROZ (A276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219135	NM_003891.3(PROZ):c.704C>T (p.Thr235Met)	PCID2, PROZ (T235M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219126	NM_003891.3(PROZ):c.1157C>T (p.Thr386Ile)	PCID2, PROZ (T408I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219124	NM_003891.3(PROZ):c.1063A>G (p.Ser355Gly)	PCID2, PROZ (S355G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210203	NM_001127202.4(PCID2):c.856G>A (p.Val286Met)	PCID2 (V119M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210202	NM_001127202.4(PCID2):c.278G>A (p.Arg93Gln)	PCID2 (R147Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210200	NM_001127202.4(PCID2):c.248G>A (p.Cys83Tyr)	PCID2 (C41Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	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 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 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 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3056128	NM_003891.3(PROZ):c.884G>A (p.Arg295His)	PCID2, PROZ (R295H +1 more)	Single nucleotide variant (missense variant)	PROZ-related disorder	GLikely benign
Select item 3035274	NM_003891.3(PROZ):c.549G>A (p.Pro183=)	PCID2, PROZ	Single nucleotide variant (synonymous variant)	PROZ-related disorder	GLikely benign
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 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 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 2627064	NM_003891.3(PROZ):c.776A>T (p.Glu259Val)	PCID2, PROZ (E259V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2627041	NM_003891.3(PROZ):c.848_849del (p.Pro283fs)	PROZ, PCID2 (P283fs +1 more)	Deletion (frameshift variant)	Protein Z deficiency	GUncertain significance
Select item 2622317	NM_001127202.4(PCID2):c.883C>A (p.His295Asn)	PCID2 (H293N +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2557882	NM_001127202.4(PCID2):c.728C>G (p.Ser243Cys)	PCID2 (S241C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537239	NM_001127202.4(PCID2):c.43G>A (p.Glu15Lys)	PCID2 (E13K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532361	NM_003891.3(PROZ):c.1030A>G (p.Ser344Gly)	PCID2, PROZ (S366G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520030	NM_003891.3(PROZ):c.701G>A (p.Arg234Lys)	PCID2, PROZ (R234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489066	NM_003891.3(PROZ):c.1061G>C (p.Gly354Ala)	PCID2, PROZ (G354A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483317	NM_003891.3(PROZ):c.595G>A (p.Gly199Arg)	PCID2, PROZ (G199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466317	NM_003891.3(PROZ):c.625C>T (p.Arg209Trp)	PCID2, PROZ (R231W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465851	NM_003891.3(PROZ):c.1059T>A (p.Asp353Glu)	PCID2, PROZ (D353E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456463	NM_003891.3(PROZ):c.1036G>A (p.Val346Met)	PCID2, PROZ (V368M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400927	NM_003891.3(PROZ):c.904G>A (p.Gly302Ser)	PCID2, PROZ (G302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394500	NM_001127202.4(PCID2):c.673G>A (p.Asp225Asn)	PCID2 (D183N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382571	NM_003891.3(PROZ):c.754C>T (p.Arg252Trp)	PCID2, PROZ (R274W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377580	NM_003891.3(PROZ):c.537G>C (p.Glu179Asp)	PCID2, PROZ (E179D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339350	NM_001127202.4(PCID2):c.748A>G (p.Met250Val)	PCID2 (M250V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312684	NM_001127202.4(PCID2):c.280G>A (p.Ala94Thr)	PCID2 (A94T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295428	NM_003891.3(PROZ):c.764C>T (p.Ala255Val)	PCID2, PROZ (A255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284722	NM_003891.3(PROZ):c.739G>A (p.Val247Ile)	PCID2, PROZ (V269I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229634	NM_003891.3(PROZ):c.542G>A (p.Arg181His)	PCID2, PROZ (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219701	NM_003891.3(PROZ):c.592G>A (p.Glu198Lys)	PCID2, PROZ (E198K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217247	NM_003891.3(PROZ):c.752T>C (p.Met251Thr)	PCID2, PROZ (M273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215350	NM_003891.3(PROZ):c.566C>T (p.Pro189Leu)	PCID2, PROZ (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208262	NM_003891.3(PROZ):c.862G>A (p.Ala288Thr)	PCID2, PROZ (A288T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 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 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340736	GRCh37/hg19 13q34(chr13:113536131-113875644)x3	ATP11A, CUL4A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 988841	NM_003891.3(PROZ):c.647C>T (p.Thr216Ile)	PROZ, PCID2 (T216I +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815626	GRCh37/hg19 13q34(chr13:113626234-113875062)x3	PROZ, PCID2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 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 779649	NM_003891.3(PROZ):c.903C>T (p.Ser301=)	PCID2, PROZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738395	NM_003891.3(PROZ):c.769G>A (p.Ala257Thr)	PCID2, PROZ (A279T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 736963	NM_003891.3(PROZ):c.672del (p.Asn225fs)	PCID2, PROZ (N225fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 734849	NM_001127202.4(PCID2):c.405G>T (p.Gly135=)	PCID2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 734834	NM_003891.3(PROZ):c.948G>A (p.Thr316=)	PCID2, PROZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732181	NM_001127202.4(PCID2):c.1111-4G>A	PCID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722302	NM_003891.3(PROZ):c.871C>T (p.Leu291Phe)	PCID2, PROZ (L291F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
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 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564076	GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	PCID2, TUBGCP3 +39 more	Copy number gain	not provided	GPathogenic

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