PROZ[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 162

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	MCF2L-AS1, METTL21C +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130009994, LOC130009995 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC130010070, LOC130010071 +663 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 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130010106, LOC130010107 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	LOC110008580, LOC110120930 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	ABHD13, ADPRHL1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	LINC02337, LINC03032 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	LINC03082, LOC100506016 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	ABHD13, ADPRHL1 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	LOC124946347, LOC124946348 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	ADPRHL1, ARHGEF7 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 2664044	NM_003891.3(PROZ):c.31C>G (p.Leu11Val)	PROZ (L11V)	Single nucleotide variant (missense variant)	Protein Z deficiency	GUncertain significance
Select item 2515522	NM_003891.3(PROZ):c.97G>A (p.Asp33Asn)	PROZ (D33N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412171	NM_003891.3(PROZ):c.119G>A (p.Arg40His)	PROZ (R62H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245032	NM_003891.3(PROZ):c.121G>A (p.Ala41Thr)	PROZ (A41T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543265	NM_003891.3(PROZ):c.175T>A (p.Tyr59Asn)	PROZ (Y81N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318219	NM_003891.3(PROZ):c.194A>C (p.Tyr65Ser)	PROZ (Y87S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 29850	NM_003891.3(PROZ):c.208G>C (p.Glu70Gln)	PROZ (E70Q +1 more)	Single nucleotide variant (missense variant)	Protein Z deficiency	GAffects
Select item 734833	NM_003891.3(PROZ):c.255T>C (p.Tyr85=)	PROZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324427	NM_003891.3(PROZ):c.260G>A (p.Gly87Asp)	PROZ (G87D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047135	NM_003891.3(PROZ):c.268C>G (p.Pro90Ala)	PROZ (P112A +1 more)	Single nucleotide variant (missense variant)	PROZ-related condition	GLikely benign
Select item 2234197	NM_003891.3(PROZ):c.269C>G (p.Pro90Arg)	PROZ (P90R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331474	NM_003891.3(PROZ):c.310G>A (p.Asp104Asn)	PROZ (D126N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353695	NM_003891.3(PROZ):c.340T>C (p.Ser114Pro)	PROZ (S136P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482019	NM_003891.3(PROZ):c.367G>C (p.Glu123Gln)	PROZ (E123Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550298	NM_003891.3(PROZ):c.388C>T (p.His130Tyr)	PROZ (H130Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244248	NM_003891.3(PROZ):c.398G>A (p.Arg133Gln)	PROZ (R155Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551801	NM_003891.3(PROZ):c.504C>A (p.His168Gln)	PROZ (H190Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377580	NM_003891.3(PROZ):c.537G>C (p.Glu179Asp)	PCID2, PROZ (E179D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229634	NM_003891.3(PROZ):c.542G>A (p.Arg181His)	PROZ, PCID2 (R203H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035274	NM_003891.3(PROZ):c.549G>A (p.Pro183=)	PCID2, PROZ	Single nucleotide variant (synonymous variant)	PROZ-related condition	GLikely benign
Select item 2215350	NM_003891.3(PROZ):c.566C>T (p.Pro189Leu)	PROZ, PCID2 (P189L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219701	NM_003891.3(PROZ):c.592G>A (p.Glu198Lys)	PCID2, PROZ (E198K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483317	NM_003891.3(PROZ):c.595G>A (p.Gly199Arg)	PCID2, PROZ (G199R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466317	NM_003891.3(PROZ):c.625C>T (p.Arg209Trp)	PCID2, PROZ (R231W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 736963	NM_003891.3(PROZ):c.672del (p.Asn225fs)	PCID2, PROZ (N225fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2520030	NM_003891.3(PROZ):c.701G>A (p.Arg234Lys)	PROZ, PCID2 (R234K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284722	NM_003891.3(PROZ):c.739G>A (p.Val247Ile)	PROZ, PCID2 (V269I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217247	NM_003891.3(PROZ):c.752T>C (p.Met251Thr)	PROZ, PCID2 (M273T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382571	NM_003891.3(PROZ):c.754C>T (p.Arg252Trp)	PCID2, PROZ (R274W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295428	NM_003891.3(PROZ):c.764C>T (p.Ala255Val)	PCID2, PROZ (A255V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2208262	NM_003891.3(PROZ):c.862G>A (p.Ala288Thr)	PCID2, PROZ (A288T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722302	NM_003891.3(PROZ):c.871C>T (p.Leu291Phe)	PCID2, PROZ (L291F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3056128	NM_003891.3(PROZ):c.884G>A (p.Arg295His)	PCID2, PROZ (R295H +1 more)	Single nucleotide variant (missense variant)	PROZ-related condition	GLikely benign
Select item 779649	NM_003891.3(PROZ):c.903C>T (p.Ser301=)	PCID2, PROZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2400927	NM_003891.3(PROZ):c.904G>A (p.Gly302Ser)	PCID2, PROZ (G302S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734834	NM_003891.3(PROZ):c.948G>A (p.Thr316=)	PROZ, PCID2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2532361	NM_003891.3(PROZ):c.1030A>G (p.Ser344Gly)	PCID2, PROZ (S366G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2456463	NM_003891.3(PROZ):c.1036G>A (p.Val346Met)	PCID2, PROZ (V368M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465851	NM_003891.3(PROZ):c.1059T>A (p.Asp353Glu)	PCID2, PROZ (D353E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2489066	NM_003891.3(PROZ):c.1061G>C (p.Gly354Ala)	PCID2, PROZ (G354A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	MCF2L, TFDP1 +21 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2