ClinVar for Gene (Select 10954) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305529	NM_006810.4(PDIA5):c.1025C>G (p.Ala342Gly)	PDIA5 (A342G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305528	NM_006810.4(PDIA5):c.449C>T (p.Ala150Val)	PDIA5 (A150V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305527	NM_006810.4(PDIA5):c.171G>T (p.Glu57Asp)	PDIA5 (E57D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210926	NM_006810.4(PDIA5):c.539C>G (p.Pro180Arg)	PDIA5 (P180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210925	NM_006810.4(PDIA5):c.515C>T (p.Pro172Leu)	PDIA5 (P172L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210924	NM_006810.4(PDIA5):c.510G>T (p.Glu170Asp)	PDIA5 (E170D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210923	NM_006810.4(PDIA5):c.473G>T (p.Ser158Ile)	PDIA5 (S158I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210922	NM_006810.4(PDIA5):c.389C>A (p.Ser130Tyr)	PDIA5 (S130Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210921	NM_006810.4(PDIA5):c.176C>T (p.Ala59Val)	PDIA5 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210920	NM_006810.4(PDIA5):c.1474C>T (p.Arg492Cys)	PDIA5 (R492C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210919	NM_006810.4(PDIA5):c.1309A>G (p.Thr437Ala)	PDIA5 (T437A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210918	NM_006810.4(PDIA5):c.1283A>T (p.His428Leu)	PDIA5 (H428L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210917	NM_006810.4(PDIA5):c.1259T>C (p.Met420Thr)	PDIA5 (M420T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615967	NM_006810.4(PDIA5):c.1000G>C (p.Ala334Pro)	PDIA5 (A334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613670	NM_006810.4(PDIA5):c.1345A>G (p.Ile449Val)	PDIA5 (I449V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601721	NM_006810.4(PDIA5):c.826G>A (p.Gly276Ser)	PDIA5 (G276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592833	NM_006810.4(PDIA5):c.685A>G (p.Thr229Ala)	PDIA5 (T229A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2551129	NM_006810.4(PDIA5):c.1516G>A (p.Glu506Lys)	PDIA5 (E506K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537243	NM_006810.4(PDIA5):c.1538G>C (p.Gly513Ala)	PDIA5 (G513A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530217	NM_006810.4(PDIA5):c.296T>C (p.Val99Ala)	PDIA5 (V99A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516785	NM_006810.4(PDIA5):c.1304A>G (p.His435Arg)	PDIA5 (H435R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509749	NM_006810.4(PDIA5):c.1453G>A (p.Ala485Thr)	PDIA5 (A485T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507903	NM_006810.4(PDIA5):c.1140A>T (p.Gln380His)	PDIA5 (Q380H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471045	NM_006810.4(PDIA5):c.1162C>A (p.Pro388Thr)	PDIA5 (P388T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455332	NM_006810.4(PDIA5):c.847G>A (p.Asp283Asn)	PDIA5 (D283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2374958	NM_006810.4(PDIA5):c.1301C>T (p.Pro434Leu)	PDIA5 (P434L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370051	NM_006810.4(PDIA5):c.1453G>T (p.Ala485Ser)	PDIA5 (A485S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353273	NM_006810.4(PDIA5):c.385A>G (p.Lys129Glu)	PDIA5 (K129E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351973	NM_006810.4(PDIA5):c.691T>A (p.Cys231Ser)	PDIA5 (C231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347564	NM_006810.4(PDIA5):c.536C>T (p.Ala179Val)	PDIA5 (A179V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336054	NM_006810.4(PDIA5):c.235A>G (p.Thr79Ala)	PDIA5 (T79A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310221	NM_006810.4(PDIA5):c.137G>A (p.Arg46Gln)	PDIA5 (R46Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307943	NM_006810.4(PDIA5):c.55T>C (p.Ser19Pro)	PDIA5 (S19P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289209	NM_006810.4(PDIA5):c.799C>T (p.Pro267Ser)	PDIA5 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263694	NM_006810.4(PDIA5):c.1003G>C (p.Val335Leu)	PDIA5 (V335L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244697	NM_006810.4(PDIA5):c.472A>G (p.Ser158Gly)	PDIA5 (S158G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211472	NM_006810.4(PDIA5):c.377T>C (p.Val126Ala)	PDIA5 (V126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209133	NM_006810.4(PDIA5):c.1157C>T (p.Pro386Leu)	PDIA5 (P386L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 814475	GRCh37/hg19 3q21.1(chr3:122772877-122887375)x1	PDIA5	Copy number loss	not provided	GUncertain significance
Select item 689039	GRCh37/hg19 3q21.1(chr3:122827227-123114031)x3	ADCY5, PDIA5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 685490	GRCh37/hg19 3q21.1(chr3:122823501-123012544)x3	ADCY5, PDIA5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60