ClinVar for Gene (Select 9601) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305526	NM_004911.5(PDIA4):c.25C>T (p.Leu9Phe)	PDIA4 (L9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305525	NM_004911.5(PDIA4):c.1816G>A (p.Ala606Thr)	PDIA4 (A606T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305524	NM_004911.5(PDIA4):c.1864A>G (p.Arg622Gly)	PDIA4 (R622G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210916	NM_004911.5(PDIA4):c.841G>A (p.Glu281Lys)	PDIA4 (E258K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210915	NM_004911.5(PDIA4):c.743A>G (p.Asp248Gly)	PDIA4 (D248G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210914	NM_004911.5(PDIA4):c.722C>T (p.Thr241Ile)	PDIA4 (Q246* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210913	NM_004911.5(PDIA4):c.709G>A (p.Ala237Thr)	PDIA4 (A237T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210912	NM_004911.5(PDIA4):c.658G>A (p.Ala220Thr)	PDIA4 (A220T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210910	NM_004911.5(PDIA4):c.287A>G (p.Gln96Arg)	PDIA4 (Q96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210909	NM_004911.5(PDIA4):c.1832A>C (p.Lys611Thr)	PDIA4 (K611T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210908	NM_004911.5(PDIA4):c.1741G>A (p.Ala581Thr)	PDIA4 (A558T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210907	NM_004911.5(PDIA4):c.1595G>A (p.Gly532Glu)	PDIA4 (G509E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210906	NM_004911.5(PDIA4):c.1583A>G (p.Lys528Arg)	PDIA4 (K528R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210905	NM_004911.5(PDIA4):c.1306A>C (p.Ser436Arg)	PDIA4 (S436R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210904	NM_004911.5(PDIA4):c.117G>C (p.Glu39Asp)	PDIA4 (E39D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210903	NM_004911.5(PDIA4):c.1048G>C (p.Val350Leu)	PDIA4 (V327L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685273	GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1	C7orf33, CNTNAP2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2681478	NM_004911.5(PDIA4):c.50A>T (p.Gln17Leu)	PDIA4 (Q17L)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2619681	NM_004911.5(PDIA4):c.1177G>A (p.Ala393Thr)	PDIA4 (A370T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2611180	NM_004911.5(PDIA4):c.1150G>A (p.Ala384Thr)	PDIA4 (A361T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2554582	NM_004911.5(PDIA4):c.59C>G (p.Ala20Gly)	PDIA4 (A20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551003	NM_004911.5(PDIA4):c.1399C>T (p.Leu467Phe)	PDIA4 (L467F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549463	NM_004911.5(PDIA4):c.1697A>G (p.Asn566Ser)	PDIA4 (N567S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2546608	NM_004911.5(PDIA4):c.1021A>G (p.Ser341Gly)	PDIA4 (S318G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544361	NM_004911.5(PDIA4):c.939G>T (p.Lys313Asn)	PDIA4 (K290N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539718	NM_004911.5(PDIA4):c.928G>A (p.Gly310Arg)	PDIA4 (G287R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514377	NM_004911.5(PDIA4):c.1612A>G (p.Ile538Val)	PDIA4 (I515V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470622	NM_004911.5(PDIA4):c.1249G>A (p.Val417Ile)	PDIA4 (V394I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461516	NM_004911.5(PDIA4):c.1753G>A (p.Ala585Thr)	PDIA4 (A585T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460228	NM_004911.5(PDIA4):c.278A>G (p.His93Arg)	PDIA4 (H93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458478	NM_004911.5(PDIA4):c.629A>G (p.Lys210Arg)	PDIA4 (R215G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2406290	NM_004911.5(PDIA4):c.1475A>G (p.Glu492Gly)	PDIA4 (E469G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399129	NM_004911.5(PDIA4):c.1304G>A (p.Arg435Gln)	PDIA4 (R436Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390474	NM_004911.5(PDIA4):c.677G>A (p.Arg226His)	PDIA4 (R226H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359483	NM_004911.5(PDIA4):c.1498G>A (p.Glu500Lys)	PDIA4 (E501K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317560	NM_004911.5(PDIA4):c.1636G>A (p.Val546Ile)	PDIA4 (V546I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309561	NM_004911.5(PDIA4):c.360C>G (p.Ile120Met)	PDIA4 (I120M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264513	NM_004911.5(PDIA4):c.541G>A (p.Val181Met)	PDIA4 (V181M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257910	NM_004911.5(PDIA4):c.1769T>A (p.Val590Asp)	PDIA4 (V590D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250957	NM_004911.5(PDIA4):c.1777G>T (p.Asp593Tyr)	PDIA4 (D593Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247822	NM_004911.5(PDIA4):c.1828G>A (p.Asp610Asn)	PDIA4 (D611N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213398	NM_004911.5(PDIA4):c.1690G>A (p.Val564Met)	PDIA4 (V565M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 972930	GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3	ATP6V0E2, C7orf33 +20 more	Copy number loss	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 789593	NM_004911.5(PDIA4):c.714C>T (p.Thr238=)	PDIA4 (P243L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 719803	NM_004911.5(PDIA4):c.721A>G (p.Thr241Ala)	PDIA4 (T241A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 684492	Single allele	ATP6V0E2, C7orf33 +20 more	Duplication	not provided	Gnot provided
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic

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