PDIA6[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 2377973	NM_005742.4(PDIA6):c.1229A>C (p.Glu410Ala)	ATP6V1C2, PDIA6 (E415A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559827	NM_005742.4(PDIA6):c.1219G>C (p.Val407Leu)	ATP6V1C2, PDIA6 (V404L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409877	NM_005742.4(PDIA6):c.1198G>C (p.Gly400Arg)	ATP6V1C2, PDIA6 (G452R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393710	NM_005742.4(PDIA6):c.1042G>A (p.Ala348Thr)	PDIA6 (A345T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604852	NM_005742.4(PDIA6):c.947A>G (p.Tyr316Cys)	PDIA6 (Y368C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510149	NM_005742.4(PDIA6):c.907C>G (p.Pro303Ala)	PDIA6 (P355A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258578	NM_005742.4(PDIA6):c.895G>T (p.Val299Leu)	PDIA6 (V299L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617629	NM_005742.4(PDIA6):c.847A>G (p.Asn283Asp)	PDIA6 (N335D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620380	NM_005742.4(PDIA6):c.845T>G (p.Ile282Ser)	PDIA6 (I282S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358186	NM_005742.4(PDIA6):c.821C>T (p.Pro274Leu)	PDIA6 (P322L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723893	NM_005742.4(PDIA6):c.702del (p.Arg235fs)	PDIA6 (R232fs +4 more)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 2364270	NM_005742.4(PDIA6):c.697G>A (p.Gly233Arg)	PDIA6 (G281R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588319	NM_005742.4(PDIA6):c.632C>T (p.Thr211Met)	PDIA6 (T259M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334421	NM_005742.4(PDIA6):c.547del (p.Val183fs)	PDIA6 (V180fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2262077	NM_005742.4(PDIA6):c.413G>A (p.Arg138His)	PDIA6 (R143H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068107	NM_005742.4(PDIA6):c.286del (p.Gln96fs)	PDIA6 (Q101fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2219337	NM_005742.4(PDIA6):c.256C>T (p.His86Tyr)	PDIA6 (H134Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540307	NM_005742.4(PDIA6):c.145G>A (p.Glu49Lys)	PDIA6 (E49K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 814218	GRCh37/hg19 2p25.1(chr2:10668077-10958258)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689169	GRCh37/hg19 2p25.1(chr2:10479046-11113701)x3	ATP6V1C2, HPCAL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562578	GRCh37/hg19 2p25.1(chr2:10590176-10957034)x3	ATP6V1C2, NOL10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 41