PDIA3[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 1266862	Single allele	LOC130056953, PDIA3	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 2517549	NM_005313.5(PDIA3):c.5G>A (p.Arg2His)	PDIA3 (R2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396833	NM_005313.5(PDIA3):c.10C>T (p.Arg4Cys)	PDIA3 (R4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329965	NM_005313.5(PDIA3):c.32G>T (p.Gly11Val)	PDIA3 (G11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328717	NM_005313.5(PDIA3):c.49G>T (p.Ala17Ser)	PDIA3 (A17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727554	NM_005313.5(PDIA3):c.56C>T (p.Ala19Val)	PDIA3 (A19V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2540096	NM_005313.5(PDIA3):c.79G>A (p.Val27Met)	PDIA3 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275243	NM_005313.5(PDIA3):c.106G>A (p.Glu36Lys)	PDIA3 (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262760	NM_005313.5(PDIA3):c.162C>T (p.Ala54=)	PDIA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714532	NM_005313.5(PDIA3):c.168-9C>T	PDIA3	Single nucleotide variant (intron variant)	PDIA3-related disorder +1 more	GBenign
Select item 492933	NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr)	PDIA3 (C57Y)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 3210897	NM_005313.5(PDIA3):c.266C>T (p.Thr89Ile)	PDIA3 (T89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210898	NM_005313.5(PDIA3):c.307C>G (p.Leu103Val)	PDIA3 (L103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1250388	NM_005313.5(PDIA3):c.365-5C>T	PDIA3	Single nucleotide variant (intron variant)	PDIA3-related disorder +1 more	GBenign
Select item 2267658	NM_005313.5(PDIA3):c.377G>A (p.Ser126Asn)	PDIA3 (S126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046366	NM_005313.5(PDIA3):c.472+7A>G	PDIA3	Single nucleotide variant (intron variant)	PDIA3-related disorder	GLikely benign
Select item 1283207	NM_005313.5(PDIA3):c.472+158A>G	PDIA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507772	NM_005313.5(PDIA3):c.568G>A (p.Glu190Lys)	PDIA3 (E190K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3055506	NM_005313.5(PDIA3):c.603-5_603-4dup	PDIA3	Duplication (intron variant)	PDIA3-related disorder	GLikely benign
Select item 2342013	NM_005313.5(PDIA3):c.625T>G (p.Ser209Ala)	PDIA3 (S209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466534	NM_005313.5(PDIA3):c.629A>G (p.His210Arg)	PDIA3 (H210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210899	NM_005313.5(PDIA3):c.760T>A (p.Leu254Met)	PDIA3 (L254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757646	NM_005313.5(PDIA3):c.816C>T (p.Asn272=)	PDIA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1295124	NM_005313.5(PDIA3):c.845+122dup	PDIA3	Duplication (intron variant)	not provided	GBenign
Select item 1253245	NM_005313.5(PDIA3):c.845+141del	PDIA3	Deletion (intron variant)	not provided	GBenign
Select item 1271074	NM_005313.5(PDIA3):c.846-292G>C	PDIA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727555	NM_005313.5(PDIA3):c.858G>A (p.Val286=)	PDIA3	Single nucleotide variant (synonymous variant)	PDIA3-related disorder +1 more	GBenign
Select item 3210900	NM_005313.5(PDIA3):c.910C>T (p.Arg304Cys)	PDIA3 (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465845	NM_005313.5(PDIA3):c.930A>T (p.Glu310Asp)	PDIA3 (E310D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210901	NM_005313.5(PDIA3):c.973G>C (p.Val325Leu)	PDIA3 (V325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550897	NM_005313.5(PDIA3):c.982A>G (p.Ile328Val)	PDIA3 (I328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239498	NM_005313.5(PDIA3):c.1028+214T>C	PDIA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239020	NM_005313.5(PDIA3):c.1029-252T>C	PDIA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2528821	NM_005313.5(PDIA3):c.1069T>C (p.Phe357Leu)	PDIA3 (F357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273934	NM_005313.5(PDIA3):c.1137+88C>T	PDIA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2245633	NM_005313.5(PDIA3):c.1151A>G (p.Glu384Gly)	PDIA3 (E384G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474231	NM_005313.5(PDIA3):c.1184A>C (p.Lys395Thr)	PDIA3 (K395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257424	NM_005313.5(PDIA3):c.1224C>T (p.His408=)	PDIA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3052887	NM_005313.5(PDIA3):c.1260C>T (p.Gly420=)	PDIA3	Single nucleotide variant (synonymous variant)	PDIA3-related disorder	GLikely benign
Select item 1228654	NM_005313.5(PDIA3):c.1404+96A>T	PDIA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060881	NM_005313.5(PDIA3):c.1458C>T (p.Asn486=)	PDIA3	Single nucleotide variant (synonymous variant)	PDIA3-related disorder	GBenign
Select item 2402026	NM_005313.5(PDIA3):c.1483C>A (p.Pro495Thr)	PDIA3 (P495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088322	NM_025165.3(ELL3):c.1111C>T (p.Arg371Cys)	ELL3, PDIA3 (R371C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024593	GRCh37/hg19 15q15.3(chr15:43988438-44216507)x3	ELL3, FRMD5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1175707	NC_000015.9:g.(43851199_43890391)_(?_44038820)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1174526	NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	CKMT1A, CKMT1B +4 more	Deletion	Deafness-infertility syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 61