POLDIP3[gene] - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 3308326	NM_032311.5(POLDIP3):c.1248A>T (p.Glu416Asp)	POLDIP3 (E416D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215060	NM_032311.5(POLDIP3):c.1223C>T (p.Ala408Val)	POLDIP3 (A408V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216316	NM_032311.5(POLDIP3):c.1157C>T (p.Ser386Phe)	POLDIP3 (S357F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366659	NM_032311.5(POLDIP3):c.1135C>T (p.Arg379Cys)	POLDIP3 (R379C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404949	NM_032311.5(POLDIP3):c.1040A>G (p.Asn347Ser)	POLDIP3 (N347S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325836	NM_032311.5(POLDIP3):c.977A>G (p.Asp326Gly)	POLDIP3 (D297G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375016	NM_032311.5(POLDIP3):c.909T>G (p.Cys303Trp)	POLDIP3 (C274W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352855	NM_032311.5(POLDIP3):c.850G>A (p.Val284Met)	POLDIP3 (V255M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384275	NM_032311.5(POLDIP3):c.780G>C (p.Lys260Asn)	POLDIP3 (K277N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216318	NM_032311.5(POLDIP3):c.756C>G (p.Asn252Lys)	POLDIP3 (N223K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294637	NM_032311.5(POLDIP3):c.749T>C (p.Leu250Ser)	POLDIP3 (L267S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507548	NM_032311.5(POLDIP3):c.737G>A (p.Arg246Gln)	POLDIP3 (R217Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606254	NM_032311.5(POLDIP3):c.709A>T (p.Thr237Ser)	POLDIP3 (T254S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542288	NM_032311.5(POLDIP3):c.704C>T (p.Ala235Val)	POLDIP3 (A206V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326342	NM_032311.5(POLDIP3):c.682A>G (p.Thr228Ala)	POLDIP3 (T199A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216317	NM_032311.5(POLDIP3):c.632T>A (p.Met211Lys)	POLDIP3 (M182K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309617	NM_032311.5(POLDIP3):c.616G>A (p.Gly206Ser)	POLDIP3 (G177S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374122	NM_032311.5(POLDIP3):c.605C>T (p.Ala202Val)	POLDIP3 (A202V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517458	NM_032311.5(POLDIP3):c.589A>G (p.Lys197Glu)	POLDIP3 (K197E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362714	NM_032311.5(POLDIP3):c.587C>T (p.Thr196Ile)	POLDIP3 (T213I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235323	NM_032311.5(POLDIP3):c.575C>T (p.Ala192Val)	POLDIP3 (A192V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 2399472	NM_032311.5(POLDIP3):c.473C>T (p.Ala158Val)	POLDIP3 (A158V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2621381	NM_032311.5(POLDIP3):c.469A>G (p.Met157Val)	POLDIP3 (M157V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608847	NM_032311.5(POLDIP3):c.136C>T (p.Arg46Cys)	POLDIP3 (R46C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216315	NM_032311.5(POLDIP3):c.101T>G (p.Val34Gly)	POLDIP3 (V34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345668	NM_032311.5(POLDIP3):c.92G>A (p.Arg31Gln)	POLDIP3 (R31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356632	NM_032311.5(POLDIP3):c.21C>G (p.Asp7Glu)	POLDIP3 (D7E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389741	NM_032311.5(POLDIP3):c.12C>G (p.Ile4Met)	POLDIP3 (I4M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248111	NC_000022.10:g.(?_42564659)_(43089957_?)dup	POLDIP3, A4GALT +6 more	Duplication	not provided	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 1808907	GRCh37/hg19 22q13.2(chr22:42765874-43059475)x3	ATP5MGL, CYB5R3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1341290	GRCh37/hg19 22q13.2(chr22:42918726-42982572)x1	POLDIP3, SERHL2	Copy number loss	not provided	GLikely benign
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66