EDC3[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 756592	NM_025083.5(EDC3):c.1521T>C (p.Ser507=)	EDC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274471	NM_025083.5(EDC3):c.1432G>A (p.Asp478Asn)	EDC3 (D333N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176633	NM_025083.5(EDC3):c.1431C>T (p.Cys477=)	EDC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758198	NM_025083.5(EDC3):c.1410C>T (p.His470=)	EDC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045617	NM_025083.5(EDC3):c.1389G>A (p.Leu463=)	EDC3	Single nucleotide variant (synonymous variant)	EDC3-related disorder	GLikely benign
Select item 749932	NM_025083.5(EDC3):c.1375C>T (p.Leu459=)	EDC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613428	NM_025083.5(EDC3):c.1184G>A (p.Ser395Asn)	EDC3 (S250N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558127	NM_025083.5(EDC3):c.1169G>C (p.Gly390Ala)	EDC3 (G390A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337067	NM_025083.5(EDC3):c.1159A>C (p.Lys387Gln)	EDC3 (K242Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737728	NM_025083.5(EDC3):c.1102C>A (p.Leu368Met)	EDC3 (L368M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3274470	NM_025083.5(EDC3):c.986A>G (p.Lys329Arg)	EDC3 (K329R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332702	NM_025083.5(EDC3):c.953C>A (p.Thr318Asn)	EDC3 (T173N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645542	NM_025083.5(EDC3):c.949C>T (p.Leu317=)	EDC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494930	NM_025083.5(EDC3):c.934G>A (p.Ala312Thr)	EDC3 (A167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402295	NM_025083.5(EDC3):c.877G>A (p.Val293Met)	EDC3 (V148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087131	NM_025083.5(EDC3):c.863A>G (p.Lys288Arg)	EDC3 (K143R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087130	NM_025083.5(EDC3):c.861T>A (p.His287Gln)	EDC3 (H142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263071	NM_025083.5(EDC3):c.832G>T (p.Val278Phe)	EDC3 (V278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337068	NM_025083.5(EDC3):c.821-2A>C	EDC3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 712171	NM_025083.5(EDC3):c.819G>A (p.Thr273=)	EDC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2691435	NM_025083.5(EDC3):c.818C>T (p.Thr273Met)	EDC3 (T128M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299237	NM_025083.5(EDC3):c.778C>T (p.Arg260Trp)	EDC3 (R115W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 50	GUncertain significance
Select item 2455638	NM_025083.5(EDC3):c.728G>A (p.Arg243Gln)	EDC3 (R98Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489051	NM_025083.5(EDC3):c.725C>G (p.Thr242Ser)	EDC3 (T242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591174	NM_025083.5(EDC3):c.695G>A (p.Arg232His)	EDC3 (R232H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754638	NM_025083.5(EDC3):c.633T>G (p.Ala211=)	EDC3	Single nucleotide variant (synonymous variant)	EDC3-related disorder +1 more	GBenign/Likely benign
Select item 2645543	NM_025083.5(EDC3):c.576C>T (p.Phe192=)	EDC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404799	NM_025083.5(EDC3):c.514G>C (p.Ala172Pro)	EDC3 (A172P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068515	NM_025083.5(EDC3):c.512del (p.Gln171fs)	EDC3 (Q171fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 50	GPathogenic
Select item 3033392	NM_025083.5(EDC3):c.498C>T (p.Ser166=)	EDC3	Single nucleotide variant (synonymous variant)	EDC3-related disorder	GLikely benign
Select item 3087128	NM_025083.5(EDC3):c.436A>G (p.Met146Val)	EDC3 (M146V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645544	NM_025083.5(EDC3):c.282C>T (p.Gly94=)	EDC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751757	NM_025083.5(EDC3):c.256C>A (p.Pro86Thr)	EDC3 (P86T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2258741	NM_025083.5(EDC3):c.250T>G (p.Leu84Val)	EDC3 (L84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087127	NM_025083.5(EDC3):c.224A>G (p.His75Arg)	EDC3 (H75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050496	NM_025083.5(EDC3):c.180G>A (p.Thr60=)	EDC3	Single nucleotide variant (synonymous variant +1 more)	EDC3-related disorder	GLikely benign
Select item 372218	NM_025083.5(EDC3):c.161T>C (p.Phe54Ser)	EDC3 (F54S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 50	GPathogenic
Select item 2645545	NM_025083.5(EDC3):c.111C>T (p.Leu37=)	EDC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737729	NM_025083.5(EDC3):c.109C>G (p.Leu37Val)	EDC3 (L37V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3063378	GRCh37/hg19 15q24.1-24.2(chr15:74823917-75455431)x3	ARID3B, CLK3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 686659	GRCh37/hg19 15q24.1(chr15:74909710-74974543)x3	CLK3, EDC3	Copy number gain	not provided	GUncertain significance
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 80