ClinVar for Gene (Select 1894) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087100	NM_001258315.2(ECT2):c.949A>G (p.Ile317Val)	ECT2 (I316V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087099	NM_001258315.2(ECT2):c.2496G>T (p.Lys832Asn)	ECT2 (K800N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087098	NM_001258315.2(ECT2):c.1984C>G (p.Pro662Ala)	ECT2 (P630A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087097	NM_001258315.2(ECT2):c.1156A>G (p.Thr386Ala)	ECT2 (T355A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087096	NM_001258315.2(ECT2):c.1142G>A (p.Arg381His)	ECT2 (R350H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062706	GRCh37/hg19 3q26.31(chr3:172382427-173592368)x3	ECT2, NCEH1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685937	GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2615624	NM_001258315.2(ECT2):c.527T>C (p.Met176Thr)	ECT2 (M176T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610244	NM_001258315.2(ECT2):c.710T>A (p.Ile237Asn)	ECT2 (I237N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605666	NM_001258315.2(ECT2):c.1237A>G (p.Ile413Val)	ECT2 (I381V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556460	NM_001258315.2(ECT2):c.1102A>G (p.Met368Val)	ECT2 (M367V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551982	NM_001258315.2(ECT2):c.2023C>T (p.Arg675Trp)	ECT2 (R615W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522994	NM_001258315.2(ECT2):c.1204C>T (p.Arg402Cys)	ECT2 (H371Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516642	NM_001258315.2(ECT2):c.1286A>G (p.Tyr429Cys)	ECT2 (Y398C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493453	NM_001258315.2(ECT2):c.2648C>T (p.Ser883Leu)	ECT2 (S852L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467899	NM_001258315.2(ECT2):c.1562A>G (p.Asp521Gly)	ECT2 (D521G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462186	NM_001258315.2(ECT2):c.1579G>A (p.Asp527Asn)	ECT2 (D467N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2390006	NM_001258315.2(ECT2):c.2596A>T (p.Ser866Cys)	ECT2 (S806C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385098	NM_001258315.2(ECT2):c.2117A>G (p.Lys706Arg)	ECT2 (K646R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349732	NM_001258315.2(ECT2):c.1174A>G (p.Arg392Gly)	ECT2 (R391G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321567	NM_001258315.2(ECT2):c.521C>T (p.Thr174Ile)	ECT2 (T143I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321438	NM_001258315.2(ECT2):c.2107A>T (p.Ile703Leu)	ECT2 (I703L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320705	NM_001258315.2(ECT2):c.1861A>G (p.Lys621Glu)	ECT2 (K621E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302235	NM_001258315.2(ECT2):c.629T>G (p.Phe210Cys)	ECT2 (F209C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300889	NM_001258315.2(ECT2):c.2024G>A (p.Arg675Gln)	ECT2 (R615Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297897	NM_001258315.2(ECT2):c.2612A>C (p.Asp871Ala)	ECT2 (D839A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288908	NM_001258315.2(ECT2):c.972A>T (p.Glu324Asp)	ECT2 (E292D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257101	NM_001258315.2(ECT2):c.1349A>C (p.Gln450Pro)	ECT2 (Q449P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238610	NM_001258315.2(ECT2):c.581G>T (p.Arg194Met)	ECT2 (R162M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235669	NM_001258315.2(ECT2):c.2735A>G (p.His912Arg)	ECT2 (H880R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215504	NM_001258315.2(ECT2):c.497T>G (p.Phe166Cys)	ECT2 (F165C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213901	NM_001258315.2(ECT2):c.2548G>A (p.Ala850Thr)	ECT2 (A819T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808175	GRCh37/hg19 3q26.31(chr3:172266023-172500533)x3	ECT2, NCEH1	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340610	GRCh37/hg19 3q26.31(chr3:172248537-172772035)x3	ECT2, NCEH1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 980549	GRCh37/hg19 3q26.31(chr3:172521399-172794826)x3	SPATA16, ECT2	Copy number gain	not provided	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 775928	NM_001258315.2(ECT2):c.1443A>G (p.Pro481=)	ECT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687021	GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 221435	GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3	ECT2, FNDC3B +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154453	GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1	ECT2, FNDC3B +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61