ClinVar for Gene (Select 57552) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298761	NM_020792.6(NCEH1):c.266G>A (p.Gly89Asp)	NCEH1 (G89D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3298760	NM_020792.6(NCEH1):c.226T>C (p.Ser76Pro)	NCEH1 (S76P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3298759	NM_020792.6(NCEH1):c.206T>C (p.Phe69Ser)	NCEH1 (F69S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3298758	NM_020792.6(NCEH1):c.-66G>A	LOC112935910, NCEH1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3182008	NM_020792.6(NCEH1):c.29C>T (p.Ala10Val)	LOC112935910, NCEH1 (A10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181994	NM_020792.6(NCEH1):c.934A>G (p.Ile312Val)	NCEH1 (I312V +2 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	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2619253	NM_020792.6(NCEH1):c.1102G>A (p.Val368Met)	NCEH1 (V376M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588502	NM_020792.6(NCEH1):c.304G>A (p.Glu102Lys)	NCEH1 (E102K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558020	NM_020792.6(NCEH1):c.322A>G (p.Ser108Gly)	NCEH1 (S108G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519785	NM_020792.6(NCEH1):c.1184G>A (p.Arg395Gln)	NCEH1 (R262Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488677	NM_020792.6(NCEH1):c.533A>G (p.Tyr178Cys)	NCEH1 (Y186C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474810	NM_020792.6(NCEH1):c.-66G>C	LOC112935910, NCEH1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2463117	NM_020792.6(NCEH1):c.1079G>A (p.Arg360His)	NCEH1 (R227H +2 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 2407140	NM_020792.6(NCEH1):c.802G>A (p.Val268Ile)	NCEH1 (V135I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332800	NM_020792.6(NCEH1):c.941A>G (p.Gln314Arg)	NCEH1 (Q181R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307020	NM_020792.6(NCEH1):c.1166A>G (p.Asn389Ser)	NCEH1 (N256S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298885	NM_020792.6(NCEH1):c.967C>T (p.Arg323Cys)	NCEH1 (R331C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290575	NM_020792.6(NCEH1):c.382G>C (p.Asp128His)	NCEH1 (D128H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282335	NM_020792.6(NCEH1):c.854G>A (p.Arg285His)	NCEH1 (R152H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282086	NM_001146276.1(NCEH1):c.7A>C (p.Ser3Arg)	LOC112935910, NCEH1 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281312	NM_020792.6(NCEH1):c.-29A>G	LOC112935910, NCEH1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2259257	NM_020792.6(NCEH1):c.733C>T (p.Arg245Cys)	NCEH1 (R112C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239101	NM_020792.6(NCEH1):c.739G>A (p.Val247Ile)	NCEH1 (V114I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236283	NM_020792.6(NCEH1):c.776A>G (p.Asn259Ser)	NCEH1 (N126S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210019	NM_020792.6(NCEH1):c.155A>G (p.Tyr52Cys)	NCEH1 (Y52C)	Single nucleotide variant (missense variant +2 more)	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 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 780433	NM_020792.6(NCEH1):c.46G>A (p.Ala16Thr)	LOC112935910, NCEH1 (A16T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 772866	NM_020792.6(NCEH1):c.249C>T (p.Thr83=)	NCEH1	Single nucleotide variant (synonymous variant +2 more)	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	HHLA2, HIGD1A +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 394385	GRCh37/hg19 3q26.31(chr3:171852267-172413810)x3	FNDC3B, GHSR +2 more	Copy number gain	See cases	GUncertain significance
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	AADAC, AADACL2 +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	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154453	GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1	LOC112935909, LOC112935910 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 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	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 57