3658[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
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 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 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 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 3094503	NM_014375.3(FETUB):c.44G>A (p.Cys15Tyr)	FETUB (C15Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 775931	NM_014375.3(FETUB):c.48C>G (p.Cys16Trp)	FETUB (C16W)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2366869	NM_014375.3(FETUB):c.49G>A (p.Gly17Arg)	FETUB (G17R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543012	NM_014375.3(FETUB):c.65C>A (p.Pro22His)	FETUB (P22H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 775932	NM_014375.3(FETUB):c.66C>A (p.Pro22=)	FETUB	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3278535	NM_014375.3(FETUB):c.86C>T (p.Ser29Leu)	FETUB (S29L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2517759	NM_014375.3(FETUB):c.110A>T (p.Asn37Ile)	FETUB (N37I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094500	NM_014375.3(FETUB):c.133G>A (p.Ala45Thr)	FETUB (A45T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094501	NM_014375.3(FETUB):c.205G>A (p.Asp69Asn)	FETUB (D69N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3094502	NM_014375.3(FETUB):c.209C>T (p.Ala70Val)	FETUB (A70V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2352153	NM_014375.3(FETUB):c.227G>A (p.Gly76Asp)	FETUB (G76D)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2618900	NM_014375.3(FETUB):c.295A>G (p.Lys99Glu)	FETUB (K99E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597728	NM_014375.3(FETUB):c.314G>A (p.Gly105Glu)	FETUB (G105E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 775933	NM_014375.3(FETUB):c.336+8C>T	FETUB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3278534	NM_014375.3(FETUB):c.380G>A (p.Ser127Asn)	FETUB, HRG-AS1 (S127N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254070	NM_014375.3(FETUB):c.401C>T (p.Ala134Val)	FETUB, HRG-AS1 (A134V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352728	NM_014375.3(FETUB):c.419G>A (p.Arg140His)	FETUB, HRG-AS1 (R103H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278536	NM_014375.3(FETUB):c.472A>T (p.Ile158Leu)	FETUB, HRG-AS1 (I10L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094504	NM_014375.3(FETUB):c.509C>T (p.Ala170Val)	FETUB, HRG-AS1 (A105V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370606	NM_014375.3(FETUB):c.517G>A (p.Glu173Lys)	FETUB, HRG-AS1 (E136K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654335	NM_014375.3(FETUB):c.528G>A (p.Ala176=)	FETUB, HRG-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728766	NM_014375.3(FETUB):c.543G>A (p.Glu181=)	FETUB, HRG-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769620	NM_014375.3(FETUB):c.627C>T (p.Tyr209=)	FETUB, HRG-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711410	NM_014375.3(FETUB):c.728G>A (p.Arg243Gln)	FETUB, HRG-AS1 (R178Q +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3094506	NM_014375.3(FETUB):c.745T>A (p.Phe249Ile)	FETUB, HRG-AS1 (F212I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472449	NM_014375.3(FETUB):c.749T>C (p.Val250Ala)	FETUB, HRG-AS1 (V102A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613984	NM_014375.3(FETUB):c.787G>T (p.Ala263Ser)	FETUB, HRG-AS1 (A226S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094507	NM_014375.3(FETUB):c.871C>G (p.Pro291Ala)	FETUB, HRG-AS1 (P291A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295086	NM_014375.3(FETUB):c.871C>A (p.Pro291Thr)	FETUB, HRG-AS1 (P291T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775934	NM_014375.3(FETUB):c.936T>C (p.Asp312=)	FETUB, HRG-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2522791	NM_014375.3(FETUB):c.995C>T (p.Thr332Met)	FETUB, HRG-AS1 (T227M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094498	NM_014375.3(FETUB):c.1091G>A (p.Arg364His)	FETUB, HRG-AS1 (R259H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094499	NM_014375.3(FETUB):c.1111C>G (p.Pro371Ala)	FETUB, HRG-AS1 (P266A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476267	NM_014375.3(FETUB):c.1112C>T (p.Pro371Leu)	FETUB, HRG-AS1 (P371L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
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 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527065	GRCh37/hg19 3q27.3(chr3:186149060-186599706)	ADIPOQ, AHSG +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 531899	NC_000003.11:g.(?_186256465)_(186980528_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
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 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	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 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 75