13633[HGNC] - ClinVar

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Items: 71

	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 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 235098	NM_001177800.1(ADIPOQ):c.-1095G>T	ADIPOQ, LOC106660625	Single nucleotide variant	Adiponectin deficiency	Grisk factor
Select item 721271	NM_004797.4(ADIPOQ):c.24_26del (p.Leu11del)	ADIPOQ, ADIPOQ-AS1 (L11del)	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 452713	NM_004797.4(ADIPOQ):c.42del (p.Gly15fs)	ADIPOQ, ADIPOQ-AS1 (G15fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3060531	NM_004797.4(ADIPOQ):c.45T>G (p.Gly15=)	ADIPOQ, ADIPOQ-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ADIPOQ-related disorder	GBenign
Select item 725273	NM_004797.4(ADIPOQ):c.113G>A (p.Gly38Asp)	ADIPOQ, ADIPOQ-AS1 (G38D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1189919	NM_004797.4(ADIPOQ):c.133G>C (p.Gly45Arg)	ADIPOQ, ADIPOQ-AS1 (G45R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 451856	NM_004797.4(ADIPOQ):c.191A>G (p.Glu64Gly)	ADIPOQ, ADIPOQ-AS1 (E64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730481	NM_004797.4(ADIPOQ):c.249C>T (p.Thr83=)	ADIPOQ, ADIPOQ-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2527928	NM_004797.4(ADIPOQ):c.257C>T (p.Pro86Leu)	ADIPOQ, ADIPOQ-AS1 (P86L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 789279	NM_004797.4(ADIPOQ):c.268G>A (p.Gly90Ser)	ADIPOQ, ADIPOQ-AS1 (G90S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3046662	NM_004797.4(ADIPOQ):c.273C>A (p.Pro91=)	ADIPOQ, ADIPOQ-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ADIPOQ-related disorder	GLikely benign
Select item 2501708	NM_004797.4(ADIPOQ):c.276_285del (p.Gly93fs)	ADIPOQ, ADIPOQ-AS1 (G93fs)	Deletion (non-coding transcript variant +1 more)	Adiponectin deficiency	GPathogenic
Select item 3089404	NM_004797.4(ADIPOQ):c.284C>T (p.Pro95Leu)	ADIPOQ, ADIPOQ-AS1 (P95L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3046117	NM_004797.4(ADIPOQ):c.288A>T (p.Gly96=)	ADIPOQ, ADIPOQ-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ADIPOQ-related disorder	GLikely benign
Select item 3089405	NM_004797.4(ADIPOQ):c.313G>A (p.Gly105Arg)	ADIPOQ, ADIPOQ-AS1 (G105R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3042029	NM_004797.4(ADIPOQ):c.331T>C (p.Tyr111His)	ADIPOQ, ADIPOQ-AS1 (Y111H)	Single nucleotide variant (non-coding transcript variant +1 more)	ADIPOQ-related disorder	GBenign
Select item 4990	NM_004797.4(ADIPOQ):c.334C>T (p.Arg112Cys)	ADIPOQ, ADIPOQ-AS1 (R112C)	Single nucleotide variant (non-coding transcript variant +1 more)	Adiponectin deficiency	GPathogenic
Select item 3089408	NM_004797.4(ADIPOQ):c.347G>A (p.Ser116Asn)	ADIPOQ, ADIPOQ-AS1 (S116N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3353003	NM_004797.4(ADIPOQ):c.525C>G (p.Leu175=)	ADIPOQ, ADIPOQ-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ADIPOQ-related disorder	GLikely benign
Select item 3273169	NM_004797.4(ADIPOQ):c.620T>G (p.Val207Gly)	ADIPOQ, ADIPOQ-AS1 (V207G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2654342	NM_004797.4(ADIPOQ):c.658G>T (p.Glu220Ter)	ADIPOQ, ADIPOQ-AS1 (E220*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2216533	NM_004797.4(ADIPOQ):c.662G>A (p.Arg221His)	ADIPOQ, ADIPOQ-AS1 (R221H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3273159	NM_004797.4(ADIPOQ):c.687C>A (p.Asp229Glu)	ADIPOQ, ADIPOQ-AS1 (D229E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2204320	NM_004797.4(ADIPOQ):c.731A>T (p.Asn244Ile)	ADIPOQ, ADIPOQ-AS1 (N244I)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1340079	GRCh37/hg19 3q27.3(chr3:186507766-186640870)x3	ADIPOQ, RFC4	Copy number gain	not provided	GLikely benign
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 980556	GRCh37/hg19 3q27.3(chr3:186493742-186668140)x3	SNORA81, ADIPOQ +4 more	Copy number gain	not provided	GLikely benign
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 688039	GRCh37/hg19 3q27.3(chr3:186493742-186672011)x3	ADIPOQ, EIF4A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686708	GRCh37/hg19 3q27.3(chr3:186493742-186672007)x3	ADIPOQ, EIF4A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 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: 71