ADIPOQ-AS1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 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 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 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 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +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	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +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	LOC110121069, LOC110121110 +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 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)	ADIPOQ-related disorder +1 more	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 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 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

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Items: 35