HIF1AN[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 3105824	NM_017902.3(HIF1AN):c.73C>G (p.Pro25Ala)	HIF1AN (P25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267570	NM_017902.3(HIF1AN):c.391A>C (p.Lys131Gln)	HIF1AN (K131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302750	NM_017902.3(HIF1AN):c.400G>T (p.Asp134Tyr)	HIF1AN (D134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273233	NM_017902.3(HIF1AN):c.448C>T (p.Leu150Phe)	HIF1AN (L150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326494	NM_017902.3(HIF1AN):c.571A>G (p.Met191Val)	HIF1AN (M191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407518	NM_017902.3(HIF1AN):c.916A>G (p.Ile306Val)	HIF1AN (I306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2684617	GRCh37/hg19 10q24.31(chr10:102205412-102516321)x3	HIF1AN, NDUFB8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424804	NC_000010.10:g.(?_102283594)_(102510668_?)del	HIF1AN, NDUFB8 +1 more	Deletion	Renal coloboma syndrome +1 more	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 815373	GRCh37/hg19 10q24.31(chr10:101932457-102392841)x3	WNT8B, NDUFB8 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 24