HEMGN[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 2538609	NM_197978.3(HEMGN):c.1388C>G (p.Pro463Arg)	HEMGN (P463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458592	NM_197978.3(HEMGN):c.1352T>C (p.Phe451Ser)	HEMGN (F451S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307420	NM_197978.3(HEMGN):c.1351T>C (p.Phe451Leu)	HEMGN (F451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773912	NM_197978.3(HEMGN):c.1347T>C (p.Tyr449=)	HEMGN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2515428	NM_197978.3(HEMGN):c.1232A>G (p.Glu411Gly)	HEMGN (E411G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284003	NM_197978.3(HEMGN):c.1205C>T (p.Thr402Ile)	HEMGN (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105224	NM_197978.3(HEMGN):c.1154A>G (p.Tyr385Cys)	HEMGN (Y385C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529121	NM_197978.3(HEMGN):c.1114C>A (p.Gln372Lys)	HEMGN (Q372K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105223	NM_197978.3(HEMGN):c.1109C>T (p.Thr370Met)	HEMGN (T370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284001	NM_197978.3(HEMGN):c.1084G>C (p.Gly362Arg)	HEMGN (G362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622040	NM_197978.3(HEMGN):c.1081C>A (p.Pro361Thr)	HEMGN (P361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778034	NM_197978.3(HEMGN):c.1029C>A (p.Ile343=)	HEMGN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409093	NM_197978.3(HEMGN):c.1009G>A (p.Ala337Thr)	HEMGN (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310262	NM_197978.3(HEMGN):c.950A>C (p.Glu317Ala)	HEMGN (E317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234328	NM_197978.3(HEMGN):c.946C>G (p.Gln316Glu)	HEMGN (Q316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317106	NM_197978.3(HEMGN):c.903A>G (p.Ile301Met)	HEMGN (I301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282671	NM_197978.3(HEMGN):c.855T>G (p.Asn285Lys)	HEMGN (N285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105228	NM_197978.3(HEMGN):c.836C>A (p.Ala279Glu)	HEMGN (A279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614927	NM_197978.3(HEMGN):c.639C>G (p.Asp213Glu)	HEMGN (D213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246065	NM_197978.3(HEMGN):c.559T>C (p.Ser187Pro)	HEMGN (S187P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105227	NM_197978.3(HEMGN):c.521C>A (p.Pro174His)	HEMGN (P174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383576	NM_197978.3(HEMGN):c.400T>C (p.Ser134Pro)	HEMGN (S134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105226	NM_197978.3(HEMGN):c.392A>C (p.Glu131Ala)	HEMGN (E131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274567	NM_197978.3(HEMGN):c.371C>T (p.Pro124Leu)	HEMGN (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347333	NM_197978.3(HEMGN):c.332C>G (p.Pro111Arg)	HEMGN (P111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536547	NM_197978.3(HEMGN):c.304G>A (p.Ala102Thr)	HEMGN (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105225	NM_197978.3(HEMGN):c.223G>T (p.Gly75Cys)	HEMGN (G75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568899	NM_197978.3(HEMGN):c.217C>G (p.Arg73Gly)	HEMGN (R73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284002	NM_197978.3(HEMGN):c.64G>A (p.Glu22Lys)	HEMGN (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105222	NM_197978.3(HEMGN):c.10G>A (p.Gly4Arg)	HEMGN (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2425182	NC_000009.11:g.(?_100190748)_(103062956_?)dup	ALG2, ANKS6 +22 more	Duplication	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1459792	NC_000009.11:g.(?_100190748)_(103062956_?)del	SEC61B, STX17 +22 more	Deletion	Nephronophthisis	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1339997	GRCh37/hg19 9q22.33(chr9:100663411-100722993)x1	HEMGN, TRMO	Copy number loss	not provided	GLikely benign
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 832760	NC_000009.12:g.(?_97428446)_(98796511_?)dup	ANKS6, ANP32B +13 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 442750	GRCh37/hg19 9q22.33(chr9:100625192-102129138)x1	ALG2, ANKS6 +12 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 67