586[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 3127803	NM_001640.4(APEH):c.58C>A (p.Leu20Ile)	APEH, LOC129936762 (L20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558872	NM_001640.4(APEH):c.80G>T (p.Ser27Ile)	APEH, LOC129936762 (S27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624251	NM_001640.4(APEH):c.229G>A (p.Val77Met)	APEH (V77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523579	NM_001640.4(APEH):c.266G>C (p.Arg89Pro)	APEH (R89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127802	NM_001640.4(APEH):c.323A>G (p.Lys108Arg)	APEH (K108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367313	NM_001640.4(APEH):c.334A>C (p.Thr112Pro)	APEH (T112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306474	NM_001640.4(APEH):c.335C>T (p.Thr112Met)	APEH (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548657	NM_001640.4(APEH):c.401A>G (p.Asn134Ser)	APEH (N134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653839	NM_001640.4(APEH):c.561C>T (p.Ser187=)	APEH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616810	NM_001640.4(APEH):c.567T>A (p.Asp189Glu)	APEH (D189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315853	NM_001640.4(APEH):c.727A>C (p.Asn243His)	APEH (N243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481753	NM_001640.4(APEH):c.815T>A (p.Ile272Asn)	APEH (I272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306465	NM_001640.4(APEH):c.830A>G (p.Asn277Ser)	APEH (N277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614800	NM_001640.4(APEH):c.872A>C (p.Lys291Thr)	APEH (K291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609517	NM_001640.4(APEH):c.916C>T (p.Arg306Trp)	APEH (R306W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542134	NM_001640.4(APEH):c.938G>T (p.Arg313Leu)	APEH (R313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563209	NM_001640.4(APEH):c.1062G>T (p.Glu354Asp)	APEH (E354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127798	NM_001640.4(APEH):c.1122G>C (p.Gln374His)	APEH (Q374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482784	NM_001640.4(APEH):c.1162C>G (p.Leu388Val)	APEH (L388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206489	NM_001640.4(APEH):c.1378G>A (p.Asp460Asn)	APEH (D460N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127799	NM_001640.4(APEH):c.1415C>T (p.Pro472Leu)	APEH (P472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253163	NM_001640.4(APEH):c.1433A>C (p.Gln478Pro)	APEH (Q478P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559478	NM_001640.4(APEH):c.1573C>G (p.Leu525Val)	APEH (L525V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270500	NM_001640.4(APEH):c.1579A>C (p.Lys527Gln)	APEH (K527Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336515	NM_001640.4(APEH):c.1597C>A (p.Leu533Ile)	APEH (L533I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341615	NM_001640.4(APEH):c.1724A>G (p.His575Arg)	APEH (H575R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271003	NM_001640.4(APEH):c.1727T>G (p.Phe576Cys)	APEH (F576C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127800	NM_001640.4(APEH):c.1798T>C (p.Tyr600His)	APEH (Y600H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238962	NM_001640.4(APEH):c.1846A>T (p.Ile616Phe)	APEH (I616F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653840	NM_001640.4(APEH):c.1965G>A (p.Ser655=)	APEH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375294	NM_001640.4(APEH):c.2027G>A (p.Arg676Gln)	APEH (R676Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350671	NM_001640.4(APEH):c.2078G>A (p.Arg693Gln)	APEH (R693Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127801	NM_001640.4(APEH):c.2159T>C (p.Met720Thr)	APEH (M720T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	HYAL1, HYAL2 +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	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 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 42