ENC1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 2393216	NM_003633.4(ENC1):c.1748C>T (p.Thr583Ile)	ENC1 (T583I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283645	NM_003633.4(ENC1):c.979C>G (p.Pro327Ala)	ENC1 (P254A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536949	NM_003633.4(ENC1):c.866G>A (p.Arg289Gln)	ENC1 (R216Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310780	NM_003633.4(ENC1):c.782A>G (p.Lys261Arg)	ENC1 (K261R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479093	NM_003633.4(ENC1):c.734A>G (p.Tyr245Cys)	ENC1 (Y172C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391520	NM_003633.4(ENC1):c.539G>C (p.Arg180Thr)	ENC1 (R107T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044516	NM_003633.4(ENC1):c.417C>G (p.Phe139Leu)	ENC1 (F139L +1 more)	Single nucleotide variant (missense variant)	ENC1-related condition	GUncertain significance
Select item 2545521	NM_003633.4(ENC1):c.272A>G (p.Asn91Ser)	ENC1 (N18S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361996	NM_003633.4(ENC1):c.112C>A (p.Leu38Ile)	ENC1 (L38I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275041	NM_003633.4(ENC1):c.46G>A (p.Gly16Ser)	ENC1 (G16S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1290799	NM_003633.4(ENC1):c.-5A>G	ENC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3883	NC_000005.10:g.(?_74640023)_(74705321_74713505)del	ENC1, HEXB +7 more	Deletion	Sandhoff disease, infantile form	GPathogenic
Select item 3062857	GRCh37/hg19 5q13.2-13.3(chr5:73287775-74043181)x1	ENC1, GFM2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2684419	GRCh37/hg19 5q13.3(chr5:73484420-73939481)x3	ENC1	Copy number gain	not provided	GUncertain significance
Select item 814694	GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3	ANKRA2, FAM169A +6 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 21