NELFE[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 1227313	NC_000006.12:g.31952140T>C	CFB, NELFE	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259467	NC_000006.12:g.31952179T>C	CFB, NELFE	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2622928	NM_002904.6(NELFE):c.1123A>G (p.Asn375Asp)	NELFE (N375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299253	NM_002904.6(NELFE):c.1102A>G (p.Ser368Gly)	NELFE (S368G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221611	NM_002904.6(NELFE):c.1075C>T (p.Arg359Trp)	NELFE (R359W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299252	NM_002904.6(NELFE):c.1007T>A (p.Leu336Gln)	NELFE (L336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192950	NM_002904.6(NELFE):c.985A>G (p.Ile329Val)	NELFE (I329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237221	NM_002904.6(NELFE):c.893C>T (p.Ala298Val)	NELFE (A298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539934	NM_002904.6(NELFE):c.806A>G (p.Glu269Gly)	NELFE (E269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621753	NM_002904.6(NELFE):c.805G>A (p.Glu269Lys)	NELFE (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363258	NM_002904.6(NELFE):c.791T>C (p.Leu264Pro)	NELFE (L264P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273040	NM_002904.6(NELFE):c.740G>A (p.Arg247His)	NELFE (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411918	NM_002904.6(NELFE):c.739C>T (p.Arg247Cys)	NELFE (R247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784497	NM_002904.6(NELFE):c.717CCGAGA[1] (p.237DR[2])	NELFE	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2597949	NM_002904.6(NELFE):c.701G>A (p.Arg234Gln)	NELFE (R234Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220838	NM_002904.6(NELFE):c.667G>A (p.Asp223Asn)	NELFE (D223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610825	NM_002904.6(NELFE):c.664C>G (p.Arg222Gly)	NELFE (R222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716866	NM_002904.6(NELFE):c.660G>A (p.Arg220=)	NELFE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257596	NM_002904.6(NELFE):c.646C>T (p.Arg216Trp)	NELFE (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770727	NM_002904.6(NELFE):c.610CGGGATCGAGAC[1] (p.205DR[3])	NELFE	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2403617	NM_002904.6(NELFE):c.629G>A (p.Arg210Gln)	NELFE (R210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192916	NM_002904.6(NELFE):c.605G>A (p.Arg202Gln)	NELFE (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592230	NM_002904.6(NELFE):c.568C>T (p.Arg190Cys)	NELFE (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411172	NM_002904.6(NELFE):c.563G>A (p.Arg188Gln)	NELFE (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192908	NM_002904.6(NELFE):c.547C>G (p.Pro183Ala)	NELFE (P183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400359	NM_002904.6(NELFE):c.524G>A (p.Gly175Asp)	NELFE (G175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192902	NM_002904.6(NELFE):c.518G>A (p.Arg173His)	NELFE (R173H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384207	NM_002904.6(NELFE):c.517C>T (p.Arg173Cys)	NELFE (R173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547805	NM_002904.6(NELFE):c.495C>A (p.Ser165Arg)	NELFE (S165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192892	NM_002904.6(NELFE):c.491G>A (p.Arg164Gln)	NELFE (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192890	NM_002904.6(NELFE):c.425G>A (p.Arg142Gln)	NELFE (R142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340683	NM_002904.6(NELFE):c.377G>T (p.Arg126Leu)	NELFE (R126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192885	NM_002904.6(NELFE):c.376C>T (p.Arg126Cys)	NELFE (R126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192883	NM_002904.6(NELFE):c.335G>T (p.Arg112Met)	NELFE (R112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296054	NM_002904.6(NELFE):c.143G>A (p.Arg48His)	NELFE (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711313	NM_002904.6(NELFE):c.76-6T>A	NELFE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 356299	NM_006929.4(SKIC2):c.-370C>T	NELFE, SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 356300	NM_006929.4(SKIC2):c.-280G>T	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 356301	NM_006929.4(SKIC2):c.-273G>A	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356302	NM_006929.4(SKIC2):c.-269T>C	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356303	NM_006929.4(SKIC2):c.-249C>G	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356304	NM_006929.4(SKIC2):c.-224G>A	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51