ClinVar for Gene (Select 7936) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3299252	NM_002904.6(NELFE):c.1007T>A (p.Leu336Gln)	NELFE (L336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	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 3192916	NM_002904.6(NELFE):c.605G>A (p.Arg202Gln)	NELFE (R202Q)	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 3192902	NM_002904.6(NELFE):c.518G>A (p.Arg173His)	NELFE (R173H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2622928	NM_002904.6(NELFE):c.1123A>G (p.Asn375Asp)	NELFE (N375D)	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 2610825	NM_002904.6(NELFE):c.664C>G (p.Arg222Gly)	NELFE (R222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2592230	NM_002904.6(NELFE):c.568C>T (p.Arg190Cys)	NELFE (R190C)	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 2539934	NM_002904.6(NELFE):c.806A>G (p.Glu269Gly)	NELFE (E269G)	Single nucleotide variant (missense variant)	not specified	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 2411918	NM_002904.6(NELFE):c.739C>T (p.Arg247Cys)	NELFE (R247C)	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 2403617	NM_002904.6(NELFE):c.629G>A (p.Arg210Gln)	NELFE (R210Q)	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 2384207	NM_002904.6(NELFE):c.517C>T (p.Arg173Cys)	NELFE (R173C)	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 2340683	NM_002904.6(NELFE):c.377G>T (p.Arg126Leu)	NELFE (R126L)	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 2273040	NM_002904.6(NELFE):c.740G>A (p.Arg247His)	NELFE (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2237221	NM_002904.6(NELFE):c.893C>T (p.Ala298Val)	NELFE (A298V)	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 2220838	NM_002904.6(NELFE):c.667G>A (p.Asp223Asn)	NELFE (D223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259467	NC_000006.12:g.31952179T>C	CFB, NELFE	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227313	NC_000006.12:g.31952140T>C	CFB, NELFE	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 784497	NM_002904.6(NELFE):c.717CCGAGA[1] (p.237DR[2])	NELFE	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 770727	NM_002904.6(NELFE):c.610CGGGATCGAGAC[1] (p.205DR[3])	NELFE	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 716866	NM_002904.6(NELFE):c.660G>A (p.Arg220=)	NELFE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711313	NM_002904.6(NELFE):c.76-6T>A	NELFE	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
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 356303	NM_006929.4(SKIC2):c.-249C>G	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 356301	NM_006929.4(SKIC2):c.-273G>A	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
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 356299	NM_006929.4(SKIC2):c.-370C>T	NELFE, SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51