ClinVar for Gene (Select 392617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275137	NM_001128636.4(ELFN1):c.1552C>T (p.Pro518Ser)	ELFN1 (P518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275136	NM_001128636.4(ELFN1):c.1855G>A (p.Ala619Thr)	ELFN1 (A619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275135	NM_001128636.4(ELFN1):c.356G>A (p.Arg119Gln)	ELFN1 (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275134	NM_001128636.4(ELFN1):c.719G>A (p.Arg240His)	ELFN1 (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275133	NM_001128636.4(ELFN1):c.1882C>A (p.His628Asn)	ELFN1 (H628N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275132	NM_001128636.4(ELFN1):c.1118C>T (p.Thr373Met)	ELFN1 (T373M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088272	NM_001128636.4(ELFN1):c.830C>T (p.Pro277Leu)	ELFN1 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088271	NM_001128636.4(ELFN1):c.820C>T (p.Arg274Cys)	ELFN1 (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088270	NM_001128636.4(ELFN1):c.800C>T (p.Ser267Phe)	ELFN1 (S267F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088269	NM_001128636.4(ELFN1):c.77G>T (p.Arg26Leu)	ELFN1 (R26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088268	NM_001128636.4(ELFN1):c.323T>C (p.Phe108Ser)	ELFN1 (F108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088267	NM_001128636.4(ELFN1):c.278A>G (p.Lys93Arg)	ELFN1 (K93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088264	NM_001128636.4(ELFN1):c.2236C>T (p.Arg746Cys)	ELFN1 (R746C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088263	NM_001128636.4(ELFN1):c.2195G>A (p.Arg732His)	ELFN1 (R732H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088262	NM_001128636.4(ELFN1):c.2173C>G (p.Pro725Ala)	ELFN1 (P725A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088261	NM_001128636.4(ELFN1):c.2081C>A (p.Ala694Asp)	ELFN1 (A694D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088260	NM_001128636.4(ELFN1):c.2066T>C (p.Val689Ala)	ELFN1 (V689A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088259	NM_001128636.4(ELFN1):c.2024C>T (p.Pro675Leu)	ELFN1 (P675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088258	NM_001128636.4(ELFN1):c.1787C>T (p.Pro596Leu)	ELFN1 (P596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088257	NM_001128636.4(ELFN1):c.1783G>A (p.Glu595Lys)	ELFN1 (E595K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088256	NM_001128636.4(ELFN1):c.1601C>T (p.Pro534Leu)	ELFN1 (P534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088255	NM_001128636.4(ELFN1):c.1544C>T (p.Ala515Val)	ELFN1 (A515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088254	NM_001128636.4(ELFN1):c.1486C>T (p.Arg496Cys)	ELFN1 (R496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088253	NM_001128636.4(ELFN1):c.1402G>A (p.Glu468Lys)	ELFN1 (E468K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088252	NM_001128636.4(ELFN1):c.1303G>A (p.Ala435Thr)	ELFN1 (A435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088251	NM_001128636.4(ELFN1):c.1046A>G (p.Asn349Ser)	ELFN1 (N349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062959	GRCh37/hg19 7p22.3(chr7:43360-2020306)x1	ADAP1, C7orf50 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685228	GRCh37/hg19 7p22.3(chr7:1775509-1905919)x1	ELFN1, MAD1L1	Copy number loss	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657220	NM_001128636.4(ELFN1):c.-1G>A	ELFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2608477	NM_001128636.4(ELFN1):c.2085G>C (p.Glu695Asp)	ELFN1 (E695D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601787	NM_001128636.4(ELFN1):c.37G>A (p.Val13Met)	ELFN1 (V13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599976	NM_001128636.4(ELFN1):c.707G>A (p.Arg236His)	ELFN1 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596398	NM_001128636.4(ELFN1):c.1724C>T (p.Ala575Val)	ELFN1 (A575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556859	NM_001128636.4(ELFN1):c.2213A>T (p.Glu738Val)	ELFN1 (E738V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555248	NM_001128636.4(ELFN1):c.1912G>T (p.Ala638Ser)	ELFN1 (A638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553086	NM_001128636.4(ELFN1):c.1600C>A (p.Pro534Thr)	ELFN1 (P534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551298	NM_001128636.4(ELFN1):c.2155C>T (p.Pro719Ser)	ELFN1 (P719S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520131	NM_001128636.4(ELFN1):c.1828G>A (p.Gly610Ser)	ELFN1 (G610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518252	NM_001128636.4(ELFN1):c.1628G>A (p.Arg543Gln)	ELFN1 (R543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518223	NM_001128636.4(ELFN1):c.1627C>T (p.Arg543Trp)	ELFN1 (R543W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491608	NM_001128636.4(ELFN1):c.1753G>T (p.Gly585Cys)	ELFN1 (G585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490225	NM_001128636.4(ELFN1):c.1493C>G (p.Pro498Arg)	ELFN1 (P498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490138	NM_001128636.4(ELFN1):c.2083G>A (p.Glu695Lys)	ELFN1 (E695K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480862	NM_001128636.4(ELFN1):c.304G>A (p.Gly102Ser)	ELFN1 (G102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479544	NM_001128636.4(ELFN1):c.236C>T (p.Ser79Leu)	ELFN1 (S79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472095	NM_001128636.4(ELFN1):c.332A>G (p.Gln111Arg)	ELFN1 (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467728	NM_001128636.4(ELFN1):c.67G>A (p.Gly23Ser)	ELFN1 (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466601	NM_001128636.4(ELFN1):c.805C>A (p.Arg269Ser)	ELFN1 (R269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454215	NM_001128636.4(ELFN1):c.1435G>C (p.Gly479Arg)	ELFN1 (G479R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408260	NM_001128636.4(ELFN1):c.1958G>A (p.Arg653Gln)	ELFN1 (R653Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407394	NM_001128636.4(ELFN1):c.7G>A (p.Gly3Arg)	ELFN1 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405360	NM_001128636.4(ELFN1):c.821G>A (p.Arg274His)	ELFN1 (R274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392740	NM_001128636.4(ELFN1):c.940G>A (p.Glu314Lys)	ELFN1 (E314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385448	NM_001128636.4(ELFN1):c.913G>T (p.Ala305Ser)	ELFN1 (A305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356444	NM_001128636.4(ELFN1):c.1922C>T (p.Ser641Leu)	ELFN1 (S641L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355800	NM_001128636.4(ELFN1):c.2135C>T (p.Pro712Leu)	ELFN1 (P712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349619	NM_001128636.4(ELFN1):c.1634G>T (p.Gly545Val)	ELFN1 (G545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349293	NM_001128636.4(ELFN1):c.1445C>T (p.Pro482Leu)	ELFN1 (P482L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344665	NM_001128636.4(ELFN1):c.619G>A (p.Ala207Thr)	ELFN1 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317705	NM_001128636.4(ELFN1):c.1477G>A (p.Ala493Thr)	ELFN1 (A493T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301075	NM_001128636.4(ELFN1):c.1598C>T (p.Pro533Leu)	ELFN1 (P533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282628	NM_001128636.4(ELFN1):c.1763C>T (p.Ser588Leu)	ELFN1 (S588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279295	NM_001128636.4(ELFN1):c.2194C>T (p.Arg732Cys)	ELFN1 (R732C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258550	NM_001128636.4(ELFN1):c.1904C>A (p.Pro635His)	ELFN1 (P635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254150	NM_001128636.4(ELFN1):c.757G>T (p.Asp253Tyr)	ELFN1 (D253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247179	NM_001128636.4(ELFN1):c.1930G>A (p.Gly644Ser)	ELFN1 (G644S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237243	NM_001128636.4(ELFN1):c.1331G>A (p.Arg444Gln)	ELFN1 (R444Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236409	NM_001128636.4(ELFN1):c.532G>A (p.Gly178Ser)	ELFN1 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232456	NM_001128636.4(ELFN1):c.1364C>T (p.Ser455Leu)	ELFN1 (S455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232043	NM_001128636.4(ELFN1):c.1466T>G (p.Leu489Arg)	ELFN1 (L489R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229916	NM_001128636.4(ELFN1):c.665C>T (p.Ser222Leu)	ELFN1 (S222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222854	NM_001128636.4(ELFN1):c.2129C>G (p.Ser710Cys)	ELFN1 (S710C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219174	NM_001128636.4(ELFN1):c.1877G>A (p.Arg626Gln)	ELFN1 (R626Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210603	NM_001128636.4(ELFN1):c.1543G>A (p.Ala515Thr)	ELFN1 (A515T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210416	NM_001128636.4(ELFN1):c.2003A>G (p.Lys668Arg)	ELFN1 (K668R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210316	NM_001128636.4(ELFN1):c.1333C>T (p.Arg445Cys)	ELFN1 (R445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2097060	NM_001128636.4(ELFN1):c.204C>G (p.Asn68Lys)	ELFN1 (N68K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807649	GRCh37/hg19 7p22.3(chr7:1316239-1781553)x1	ELFN1, INTS1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341235	GRCh37/hg19 7p22.3(chr7:1330065-1821278)x3	ELFN1, INTS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340418	GRCh37/hg19 7p22.3(chr7:989697-2138529)x3	ADAP1, C7orf50 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1048758	NM_001128636.4(ELFN1):c.42_49del (p.Ala15fs)	ELFN1 (A15fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 980820	GRCh37/hg19 7p22.3(chr7:967185-1781553)x3	ADAP1, C7orf50 +12 more	Copy number gain	not provided	GUncertain significance
Select item 978031	NC_000007.14:g.1687729_1779914del	LNCRI, LOC123924889 +3 more	Deletion	ELFN1-related disorder	GUncertain significance
Select item 816483	GRCh37/hg19 7p22.3(chr7:44935-1750797)x1	TMEM184A, GET4 +18 more	Copy number loss	See cases	GPathogenic
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 814913	GRCh37/hg19 7p22.3(chr7:1108122-1812800)x3	ZFAND2A, C7orf50 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814912	GRCh37/hg19 7p22.3(chr7:1065860-1812800)x3	GPR146, PSMG3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 792067	NM_001128636.4(ELFN1):c.1888G>A (p.Val630Met)	ELFN1 (V630M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789754	NM_001128636.4(ELFN1):c.2469G>A (p.Ser823=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782484	NM_001128636.4(ELFN1):c.1842C>T (p.Pro614=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781648	NM_001128636.4(ELFN1):c.684C>G (p.Gly228=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776191	NM_001128636.4(ELFN1):c.1941C>T (p.Arg647=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773734	NM_001128636.4(ELFN1):c.315G>A (p.Ser105=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770368	NM_001128636.4(ELFN1):c.42G>A (p.Ala14=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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