ELFN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	C7orf50, CHST12 +116 more	Copy number gain	See cases	GUncertain significance
Select item 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
Select item 978031	NC_000007.14:g.1687729_1779914del	LNCRI, LOC123924889 +3 more	Deletion	ELFN1-related disorder	GUncertain significance
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	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 2407394	NM_001128636.4(ELFN1):c.7G>A (p.Gly3Arg)	ELFN1 (G3R)	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 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 770368	NM_001128636.4(ELFN1):c.42G>A (p.Ala14=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768128	NM_001128636.4(ELFN1):c.60C>T (p.His20=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 723258	NM_001128636.4(ELFN1):c.76C>T (p.Arg26Cys)	ELFN1 (R26C)	Single nucleotide variant (missense variant)	ELFN1-related disorder +1 more	GLikely benign
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 2097060	NM_001128636.4(ELFN1):c.204C>G (p.Asn68Lys)	ELFN1 (N68K)	Single nucleotide variant (missense variant)	not provided	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 3088267	NM_001128636.4(ELFN1):c.278A>G (p.Lys93Arg)	ELFN1 (K93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710659	NM_001128636.4(ELFN1):c.297C>T (p.Ile99=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724977	NM_001128636.4(ELFN1):c.303C>T (p.Asp101=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 773734	NM_001128636.4(ELFN1):c.315G>A (p.Ser105=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2472095	NM_001128636.4(ELFN1):c.332A>G (p.Gln111Arg)	ELFN1 (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750795	NM_001128636.4(ELFN1):c.474C>A (p.Ile158=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2344665	NM_001128636.4(ELFN1):c.619G>A (p.Ala207Thr)	ELFN1 (A207T)	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 781648	NM_001128636.4(ELFN1):c.684C>G (p.Gly228=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2254150	NM_001128636.4(ELFN1):c.757G>T (p.Asp253Tyr)	ELFN1 (D253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719595	NM_001128636.4(ELFN1):c.774G>A (p.Glu258=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2466601	NM_001128636.4(ELFN1):c.805C>A (p.Arg269Ser)	ELFN1 (R269S)	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 2405360	NM_001128636.4(ELFN1):c.821G>A (p.Arg274His)	ELFN1 (R274H)	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 716639	NM_001128636.4(ELFN1):c.888C>T (p.Ser296=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2392740	NM_001128636.4(ELFN1):c.940G>A (p.Glu314Lys)	ELFN1 (E314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730121	NM_001128636.4(ELFN1):c.947G>A (p.Arg316His)	ELFN1 (R316H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 709257	NM_001128636.4(ELFN1):c.1233C>T (p.Ser411=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768129	NM_001128636.4(ELFN1):c.1236C>T (p.Pro412=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2237243	NM_001128636.4(ELFN1):c.1331G>A (p.Arg444Gln)	ELFN1 (R444Q)	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 2232456	NM_001128636.4(ELFN1):c.1364C>T (p.Ser455Leu)	ELFN1 (S455L)	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 724516	NM_001128636.4(ELFN1):c.1413C>T (p.Tyr471=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724137	NM_001128636.4(ELFN1):c.1430C>T (p.Ala477Val)	ELFN1 (A477V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2349293	NM_001128636.4(ELFN1):c.1445C>T (p.Pro482Leu)	ELFN1 (P482L)	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 2317705	NM_001128636.4(ELFN1):c.1477G>A (p.Ala493Thr)	ELFN1 (A493T)	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 2490225	NM_001128636.4(ELFN1):c.1493C>G (p.Pro498Arg)	ELFN1 (P498R)	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 3088255	NM_001128636.4(ELFN1):c.1544C>T (p.Ala515Val)	ELFN1 (A515V)	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 2553086	NM_001128636.4(ELFN1):c.1600C>A (p.Pro534Thr)	ELFN1 (P534T)	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 2518223	NM_001128636.4(ELFN1):c.1627C>T (p.Arg543Trp)	ELFN1 (R543W)	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 2349619	NM_001128636.4(ELFN1):c.1634G>T (p.Gly545Val)	ELFN1 (G545V)	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 2491608	NM_001128636.4(ELFN1):c.1753G>T (p.Gly585Cys)	ELFN1 (G585C)	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 3088257	NM_001128636.4(ELFN1):c.1783G>A (p.Glu595Lys)	ELFN1 (E595K)	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 2520131	NM_001128636.4(ELFN1):c.1828G>A (p.Gly610Ser)	ELFN1 (G610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782484	NM_001128636.4(ELFN1):c.1842C>T (p.Pro614=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749077	NM_001128636.4(ELFN1):c.1854C>T (p.Asp618=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 792067	NM_001128636.4(ELFN1):c.1888G>A (p.Val630Met)	ELFN1 (V630M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2555248	NM_001128636.4(ELFN1):c.1912G>T (p.Ala638Ser)	ELFN1 (A638S)	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 2247179	NM_001128636.4(ELFN1):c.1930G>A (p.Gly644Ser)	ELFN1 (G644S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 776191	NM_001128636.4(ELFN1):c.1941C>T (p.Arg647=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 761395	NM_001128636.4(ELFN1):c.1968C>A (p.Ala656=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745380	NM_001128636.4(ELFN1):c.1971C>T (p.Val657=)	ELFN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3088259	NM_001128636.4(ELFN1):c.2024C>T (p.Pro675Leu)	ELFN1 (P675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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