ClinVar for Gene (Select 114794) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275143	NM_052906.5(ELFN2):c.2071G>A (p.Gly691Ser)	ELFN2 (G691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275142	NM_052906.5(ELFN2):c.1628A>G (p.Lys543Arg)	ELFN2 (K543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275141	NM_052906.5(ELFN2):c.2008C>G (p.Leu670Val)	ELFN2 (L670V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275140	NM_052906.5(ELFN2):c.1400T>C (p.Val467Ala)	ELFN2 (V467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275138	NM_052906.5(ELFN2):c.1399G>A (p.Val467Ile)	ELFN2 (V467I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088285	NM_052906.5(ELFN2):c.737G>A (p.Arg246Gln)	ELFN2 (R246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088283	NM_052906.5(ELFN2):c.361G>A (p.Gly121Ser)	ELFN2 (G121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088282	NM_052906.5(ELFN2):c.2342G>A (p.Arg781Gln)	ELFN2 (R781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088281	NM_052906.5(ELFN2):c.2290G>C (p.Glu764Gln)	ELFN2 (E764Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088280	NM_052906.5(ELFN2):c.2218G>A (p.Asp740Asn)	ELFN2 (D740N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088279	NM_052906.5(ELFN2):c.2140G>A (p.Ala714Thr)	ELFN2 (A714T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088278	NM_052906.5(ELFN2):c.1547G>C (p.Arg516Pro)	ELFN2 (R516P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088277	NM_052906.5(ELFN2):c.1528G>A (p.Gly510Ser)	ELFN2 (G510S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088276	NM_052906.5(ELFN2):c.1338T>A (p.Asp446Glu)	ELFN2 (D446E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088275	NM_052906.5(ELFN2):c.1219G>A (p.Gly407Ser)	ELFN2 (G407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088274	NM_052906.5(ELFN2):c.1216T>G (p.Phe406Val)	ELFN2 (F406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088273	NM_052906.5(ELFN2):c.1081G>T (p.Val361Leu)	ELFN2 (V361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068071	NM_052906.5(ELFN2):c.1876C>T (p.Arg626Cys)	ELFN2 (R626C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2610246	NM_052906.5(ELFN2):c.1279G>C (p.Glu427Gln)	ELFN2 (E427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554243	NM_052906.5(ELFN2):c.1945G>C (p.Asp649His)	ELFN2 (D649H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518651	NM_052906.5(ELFN2):c.1565C>T (p.Pro522Leu)	ELFN2 (P522L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512802	NM_052906.5(ELFN2):c.787A>C (p.Thr263Pro)	ELFN2 (T263P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488257	NM_052906.5(ELFN2):c.2180G>A (p.Arg727His)	ELFN2 (R727H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473758	NM_052906.5(ELFN2):c.1847G>A (p.Arg616His)	ELFN2 (R616H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454983	NM_052906.5(ELFN2):c.656G>A (p.Arg219Gln)	ELFN2 (R219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2410086	NM_052906.5(ELFN2):c.2123A>G (p.His708Arg)	ELFN2 (H708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400880	NM_052906.5(ELFN2):c.2206C>T (p.Arg736Cys)	ELFN2 (R736C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363737	NM_052906.5(ELFN2):c.62G>A (p.Arg21His)	ELFN2 (R21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351966	NM_052906.5(ELFN2):c.1531G>A (p.Gly511Arg)	ELFN2 (G511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343028	NM_052906.5(ELFN2):c.778C>T (p.Pro260Ser)	ELFN2 (P260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315586	NM_052906.5(ELFN2):c.466A>C (p.Ile156Leu)	ELFN2 (I156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314827	NM_052906.5(ELFN2):c.1804C>G (p.Leu602Val)	ELFN2 (L602V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310415	NM_052906.5(ELFN2):c.914C>T (p.Thr305Met)	ELFN2 (T305M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308440	NM_052906.5(ELFN2):c.976G>A (p.Val326Met)	ELFN2 (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303976	NM_052906.5(ELFN2):c.2234A>G (p.Gln745Arg)	ELFN2 (Q745R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281544	NM_052906.5(ELFN2):c.2297C>T (p.Thr766Met)	ELFN2 (T766M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270650	NM_052906.5(ELFN2):c.872C>T (p.Thr291Met)	ELFN2 (T291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249166	NM_052906.5(ELFN2):c.1420C>T (p.Pro474Ser)	ELFN2 (P474S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239883	NM_052906.5(ELFN2):c.876T>G (p.Asp292Glu)	ELFN2 (D292E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233786	NM_052906.5(ELFN2):c.1537G>A (p.Gly513Ser)	ELFN2 (G513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229843	NM_052906.5(ELFN2):c.1106G>A (p.Arg369His)	ELFN2 (R369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216141	NM_052906.5(ELFN2):c.1579G>A (p.Gly527Ser)	ELFN2 (G527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215696	NM_052906.5(ELFN2):c.1579G>T (p.Gly527Cys)	ELFN2 (G527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207244	NM_052906.5(ELFN2):c.1363G>A (p.Ala455Thr)	ELFN2 (A455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 786382	NM_052906.5(ELFN2):c.227A>G (p.Asn76Ser)	ELFN2 (N76S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717069	NM_052906.5(ELFN2):c.785C>A (p.Ser262Tyr)	ELFN2 (S262Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

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Links from Gene

Items: 67