ERLIN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 383997	NM_007175.8(ERLIN2):c.-42G>C	ERLIN2, LOC130000200 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 280398	NM_007175.8(ERLIN2):c.17del (p.Ala6fs)	ERLIN2 (A6fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816403	NM_007175.8(ERLIN2):c.21T>G (p.Val7=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 281600	NM_007175.8(ERLIN2):c.36C>A (p.Ser12=)	ERLIN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 706961	NM_007175.8(ERLIN2):c.39T>C (p.Ser13=)	ERLIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 639125	NM_007175.8(ERLIN2):c.46del (p.Cys16fs)	ERLIN2 (C16fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2579114	NM_007175.8(ERLIN2):c.47_48delinsAA (p.Cys16Ter)	ERLIN2 (C16*)	Indel (nonsense)	Hereditary spastic paraplegia 18	GPathogenic
Select item 1313297	NM_007175.8(ERLIN2):c.50C>T (p.Ala17Val)	ERLIN2 (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836175	NM_007175.8(ERLIN2):c.76A>T (p.Ile26Leu)	ERLIN2 (I26L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3020994	NM_007175.8(ERLIN2):c.77T>C (p.Ile26Thr)	ERLIN2 (I26T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 458246	NM_007175.8(ERLIN2):c.94G>T (p.Gly32Trp)	ERLIN2 (G32W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1720746	NM_007175.8(ERLIN2):c.106A>G (p.Arg36Gly)	ERLIN2 (R36G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2712756	NM_007175.8(ERLIN2):c.107+14_107+15del	ERLIN2	Deletion (intron variant)	Spastic paraplegia	GLikely benign
Select item 1298168	NM_007175.8(ERLIN2):c.107+94A>G	ERLIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216201	NM_007175.8(ERLIN2):c.107+196A>G	ERLIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2043058	NM_007175.8(ERLIN2):c.108-15C>T	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 435086	NM_007175.8(ERLIN2):c.123G>A (p.Leu41=)	ERLIN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 700535	NM_007175.8(ERLIN2):c.129G>A (p.Ser43=)	ERLIN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066520	NM_007175.8(ERLIN2):c.136G>A (p.Gly46Ser)	ERLIN2 (G46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 701612	NM_007175.8(ERLIN2):c.144T>C (p.Gly48=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 947803	NM_007175.8(ERLIN2):c.148C>T (p.His50Tyr)	ERLIN2 (H50Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2909085	NM_007175.8(ERLIN2):c.154A>C (p.Met52Leu)	ERLIN2 (M52L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2845897	NM_007175.8(ERLIN2):c.179dup (p.Ser61fs)	ERLIN2 (S61fs)	Duplication (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2731837	NM_007175.8(ERLIN2):c.177T>C (p.Tyr59=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 859651	NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys)	ERLIN2 (Q63K)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1344328	NM_007175.8(ERLIN2):c.188A>C (p.Gln63Pro)	ERLIN2 (Q63P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1307282	NM_007175.8(ERLIN2):c.188A>G (p.Gln63Arg)	ERLIN2 (Q63R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198034	NM_007175.8(ERLIN2):c.189+154A>G	ERLIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245649	NM_007175.8(ERLIN2):c.189+162AC[4]	ERLIN2	Microsatellite (intron variant)	not provided	GBenign
Select item 1298169	NM_007175.8(ERLIN2):c.190-180C>G	ERLIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2082890	NM_007175.8(ERLIN2):c.190-19A>G	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2705446	NM_007175.8(ERLIN2):c.207_209del (p.Asp69del)	ERLIN2 (D69del)	Deletion (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 834519	NM_007175.8(ERLIN2):c.205G>C (p.Asp69His)	ERLIN2 (D69H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1992126	NM_007175.8(ERLIN2):c.207T>G (p.Asp69Glu)	ERLIN2 (D69E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 435087	NM_007175.8(ERLIN2):c.219T>C (p.Asn73=)	ERLIN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 836907	NM_007175.8(ERLIN2):c.220G>A (p.Val74Ile)	ERLIN2 (V74I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3381436	NM_007175.8(ERLIN2):c.236+5G>T	ERLIN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1211525	NM_007175.8(ERLIN2):c.237-307C>T	ERLIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682602	NM_007175.8(ERLIN2):c.237-20G>A	ERLIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771410	NM_007175.8(ERLIN2):c.237-3T>C	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1467186	NM_007175.8(ERLIN2):c.237-2A>G	ERLIN2	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia	GLikely pathogenic
Select item 374613	NM_007175.8(ERLIN2):c.237-1G>A	ERLIN2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 842326	NM_007175.8(ERLIN2):c.246GAT[1] (p.Met83del)	ERLIN2 (M83del)	Microsatellite (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 1930827	NM_007175.8(ERLIN2):c.246G>A (p.Val82=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 2054083	NM_007175.8(ERLIN2):c.249G>T (p.Met83Ile)	ERLIN2 (M83I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2975376	NM_007175.8(ERLIN2):c.250A>G (p.Ile84Val)	ERLIN2 (I84V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2140016	NM_007175.8(ERLIN2):c.254A>T (p.Tyr85Phe)	ERLIN2 (Y85F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 458242	NM_007175.8(ERLIN2):c.277A>G (p.Asn93Asp)	ERLIN2 (N93D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1309711	NM_007175.8(ERLIN2):c.278A>G (p.Asn93Ser)	ERLIN2 (N93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163479	NM_007175.8(ERLIN2):c.298+5G>A	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 435088	NM_007175.8(ERLIN2):c.299-4_299-3del	ERLIN2	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2735636	NM_007175.8(ERLIN2):c.303del (p.Val100_Tyr101insTer)	ERLIN2	Deletion (nonsense)	Spastic paraplegia	GPathogenic
Select item 834707	NM_007175.8(ERLIN2):c.303T>A (p.Tyr101Ter)	ERLIN2 (Y101*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 129021	NM_007175.8(ERLIN2):c.318C>T (p.Asn106=)	ERLIN2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 698721	NM_007175.8(ERLIN2):c.333T>C (p.Tyr111=)	ERLIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2083681	NM_007175.8(ERLIN2):c.334G>A (p.Asp112Asn)	ERLIN2 (D112N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3257373	NM_007175.8(ERLIN2):c.346A>T (p.Ile116Phe)	ERLIN2 (I116F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817651	NM_007175.8(ERLIN2):c.353del (p.Asn118fs)	ERLIN2 (N118fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3034853	NM_007175.8(ERLIN2):c.354C>T (p.Asn118=)	ERLIN2	Single nucleotide variant (synonymous variant)	ERLIN2-related disorder	GLikely benign
Select item 1032526	NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg)	ERLIN2 (K119R)	Single nucleotide variant (missense variant)	Spastic paraplegia, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2133940	NM_007175.8(ERLIN2):c.362A>C (p.His121Pro)	ERLIN2 (H121P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 698918	NM_007175.8(ERLIN2):c.366C>T (p.His122=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1071452	NM_007175.8(ERLIN2):c.367G>T (p.Glu123Ter)	ERLIN2 (E123*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 989002	NM_007175.8(ERLIN2):c.374A>G (p.Asn125Ser)	ERLIN2 (N125S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GPathogenic
Select item 1336315	NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 937644	NM_007175.8(ERLIN2):c.385A>G (p.Ser129Gly)	ERLIN2 (S129G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2583112	NM_007175.8(ERLIN2):c.386G>C (p.Ser129Thr)	ERLIN2 (S129T)	Single nucleotide variant (missense variant)	Spastic paraplegia 18a, autosomal dominant	GPathogenic
Select item 844306	NM_007175.8(ERLIN2):c.389T>C (p.Val130Ala)	ERLIN2 (V130A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 810275	NM_007175.8(ERLIN2):c.395C>T (p.Thr132Met)	ERLIN2 (T132M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721702	NM_007175.8(ERLIN2):c.406G>C (p.Val136Leu)	ERLIN2 (V136L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 528006	NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile)	ERLIN2 (V136I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance

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