ClinVar for Gene (Select 11160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359579	NM_007175.8(ERLIN2):c.295G>A (p.Ala99Thr)	ERLIN2 (A99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341770	NM_007175.8(ERLIN2):c.975T>C (p.Phe325=)	ERLIN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276382	NM_007175.8(ERLIN2):c.632G>A (p.Arg211Gln)	ERLIN2 (R211Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276381	NM_007175.8(ERLIN2):c.446A>G (p.Lys149Arg)	ERLIN2 (K149R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	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 3020994	NM_007175.8(ERLIN2):c.77T>C (p.Ile26Thr)	ERLIN2 (I26T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2998566	NM_007175.8(ERLIN2):c.849G>C (p.Leu283=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2989060	NM_007175.8(ERLIN2):c.737A>C (p.Glu246Ala)	ERLIN2 (E246A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2981922	NM_007175.8(ERLIN2):c.473C>T (p.Ser158Phe)	ERLIN2 (S158F)	Single nucleotide variant (missense variant)	Spastic paraplegia	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 2912921	NM_007175.8(ERLIN2):c.573A>T (p.Thr191=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
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 2908306	NM_007175.8(ERLIN2):c.557+17C>A	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2899269	NM_007175.8(ERLIN2):c.836A>C (p.Glu279Ala)	ERLIN2 (E279A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2895673	NM_007175.8(ERLIN2):c.918G>A (p.Met306Ile)	ERLIN2 (M306I)	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 2816403	NM_007175.8(ERLIN2):c.21T>G (p.Val7=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2810544	NM_007175.8(ERLIN2):c.707A>G (p.Lys236Arg)	ERLIN2 (K236R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2771410	NM_007175.8(ERLIN2):c.237-3T>C	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2767750	NM_007175.8(ERLIN2):c.577C>T (p.Leu193Phe)	ERLIN2 (L193F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2752457	NM_007175.8(ERLIN2):c.879C>T (p.Ser293=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 2738178	NM_007175.8(ERLIN2):c.819+13C>T	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2736635	NM_007175.8(ERLIN2):c.820-6T>A	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2735636	NM_007175.8(ERLIN2):c.303del (p.Val100_Tyr101insTer)	ERLIN2	Deletion (nonsense)	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 2727819	NM_007175.8(ERLIN2):c.805G>T (p.Ala269Ser)	ERLIN2 (A269S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2721810	NM_007175.8(ERLIN2):c.992C>T (p.Pro331Leu)	ERLIN2 (P331L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2721236	NM_007175.8(ERLIN2):c.549C>T (p.Tyr183=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2712756	NM_007175.8(ERLIN2):c.107+14_107+15del	ERLIN2	Deletion (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 2701832	NM_007175.8(ERLIN2):c.739+13G>A	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2683007	NM_007175.8(ERLIN2):c.1007C>T (p.Thr336Ile)	ERLIN2 (T336I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2663863	NM_007175.8(ERLIN2):c.660del (p.Val221fs)	ERLIN2 (V221fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 18	GPathogenic
Select item 2663843	NM_007175.8(ERLIN2):c.869C>T (p.Ala290Val)	ERLIN2 (A290V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 18	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 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2579114	NM_007175.8(ERLIN2):c.47_48delinsAA (p.Cys16Ter)	ERLIN2 (C16*)	Indel (nonsense)	Hereditary spastic paraplegia 18	GPathogenic
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Spastic paraplegia +3 more	GUncertain significance
Select item 2413393	NM_007175.8(ERLIN2):c.557+14C>G	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2231154	NM_007175.8(ERLIN2):c.884T>C (p.Ile295Thr)	ERLIN2 (I295T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193744	NM_007175.8(ERLIN2):c.820-6dup	ERLIN2	Duplication (intron variant)	Spastic paraplegia	GBenign
Select item 2187738	NM_007175.8(ERLIN2):c.758G>A (p.Arg253Gln)	ERLIN2 (R253Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2167462	NM_007175.8(ERLIN2):c.557+15C>T	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 2165439	NM_007175.8(ERLIN2):c.899A>G (p.Asp300Gly)	ERLIN2 (D300G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2165438	NM_007175.8(ERLIN2):c.873C>G (p.Ser291=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
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 2138461	NM_007175.8(ERLIN2):c.819+11C>T	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
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 2122317	NM_007175.8(ERLIN2):c.622G>C (p.Glu208Gln)	ERLIN2 (E208Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2083711	NM_007175.8(ERLIN2):c.597A>G (p.Lys199=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
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 2082890	NM_007175.8(ERLIN2):c.190-19A>G	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2081665	NM_007175.8(ERLIN2):c.483T>C (p.Pro161=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2070022	NM_007175.8(ERLIN2):c.820-6del	ERLIN2	Deletion (intron variant)	Spastic paraplegia	GBenign
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 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 2047444	NM_007175.8(ERLIN2):c.557+12C>T	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	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 2010956	NM_007175.8(ERLIN2):c.532G>A (p.Ala178Thr)	ERLIN2 (A178T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 2007733	NM_007175.8(ERLIN2):c.1017T>G (p.Asn339Lys)	ERLIN2 (N339K)	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 1984788	NM_007175.8(ERLIN2):c.424+9G>C	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1984071	NM_007175.8(ERLIN2):c.1002G>A (p.Thr334=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1939708	NM_007175.8(ERLIN2):c.927G>A (p.Ala309=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1930827	NM_007175.8(ERLIN2):c.246G>A (p.Val82=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 1919265	NM_007175.8(ERLIN2):c.553T>C (p.Leu185=)	ERLIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1902074	NM_007175.8(ERLIN2):c.413T>C (p.Ile138Thr)	ERLIN2 (I138T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
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 1720746	NM_007175.8(ERLIN2):c.106A>G (p.Arg36Gly)	ERLIN2 (R36G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1710198	NM_007175.8(ERLIN2):c.538C>T (p.Arg180Cys)	ERLIN2 (R180C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 18	GUncertain significance
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1672899	NM_007175.8(ERLIN2):c.807C>T (p.Ala269=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1646302	NM_007175.8(ERLIN2):c.777T>C (p.Asp259=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1599774	NM_007175.8(ERLIN2):c.819+12G>A	ERLIN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1591531	NM_007175.8(ERLIN2):c.425-8T>C	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1561762	NM_007175.8(ERLIN2):c.820-17T>G	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1527425	GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)	ADGRA2, ADRB3 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 1467186	NM_007175.8(ERLIN2):c.237-2A>G	ERLIN2	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia	GLikely pathogenic
Select item 1455925	NC_000008.10:g.(?_37595441)_(38961219_?)del	ADAM9, ADGRA2 +21 more	Deletion	not provided	GPathogenic
Select item 1383576	NM_007175.8(ERLIN2):c.862G>C (p.Ala288Pro)	ERLIN2 (A288P)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 1360105	NM_007175.8(ERLIN2):c.520A>G (p.Asn174Asp)	ERLIN2 (N174D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1344329	NM_007175.8(ERLIN2):c.499-11TC[3]	ERLIN2	Microsatellite (intron variant)	Hereditary spastic paraplegia	GUncertain significance
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 1340936	GRCh37/hg19 8p11.23(chr8:37544476-37818465)x3	ADGRA2, BRF2 +5 more	Copy number gain	not provided	GUncertain significance
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 1313297	NM_007175.8(ERLIN2):c.50C>T (p.Ala17Val)	ERLIN2 (A17V)	Single nucleotide variant (missense variant)	not provided	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

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