ERLIN2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 528028	NM_007175.8(ERLIN2):c.408C>G (p.Val136=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	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 1094004	NM_007175.8(ERLIN2):c.420G>A (p.Leu140=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1013027	NM_007175.8(ERLIN2):c.424+7A>G	ERLIN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1984788	NM_007175.8(ERLIN2):c.424+9G>C	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1267545	NM_007175.8(ERLIN2):c.424+179T>A	ERLIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207700	NM_007175.8(ERLIN2):c.424+1105C>T	ERLIN2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1182458	NM_007175.8(ERLIN2):c.425-154C>G	ERLIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679568	NM_007175.8(ERLIN2):c.425-114C>T	ERLIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198144	NM_007175.8(ERLIN2):c.425-45A>G	ERLIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591531	NM_007175.8(ERLIN2):c.425-8T>C	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 989003	NM_007175.8(ERLIN2):c.430A>G (p.Ile144Val)	ERLIN2 (I144V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GPathogenic
Select item 384427	NM_007175.8(ERLIN2):c.431T>C (p.Ile144Thr)	ERLIN2 (I144T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 458243	NM_007175.8(ERLIN2):c.452C>T (p.Ala151Val)	ERLIN2 (A151V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 945737	NM_007175.8(ERLIN2):c.461A>C (p.Gln154Pro)	ERLIN2 (Q154P)	Single nucleotide variant (missense variant)	not provided +1 more	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 2081665	NM_007175.8(ERLIN2):c.483T>C (p.Pro161=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1344329	NM_007175.8(ERLIN2):c.499-11TC[3]	ERLIN2	Microsatellite (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 92113	NM_007175.8(ERLIN2):c.499-1G>T	ERLIN2	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 18	GPathogenic
Select item 956477	NM_007175.8(ERLIN2):c.502G>A (p.Val168Met)	ERLIN2 (V168M)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 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 2010956	NM_007175.8(ERLIN2):c.532G>A (p.Ala178Thr)	ERLIN2 (A178T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
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 2721236	NM_007175.8(ERLIN2):c.549C>T (p.Tyr183=)	ERLIN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 1180600	NM_007175.8(ERLIN2):c.549del (p.Asn182_Tyr183insTer)	ERLIN2	Deletion (nonsense)	Abnormality of the nervous system	GLikely pathogenic
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 435090	NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA	ERLIN2	Indel (splice donor variant)	Hereditary spastic paraplegia 18	GLikely pathogenic
Select item 240724	NM_007175.8(ERLIN2):c.557+8T>C	ERLIN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 697353	NM_007175.8(ERLIN2):c.557+10C>T	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2047444	NM_007175.8(ERLIN2):c.557+12C>T	ERLIN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign

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