ClinVar for Gene (Select 6653) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244748	NC_000011.9:g.(?_121500185)_(121500272_?)del	SORL1	Deletion	not provided	GUncertain significance
Select item 3238954	NM_003105.6(SORL1):c.1211+1G>A	SORL1	Single nucleotide variant (splice donor variant)	Complex hereditary spastic paraplegia	GPathogenic
Select item 3167625	NM_003105.6(SORL1):c.849C>A (p.Phe283Leu)	SORL1 (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167624	NM_003105.6(SORL1):c.698A>G (p.Lys233Arg)	SORL1 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167623	NM_003105.6(SORL1):c.671G>C (p.Arg224Thr)	SORL1 (R224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167622	NM_003105.6(SORL1):c.6097A>T (p.Ile2033Leu)	SORL1 (I2033L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167621	NM_003105.6(SORL1):c.5977C>T (p.Leu1993Phe)	SORL1 (L1993F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167620	NM_003105.6(SORL1):c.5911G>A (p.Asp1971Asn)	SORL1 (D1971N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167619	NM_003105.6(SORL1):c.5767G>A (p.Val1923Ile)	SORL1 (V1923I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167617	NM_003105.6(SORL1):c.5669C>T (p.Thr1890Ile)	SORL1 (T1890I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167615	NM_003105.6(SORL1):c.5251C>A (p.Pro1751Thr)	SORL1 (P1751T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167614	NM_003105.6(SORL1):c.4865C>T (p.Thr1622Met)	SORL1 (T1622M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167613	NM_003105.6(SORL1):c.4669A>G (p.Lys1557Glu)	SORL1 (K1557E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167612	NM_003105.6(SORL1):c.4659G>T (p.Leu1553Phe)	SORL1 (L1553F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167611	NM_003105.6(SORL1):c.4358G>A (p.Cys1453Tyr)	SORL1 (C1453Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167610	NM_003105.6(SORL1):c.4286G>A (p.Gly1429Glu)	SORL1 (G1429E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167609	NM_003105.6(SORL1):c.4274G>A (p.Arg1425His)	SORL1 (R1425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167608	NM_003105.6(SORL1):c.4123C>T (p.Arg1375Trp)	SORL1 (R1375W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167607	NM_003105.6(SORL1):c.40T>G (p.Phe14Val)	SORL1, SORL1-AS1 (F14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167605	NM_003105.6(SORL1):c.3749T>C (p.Ile1250Thr)	SORL1 (I1250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167604	NM_003105.6(SORL1):c.3466C>T (p.His1156Tyr)	SORL1 (H1156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167603	NM_003105.6(SORL1):c.3302A>G (p.Asn1101Ser)	LOC130006953, SORL1 (N1101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167602	NM_003105.6(SORL1):c.2866A>G (p.Ile956Val)	SORL1 (I956V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167601	NM_003105.6(SORL1):c.2854C>G (p.Gln952Glu)	SORL1 (Q952E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167600	NM_003105.6(SORL1):c.2827A>G (p.Ile943Val)	SORL1 (I943V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167599	NM_003105.6(SORL1):c.2699C>T (p.Pro900Leu)	SORL1 (P900L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167598	NM_003105.6(SORL1):c.2629C>T (p.Arg877Cys)	SORL1 (R877C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167597	NM_003105.6(SORL1):c.2362C>T (p.Arg788Trp)	LOC114803469, SORL1 (R788W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167596	NM_003105.6(SORL1):c.1868T>C (p.Val623Ala)	SORL1 (V623A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167595	NM_003105.6(SORL1):c.15C>A (p.Ser5Arg)	SORL1, SORL1-AS1 (S5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167594	NM_003105.6(SORL1):c.1075G>C (p.Val359Leu)	SORL1 (V359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063220	GRCh37/hg19 11q23.3-24.1(chr11:121088658-121442189)x3	SC5D, SORL1	Copy number gain	not specified	GUncertain significance
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3058421	NM_003105.6(SORL1):c.2440-10C>T	SORL1	Single nucleotide variant (intron variant)	SORL1-related disorder	GLikely benign
Select item 3053404	NM_003105.6(SORL1):c.2943C>T (p.Leu981=)	SORL1	Single nucleotide variant (synonymous variant)	SORL1-related disorder	GLikely benign
Select item 3049956	NM_003105.6(SORL1):c.759-9_759-8dup	SORL1	Duplication (intron variant)	SORL1-related disorder	GLikely benign
Select item 3048502	NM_003105.6(SORL1):c.2337C>T (p.Thr779=)	LOC114803469, SORL1	Single nucleotide variant (synonymous variant)	SORL1-related disorder	GLikely benign
Select item 3023677	NM_003105.6(SORL1):c.1676A>G (p.Asn559Ser)	SORL1 (N559S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022824	NM_003105.6(SORL1):c.1854G>A (p.Thr618=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022209	NM_003105.6(SORL1):c.2589C>T (p.Gly863=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021251	NM_003105.6(SORL1):c.4258C>G (p.Leu1420Val)	SORL1 (L1420V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016911	NM_003105.6(SORL1):c.2007G>A (p.Pro669=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016255	NM_003105.6(SORL1):c.2174C>T (p.Thr725Met)	SORL1 (T725M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012365	NM_003105.6(SORL1):c.773A>G (p.Tyr258Cys)	SORL1 (Y258C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011460	NM_003105.6(SORL1):c.5167-6G>T	SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3009027	NM_003105.6(SORL1):c.6348C>T (p.Tyr2116=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006645	NM_003105.6(SORL1):c.4948+5G>A	SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3006058	NM_003105.6(SORL1):c.4817A>G (p.His1606Arg)	SORL1 (H1606R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003605	NM_003105.6(SORL1):c.4410A>T (p.Arg1470=)	LOC126861368, SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001045	NM_003105.6(SORL1):c.2590G>A (p.Asp864Asn)	SORL1 (D864N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001036	NM_003105.6(SORL1):c.4379C>A (p.Thr1460Asn)	LOC126861368, SORL1 (T1460N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000401	NM_003105.6(SORL1):c.5725-19G>A	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000369	NM_003105.6(SORL1):c.1977A>C (p.Thr659=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998472	NM_003105.6(SORL1):c.2006C>A (p.Pro669Gln)	SORL1 (P669Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998199	NM_003105.6(SORL1):c.397A>G (p.Ser133Gly)	SORL1 (S133G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997039	NM_003105.6(SORL1):c.4040T>G (p.Met1347Arg)	SORL1 (M1347R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995943	NM_003105.6(SORL1):c.3577A>C (p.Thr1193Pro)	SORL1 (T1193P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990686	NM_003105.6(SORL1):c.1596+15C>G	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989257	NM_003105.6(SORL1):c.160G>C (p.Asp54His)	SORL1, SORL1-AS1 (D54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989201	NM_003105.6(SORL1):c.4298T>G (p.Met1433Arg)	SORL1 (M1433R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988656	NM_003105.6(SORL1):c.2108C>T (p.Pro703Leu)	SORL1 (P703L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987471	NM_003105.6(SORL1):c.569C>T (p.Thr190Met)	SORL1 (T190M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984125	NM_003105.6(SORL1):c.920T>G (p.Met307Arg)	SORL1 (M307R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980929	NM_003105.6(SORL1):c.403-3C>T	LOC105369535, SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2980515	NM_003105.6(SORL1):c.5036C>A (p.Thr1679Asn)	SORL1 (T1679N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2980415	NM_003105.6(SORL1):c.3468C>T (p.His1156=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979593	NM_003105.6(SORL1):c.4519+11A>G	LOC126861368, SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979042	NM_003105.6(SORL1):c.3337+12G>A	LOC130006953, SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977561	NM_003105.6(SORL1):c.3310G>A (p.Gly1104Arg)	LOC130006953, SORL1 (G1104R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972014	NM_003105.6(SORL1):c.6029A>C (p.Asn2010Thr)	SORL1 (N2010T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971378	NM_003105.6(SORL1):c.3694C>G (p.Pro1232Ala)	SORL1 (P1232A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970054	NM_003105.6(SORL1):c.4050C>T (p.Cys1350=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968075	NM_003105.6(SORL1):c.4429G>A (p.Glu1477Lys)	LOC126861368, SORL1 (E1477K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967034	NM_003105.6(SORL1):c.691-15C>A	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965101	NM_003105.6(SORL1):c.4317C>T (p.Asp1439=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964694	NM_003105.6(SORL1):c.4651+17GGGCT[6]	SORL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2962723	NM_003105.6(SORL1):c.2571+5_2571+11dup	SORL1	Duplication (intron variant)	not provided	GUncertain significance
Select item 2960531	NM_003105.6(SORL1):c.2356G>A (p.Gly786Arg)	SORL1, LOC114803469 (G786R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959203	NM_003105.6(SORL1):c.3707-17del	SORL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2919827	NM_003105.6(SORL1):c.2152G>A (p.Val718Met)	SORL1 (V718M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918837	NM_003105.6(SORL1):c.6580G>A (p.Glu2194Lys)	SORL1 (E2194K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2917276	NM_003105.6(SORL1):c.6474G>A (p.Leu2158=)	SORL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2915761	NM_003105.6(SORL1):c.516G>A (p.Ala172=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2913836	NM_003105.6(SORL1):c.4846G>C (p.Val1616Leu)	SORL1 (V1616L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910303	NM_003105.6(SORL1):c.6527A>G (p.His2176Arg)	SORL1 (H2176R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910302	NM_003105.6(SORL1):c.3475C>T (p.Arg1159Trp)	SORL1 (R1159W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910301	NM_003105.6(SORL1):c.515C>T (p.Ala172Val)	LOC105369535, SORL1 (A172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909732	NM_003105.6(SORL1):c.5524C>T (p.Arg1842Cys)	SORL1 (R1842C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909709	NM_003105.6(SORL1):c.3912C>T (p.Asp1304=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909523	NM_003105.6(SORL1):c.133G>T (p.Asp45Tyr)	SORL1, SORL1-AS1 (D45Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908759	NM_003105.6(SORL1):c.1689C>T (p.Tyr563=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907650	NM_003105.6(SORL1):c.6215C>T (p.Ala2072Val)	SORL1 (A2072V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904541	NM_003105.6(SORL1):c.3817C>T (p.Pro1273Ser)	SORL1 (P1273S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903278	NM_003105.6(SORL1):c.6349G>A (p.Asp2117Asn)	SORL1 (D2117N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900607	NM_003105.6(SORL1):c.4271A>G (p.Tyr1424Cys)	SORL1 (Y1424C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898711	NM_003105.6(SORL1):c.6296C>G (p.Ala2099Gly)	SORL1 (A2099G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897912	NM_003105.6(SORL1):c.2013C>T (p.Val671=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897882	NM_003105.6(SORL1):c.3634A>G (p.Ile1212Val)	SORL1 (I1212V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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