7801[HGNC] - 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 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 58435	GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3	MIR6893, MIR939 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2803119	NM_013432.5(TONSL):c.4136G>A (p.Ter1379=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568587	NM_013432.5(TONSL):c.4131C>T (p.Arg1377=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181875	NM_013432.5(TONSL):c.4127G>C (p.Arg1376Pro)	TONSL (R1376P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468589	NM_013432.5(TONSL):c.4127G>A (p.Arg1376Gln)	TONSL (R1376Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041826	NM_013432.5(TONSL):c.4119CTT[1] (p.Phe1375del)	TONSL (F1375del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2053363	NM_013432.5(TONSL):c.4119C>G (p.Leu1373=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869413	NM_013432.5(TONSL):c.4089C>T (p.Gly1363=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874029	NM_013432.5(TONSL):c.4086C>T (p.Pro1362=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937859	NM_013432.5(TONSL):c.4082G>T (p.Gly1361Val)	TONSL (G1361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492352	NM_013432.5(TONSL):c.4082G>A (p.Gly1361Asp)	TONSL (G1361D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376463	NM_013432.5(TONSL):c.4081G>T (p.Gly1361Cys)	TONSL (G1361C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580640	NM_013432.5(TONSL):c.4080G>A (p.Pro1360=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905304	NM_013432.5(TONSL):c.4077G>A (p.Arg1359=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469066	NM_013432.5(TONSL):c.4073G>A (p.Ser1358Asn)	TONSL (S1358N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294832	NM_013432.5(TONSL):c.4052C>G (p.Ala1351Gly)	TONSL (A1351G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401291	NM_013432.5(TONSL):c.4050C>A (p.Asp1350Glu)	TONSL (D1350E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421877	NM_013432.5(TONSL):c.4047G>T (p.Arg1349Ser)	TONSL (R1349S)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GUncertain significance
Select item 1538289	NM_013432.5(TONSL):c.4041G>A (p.Glu1347=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449910	NM_013432.5(TONSL):c.4028G>A (p.Arg1343His)	TONSL (R1343H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146497	NM_013432.5(TONSL):c.4027C>T (p.Arg1343Cys)	TONSL (R1343C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089685	NM_013432.5(TONSL):c.4021A>G (p.Ser1341Gly)	TONSL (S1341G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511017	NM_013432.5(TONSL):c.4004G>A (p.Arg1335Gln)	TONSL (R1335Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881536	NM_013432.5(TONSL):c.4002C>T (p.Leu1334=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653007	NM_013432.5(TONSL):c.3996G>T (p.Ala1332=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189380	NM_013432.5(TONSL):c.3993C>T (p.Ala1331=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985139	NM_013432.5(TONSL):c.3967GGCCTG[3] (p.Leu1326_Trp1327insGlyLeu)	TONSL	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2876191	NM_013432.5(TONSL):c.3978G>A (p.Leu1326=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683467	NM_013432.5(TONSL):c.3967_3968dup (p.Leu1324fs)	TONSL (L1324fs)	Duplication (frameshift variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 3004283	NM_013432.5(TONSL):c.3966G>A (p.Leu1322=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905115	NM_013432.5(TONSL):c.3962C>T (p.Pro1321Leu)	TONSL (P1321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037317	NM_013432.5(TONSL):c.3961C>T (p.Pro1321Ser)	TONSL (P1321S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558726	NM_013432.5(TONSL):c.3952G>A (p.Val1318Ile)	TONSL (V1318I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1515680	NM_013432.5(TONSL):c.3950C>T (p.Ala1317Val)	TONSL (A1317V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129382	NM_013432.5(TONSL):c.3944-8C>T	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966536	NM_013432.5(TONSL):c.3944-10C>T	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938718	NM_013432.5(TONSL):c.3944-11C>G	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776044	NM_013432.5(TONSL):c.3944-16C>T	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987912	NM_013432.5(TONSL):c.3944-19G>T	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970344	NM_013432.5(TONSL):c.3944-20T>C	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1401322	NM_013432.5(TONSL):c.3943+6T>A	TONSL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2081848	NM_013432.5(TONSL):c.3939G>A (p.Leu1313=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1002518	NM_013432.5(TONSL):c.3931del (p.Gly1312fs)	TONSL (G1312fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1568521	NM_013432.5(TONSL):c.3914C>T (p.Pro1305Leu)	TONSL (P1305L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2076781	NM_013432.5(TONSL):c.3891C>T (p.Leu1297=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168117	NM_013432.5(TONSL):c.3870C>T (p.Ser1290=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2885731	NM_013432.5(TONSL):c.3861T>G (p.Pro1287=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447319	NM_013432.5(TONSL):c.3858C>G (p.Asn1286Lys)	TONSL (N1286K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797617	NM_013432.5(TONSL):c.3855C>T (p.Ala1285=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060365	NM_013432.5(TONSL):c.3853G>A (p.Ala1285Thr)	TONSL (A1285T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348045	NM_013432.5(TONSL):c.3851C>G (p.Ser1284Cys)	TONSL (S1284C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870186	NM_013432.5(TONSL):c.3841C>T (p.Leu1281=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429752	NM_013432.5(TONSL):c.3835A>G (p.Ile1279Val)	TONSL (I1279V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582146	NM_013432.5(TONSL):c.3831A>G (p.Ser1277=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568204	NM_013432.5(TONSL):c.3828C>G (p.Pro1276=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164724	NM_013432.5(TONSL):c.3827C>T (p.Pro1276Leu)	TONSL (P1276L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2101683	NM_013432.5(TONSL):c.3822G>C (p.Leu1274=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094188	NM_013432.5(TONSL):c.3820_3821del (p.Leu1274fs)	TONSL (L1274fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2616329	NM_013432.5(TONSL):c.3814C>T (p.Leu1272Phe)	TONSL (L1272F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965583	NM_013432.5(TONSL):c.3810-11T>C	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634550	NM_013432.5(TONSL):c.3810-12A>T	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130321	NM_013432.5(TONSL):c.3810-14C>G	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1805128	NM_013432.5(TONSL):c.3809+36G>A	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GUncertain significance
Select item 2997584	NM_013432.5(TONSL):c.3809+20G>A	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598212	NM_013432.5(TONSL):c.3809+9C>G	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1496591	NM_013432.5(TONSL):c.3809+5C>T	TONSL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1998280	NM_013432.5(TONSL):c.3798A>G (p.Arg1266=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982176	NM_013432.5(TONSL):c.3796dup (p.Arg1266fs)	TONSL (R1266fs)	Duplication (frameshift variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 3004072	NM_013432.5(TONSL):c.3793G>A (p.Val1265Ile)	TONSL (V1265I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328039	NM_013432.5(TONSL):c.3781G>A (p.Gly1261Arg)	TONSL (G1261R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181154	NM_013432.5(TONSL):c.3769G>A (p.Ala1257Thr)	TONSL (A1257T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1131111	NM_013432.5(TONSL):c.3762C>G (p.Thr1254=)	TONSL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723855	NM_013432.5(TONSL):c.3736-7T>C	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022488	NM_013432.5(TONSL):c.3736-12G>C	TONSL	Single nucleotide variant (intron variant)	not provided	GLikely benign

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