79867[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1184290	NC_000012.12:g.123628460_123712468dup	ATP6V0A2, EIF2B1 +6 more	Duplication	not provided	GUncertain significance
Select item 1251593	NC_000012.12:g.123670796_123670820dup	TCTN2	Duplication	not provided	GBenign
Select item 1223577	NC_000012.12:g.123670821T>A	TCTN2	Single nucleotide variant	not provided	GLikely benign
Select item 1271763	NC_000012.12:g.123670979A>G	TCTN2	Single nucleotide variant	not provided	GBenign
Select item 307541	NM_024809.5(TCTN2):c.-95G>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1188149	NM_024809.5(TCTN2):c.-80G>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 307542	NM_024809.5(TCTN2):c.-55C>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 24 +2 more	GBenign/Likely benign
Select item 307543	NM_024809.5(TCTN2):c.-15C>T	TCTN2	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 193458	NM_024809.5(TCTN2):c.-2G>A	TCTN2	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 2166235	NM_024809.5(TCTN2):c.6C>A (p.Gly2=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2150894	NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu)	TCTN2 (F3L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1446177	NM_024809.5(TCTN2):c.17C>T (p.Pro6Leu)	TCTN2 (P6L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2929658	NM_024809.5(TCTN2):c.18G>A (p.Pro6=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2145665	NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr)	TCTN2 (A8T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2643515	NM_024809.5(TCTN2):c.24T>G (p.Ala8=)	TCTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899076	NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe)	TCTN2 (L9F)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2022255	NM_024809.5(TCTN2):c.27T>A (p.Leu9=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1645514	NM_024809.5(TCTN2):c.27T>G (p.Leu9=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 724553	NM_024809.5(TCTN2):c.48G>T (p.Leu16=)	TCTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 217700	NM_024809.5(TCTN2):c.76dup (p.Asp26fs)	TCTN2 (D26fs)	Duplication (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217701	NM_024809.5(TCTN2):c.76del (p.Asp26fs)	TCTN2 (D26fs)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 938022	NM_024809.5(TCTN2):c.72G>A (p.Trp24Ter)	TCTN2 (W24*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 882803	NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)	TCTN2 (D26Y)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 2123343	NM_024809.5(TCTN2):c.82+1G>T	TCTN2	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 1598527	NM_024809.5(TCTN2):c.82+7A>C	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1415895	NM_024809.5(TCTN2):c.82+11C>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1959612	NM_024809.5(TCTN2):c.82+15G>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1629150	NM_024809.5(TCTN2):c.82+17A>C	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1549306	NM_024809.5(TCTN2):c.83-20C>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2927479	NM_024809.5(TCTN2):c.83-18C>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1628577	NM_024809.5(TCTN2):c.83-16T>G	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1662241	NM_024809.5(TCTN2):c.83-12C>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 695476	NM_024809.5(TCTN2):c.83-9C>G	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2643516	NM_024809.5(TCTN2):c.83-2_96dup	TCTN2	Duplication (splice acceptor variant)	not provided	GPathogenic
Select item 698023	NM_024809.5(TCTN2):c.83-6G>A	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 126291	NM_024809.5(TCTN2):c.83-4C>T	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +5 more	GBenign
Select item 2088639	NM_024809.5(TCTN2):c.83-2A>G	TCTN2	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 1434589	NM_024809.5(TCTN2):c.89T>C (p.Ile30Thr)	TCTN2 (I30T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1435137	NM_024809.5(TCTN2):c.92C>T (p.Pro31Leu)	TCTN2 (P31L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1037326	NM_024809.5(TCTN2):c.92C>G (p.Pro31Arg)	TCTN2 (P31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1422672	NM_024809.5(TCTN2):c.94C>T (p.Pro32Ser)	TCTN2 (P32S)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2124232	NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu)	TCTN2 (F33L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2048680	NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu)	TCTN2 (I34L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2329570	NM_024809.5(TCTN2):c.108G>T (p.Met36Ile)	TCTN2 (M36I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403800	NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys)	TCTN2 (G38C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1418583	NM_024809.5(TCTN2):c.113G>A (p.Gly38Asp)	TCTN2 (G38D)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 3175380	NM_024809.5(TCTN2):c.125G>A (p.Ser42Asn)	TCTN2 (S42N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212387	NM_024809.5(TCTN2):c.134dup (p.Val46fs)	TCTN2 (V46fs)	Duplication (frameshift variant)	Meckel syndrome, type 8	GPathogenic
Select item 3175382	NM_024809.5(TCTN2):c.146C>T (p.Thr49Ile)	TCTN2 (T49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175381	NM_024809.5(TCTN2):c.146C>G (p.Thr49Ser)	TCTN2 (T49S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2933890	NM_024809.5(TCTN2):c.147C>A (p.Thr49=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2116173	NM_024809.5(TCTN2):c.147C>T (p.Thr49=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1402088	NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys)	TCTN2 (E50K)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1988793	NM_024809.5(TCTN2):c.170C>T (p.Ala57Val)	TCTN2 (A57V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1953137	NM_024809.5(TCTN2):c.184G>T (p.Glu62Ter)	TCTN2 (E62*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 1428181	NM_024809.5(TCTN2):c.184G>C (p.Glu62Gln)	TCTN2 (E62Q)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1377841	NM_024809.5(TCTN2):c.185A>C (p.Glu62Ala)	TCTN2 (E62A)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2088149	NM_024809.5(TCTN2):c.188C>G (p.Ala63Gly)	TCTN2 (A63G)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2090790	NM_024809.5(TCTN2):c.190+14C>T	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1576369	NM_024809.5(TCTN2):c.190+17T>C	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 675007	NM_024809.5(TCTN2):c.191-116C>T	TCTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595543	NM_024809.5(TCTN2):c.191-20T>C	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2945144	NM_024809.5(TCTN2):c.191-19G>T	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2931405	NM_024809.5(TCTN2):c.191-19G>A	TCTN2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1629816	NM_024809.5(TCTN2):c.191-16G>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1116081	NM_024809.5(TCTN2):c.191-15G>A	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1517942	NM_024809.5(TCTN2):c.191-10_191-8del	TCTN2	Microsatellite (intron variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2941610	NM_024809.5(TCTN2):c.191-12T>G	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1405929	NM_024809.5(TCTN2):c.191-5T>G	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2168518	NM_024809.5(TCTN2):c.192A>C (p.Gly64=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2141077	NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg)	TCTN2 (P67R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1393000	NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu)	TCTN2 (P67L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 307544	NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)	TCTN2 (I68V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 2187646	NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu)	TCTN2 (P69L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1649134	NM_024809.5(TCTN2):c.207G>A (p.Pro69=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950425	NM_024809.5(TCTN2):c.210G>A (p.Thr70=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1556088	NM_024809.5(TCTN2):c.210G>T (p.Thr70=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1468341	NM_024809.5(TCTN2):c.217G>C (p.Val73Leu)	TCTN2 (V73L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2004786	NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His)	TCTN2 (N76H)	Indel (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 126287	NM_024809.5(TCTN2):c.225C>T (p.Asn75=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +5 more	GBenign
Select item 1438824	NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg)	TCTN2 (T78R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1983368	NM_024809.5(TCTN2):c.234G>A (p.Thr78=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2014956	NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys)	TCTN2 (E79K)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2143925	NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala)	TCTN2 (D80A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1664756	NM_024809.5(TCTN2):c.246C>T (p.Ser82=)	TCTN2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 191281	NM_024809.5(TCTN2):c.254_255del (p.Val85fs)	TCTN2 (V85fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1663887	NM_024809.5(TCTN2):c.255G>C (p.Val85=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2932665	NM_024809.5(TCTN2):c.258C>A (p.Ile86=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1486473	NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser)	TCTN2 (P87S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance

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