TBC1D7-LOC100130357[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 59498	GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3	GFOD1, GFOD1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3056707	NM_030948.6(PHACTR1):c.1392-5C>T	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	PHACTR1-related disorder	GLikely benign
Select item 2656241	NM_030948.6(PHACTR1):c.1392-4G>A	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 996864	NM_030948.6(PHACTR1):c.1393_1447+1del	PHACTR1, TBC1D7-LOC100130357	Deletion (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 1679588	NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met)	PHACTR1, TBC1D7-LOC100130357 (L374M +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GPathogenic
Select item 617492	NM_030948.6(PHACTR1):c.1436A>T (p.Asn479Ile)	PHACTR1, TBC1D7-LOC100130357 (N479I +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GPathogenic
Select item 3043407	NM_030948.6(PHACTR1):c.1448-3del	LOC100130357, LOC129995804 +2 more	Deletion (intron variant)	PHACTR1-related disorder	GLikely benign
Select item 3036608	NM_030948.6(PHACTR1):c.1451G>A (p.Arg484Gln)	LOC100130357, LOC129995804 +2 more (R392Q +4 more)	Single nucleotide variant (missense variant +1 more)	PHACTR1-related disorder	GUncertain significance
Select item 1699256	NM_030948.6(PHACTR1):c.1454A>G (p.Asn485Ser)	LOC100130357, LOC129995804 +2 more (N393S +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 617491	NM_030948.6(PHACTR1):c.1499T>C (p.Leu500Pro)	LOC100130357, LOC129995804 +2 more (L408P +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GPathogenic
Select item 1695149	NM_030948.6(PHACTR1):c.1510-2265_1510-2264del	LOC100130357, PHACTR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 3358522	NM_030948.6(PHACTR1):c.1510-6_1529del	LOC100130357, PHACTR1 +1 more	Deletion (non-coding transcript variant +2 more)	PHACTR1-related disorder	GUncertain significance
Select item 3377117	NM_030948.6(PHACTR1):c.1555C>G (p.Leu519Val)	LOC100130357, PHACTR1 +1 more (L427V +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 617490	NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys)	TBC1D7-LOC100130357, LOC100130357 +1 more (R521C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035239	NM_030948.6(PHACTR1):c.1623G>A (p.Pro541=)	LOC100130357, PHACTR1 +1 more	Single nucleotide variant (synonymous variant +1 more)	PHACTR1-related disorder	GLikely benign
Select item 2234343	NM_030948.6(PHACTR1):c.1626G>T (p.Trp542Cys)	LOC100130357, PHACTR1 +1 more (W519C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656242	NM_030948.6(PHACTR1):c.1636A>T (p.Thr546Ser)	LOC100130357, PHACTR1 +1 more (T454S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2627780	NM_030948.6(PHACTR1):c.1643C>G (p.Ala548Gly)	LOC100130357, PHACTR1 +1 more (A456G +4 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 70	GUncertain significance
Select item 2596788	NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser)	LOC100130357, PHACTR1 +1 more (T632S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3342636	NM_030948.6(PHACTR1):c.1713T>G (p.Ser571Arg)	LOC100130357, PHACTR1 +1 more (S479R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024709	NM_030948.6(PHACTR1):c.1727+24dup	TBC1D7-LOC100130357, LOC100130357 +1 more (L493fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 3038786	NM_030948.6(PHACTR1):c.*5C>T	LOC100130357, PHACTR1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	PHACTR1-related disorder	GBenign
Select item 2554959	NM_016495.6(TBC1D7):c.878G>T (p.Ser293Ile)	TBC1D7, TBC1D7-LOC100130357 (S247I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454931	NM_016495.6(TBC1D7):c.874T>G (p.Ser292Ala)	TBC1D7, TBC1D7-LOC100130357 (S265A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778226	NM_016495.6(TBC1D7):c.870C>G (p.Val290=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3040384	NM_016495.6(TBC1D7):c.867G>T (p.Pro289=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	TBC1D7-related disorder	GLikely benign
Select item 1648169	NM_016495.6(TBC1D7):c.867G>A (p.Pro289=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174688	NM_016495.6(TBC1D7):c.854A>G (p.His285Arg)	TBC1D7, TBC1D7-LOC100130357 (H258R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2720833	NM_016495.6(TBC1D7):c.833C>G (p.Ala278Gly)	TBC1D7, TBC1D7-LOC100130357 (A232G +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1695747	NM_016495.6(TBC1D7):c.817G>A (p.Ala273Thr)	TBC1D7, TBC1D7-LOC100130357 (A227T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1480755	NM_016495.6(TBC1D7):c.803A>G (p.Gln268Arg)	TBC1D7, TBC1D7-LOC100130357 (Q222R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667024	NM_016495.6(TBC1D7):c.801C>T (p.Pro267=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500788	NM_016495.6(TBC1D7):c.799C>T (p.Pro267Ser)	TBC1D7, TBC1D7-LOC100130357 (P267S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296682	NM_016495.6(TBC1D7):c.796-242A>G	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283787	NM_016495.6(TBC1D7):c.795+299C>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239603	NM_016495.6(TBC1D7):c.795+276G>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195567	NM_016495.6(TBC1D7):c.795+195_795+199del	TBC1D7, TBC1D7-LOC100130357	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269070	NM_016495.6(TBC1D7):c.795+102T>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2766071	NM_016495.6(TBC1D7):c.795+6T>C	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 809878	NM_016495.6(TBC1D7):c.788del (p.Leu263fs)	TBC1D7, TBC1D7-LOC100130357 (L236fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2726199	NM_016495.6(TBC1D7):c.780A>G (p.Thr260=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336146	NM_016495.6(TBC1D7):c.752T>C (p.Met251Thr)	TBC1D7, TBC1D7-LOC100130357 (M205T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 488617	NM_016495.6(TBC1D7):c.747dup (p.Val250fs)	TBC1D7-LOC100130357, TBC1D7 (V204fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1445285	NM_016495.6(TBC1D7):c.728T>C (p.Leu243Ser)	TBC1D7, TBC1D7-LOC100130357 (L216S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305818	NM_016495.6(TBC1D7):c.721G>A (p.Glu241Lys)	TBC1D7, TBC1D7-LOC100130357 (E195K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2370219	NM_016495.6(TBC1D7):c.715G>A (p.Ala239Thr)	TBC1D7, TBC1D7-LOC100130357 (A212T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3371030	NM_016495.6(TBC1D7):c.707T>C (p.Val236Ala)	TBC1D7, TBC1D7-LOC100130357 (V190A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770546	NM_016495.6(TBC1D7):c.678A>G (p.Lys226=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2705589	NM_016495.6(TBC1D7):c.672G>A (p.Trp224Ter)	TBC1D7, TBC1D7-LOC100130357 (W178* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1174180	NM_016495.6(TBC1D7):c.666-198A>G	TBC1D7-LOC100130357, TBC1D7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290432	NM_016495.6(TBC1D7):c.666-287G>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237989	NM_016495.6(TBC1D7):c.666-318C>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253342	NM_016495.6(TBC1D7):c.665+312G>A	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267286	NM_016495.6(TBC1D7):c.665+296C>T	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191002	NM_016495.6(TBC1D7):c.665+144G>A	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875195	NM_016495.6(TBC1D7):c.665+19G>C	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289943	NM_016495.6(TBC1D7):c.665+8G>A	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1632096	NM_016495.6(TBC1D7):c.636G>A (p.Ala212=)	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523885	NM_016495.6(TBC1D7):c.613C>G (p.Leu205Val)	LOC126859592, TBC1D7 +1 more (L159V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255833	NM_016495.6(TBC1D7):c.608A>G (p.Tyr203Cys)	LOC126859592, TBC1D7 +1 more (Y203C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776111	NM_016495.6(TBC1D7):c.594G>A (p.Ala198=)	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725677	NM_016495.6(TBC1D7):c.593C>T (p.Ala198Val)	LOC126859592, TBC1D7 +1 more (A152V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1399299	NM_016495.6(TBC1D7):c.591G>A (p.Ala197=)	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 727217	NM_016495.6(TBC1D7):c.588C>T (p.Ser196=)	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 89031	NM_016495.6(TBC1D7):c.538del (p.Tyr180fs)	TBC1D7-LOC100130357, LOC126859592 +1 more (Y134fs +2 more)	Deletion (frameshift variant)	Macrocephaly/megalencephaly syndrome, autosomal recessive	GPathogenic
Select item 1186436	NM_016495.6(TBC1D7):c.528G>A (p.Ala176=)	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174686	NM_016495.6(TBC1D7):c.527C>T (p.Ala176Val)	LOC126859592, TBC1D7 +1 more (A130V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183234	NM_016495.6(TBC1D7):c.520-106A>G	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234218	NM_016495.6(TBC1D7):c.520-205A>G	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215373	NM_016495.6(TBC1D7):c.520-225A>G	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246303	NM_016495.6(TBC1D7):c.520-312T>C	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 1281752	NM_016495.6(TBC1D7):c.519+184C>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247944	NM_016495.6(TBC1D7):c.519+166C>G	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258831	NM_016495.6(TBC1D7):c.519+145A>G	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201809	NM_016495.6(TBC1D7):c.519+22dup	TBC1D7, TBC1D7-LOC100130357	Duplication (intron variant)	not provided	GLikely benign
Select item 1297982	NM_016495.6(TBC1D7):c.519+22del	TBC1D7, TBC1D7-LOC100130357	Deletion (intron variant)	not provided	GBenign
Select item 1280950	NM_016495.6(TBC1D7):c.519+21_519+22del	TBC1D7, TBC1D7-LOC100130357	Deletion (intron variant)	not provided	GBenign
Select item 1206124	NM_016495.6(TBC1D7):c.517T>C (p.Leu173=)	TBC1D7-LOC100130357, TBC1D7	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1450295	NM_016495.6(TBC1D7):c.500G>A (p.Arg167Gln)	TBC1D7, TBC1D7-LOC100130357 (R140Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2635982	NM_016495.6(TBC1D7):c.499C>T (p.Arg167Trp)	TBC1D7, TBC1D7-LOC100130357 (R140W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1300860	NM_016495.6(TBC1D7):c.469C>T (p.Arg157Cys)	TBC1D7, TBC1D7-LOC100130357 (R130C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1708894	NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln)	TBC1D7, TBC1D7-LOC100130357 (R129Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1302565	NM_016495.6(TBC1D7):c.466C>T (p.Arg156Ter)	TBC1D7, TBC1D7-LOC100130357 (R129* +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1722906	NM_016495.6(TBC1D7):c.449A>G (p.Asp150Gly)	TBC1D7, TBC1D7-LOC100130357 (D123G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2656243	NM_016495.6(TBC1D7):c.447C>T (p.Val149=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1208683	NM_016495.6(TBC1D7):c.446T>C (p.Val149Ala)	TBC1D7, TBC1D7-LOC100130357 (V122A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 3324737	NM_016495.6(TBC1D7):c.436G>C (p.Glu146Gln)	TBC1D7, TBC1D7-LOC100130357 (E146Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2063671	NM_016495.6(TBC1D7):c.435G>A (p.Val145=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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