ClinVar for Gene (Select 51256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234222	NM_016495.6(TBC1D7):c.329G>A (p.Arg110His)	TBC1D7, TBC1D7-LOC100130357 (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234182	NM_016495.6(TBC1D7):c.167G>A (p.Arg56His)	TBC1D7, TBC1D7-LOC100130357 (R56H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 3174685	NM_016495.6(TBC1D7):c.343G>A (p.Glu115Lys)	TBC1D7, TBC1D7-LOC100130357 (E88K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 3058164	NM_016495.6(TBC1D7):c.381+12C>G	TBC1D7, TBC1D7-LOC100130357 (H104Q)	Single nucleotide variant (missense variant +1 more)	TBC1D7-related condition	GLikely benign
Select item 3046514	NM_016495.6(TBC1D7):c.381+56C>T	TBC1D7, TBC1D7-LOC100130357 (P119L)	Single nucleotide variant (missense variant +1 more)	TBC1D7-related condition	GLikely benign
Select item 3040384	NM_016495.6(TBC1D7):c.867G>T (p.Pro289=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	TBC1D7-related condition	GLikely benign
Select item 3032934	NM_016495.6(TBC1D7):c.378A>T (p.Pro126=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	TBC1D7-related condition	GLikely benign
Select item 2992380	NM_016495.6(TBC1D7):c.359C>T (p.Pro120Leu)	TBC1D7, TBC1D7-LOC100130357 (P93L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983699	NM_016495.6(TBC1D7):c.112+11T>C	TBC1D7-LOC100130357, TBC1D7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981309	NM_016495.6(TBC1D7):c.340C>T (p.Leu114=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	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 2775916	NM_016495.6(TBC1D7):c.161T>C (p.Met54Thr)	TBC1D7, TBC1D7-LOC100130357 (M54T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2768201	NM_016495.6(TBC1D7):c.434T>G (p.Val145Gly)	TBC1D7-LOC100130357, TBC1D7 (V118G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2758290	NM_016495.6(TBC1D7):c.194-64_233delinsC	TBC1D7, TBC1D7-LOC100130357	Indel (splice acceptor 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 2722090	NM_016495.6(TBC1D7):c.241C>T (p.Arg81Cys)	TBC1D7, TBC1D7-LOC100130357 (R54C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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	GBenign
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 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
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 2636487	NM_016495.6(TBC1D7):c.6dup (p.Glu3Ter)	TBC1D7, TBC1D7-LOC100130357 (E3*)	Duplication (nonsense +1 more)	TBC1D7-related condition	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 2633044	NM_016495.6(TBC1D7):c.155C>T (p.Pro52Leu)	TBC1D7, TBC1D7-LOC100130357 (P52L)	Single nucleotide variant (missense variant +2 more)	TBC1D7-related condition	GUncertain significance
Select item 2608531	NM_016495.6(TBC1D7):c.284T>A (p.Val95Asp)	TBC1D7, TBC1D7-LOC100130357 (V68D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607333	NM_016495.6(TBC1D7):c.211C>T (p.His71Tyr)	TBC1D7, TBC1D7-LOC100130357 (H44Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569688	NM_016495.6(TBC1D7):c.328C>T (p.Arg110Cys)	TBC1D7, TBC1D7-LOC100130357 (R83C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2454931	NM_016495.6(TBC1D7):c.874T>G (p.Ser292Ala)	TBC1D7-LOC100130357, TBC1D7 (S265A +2 more)	Single nucleotide variant (missense variant)	not specified	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 2362429	NM_016495.6(TBC1D7):c.227A>G (p.Lys76Arg)	TBC1D7, TBC1D7-LOC100130357 (K76R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340350	NM_016495.6(TBC1D7):c.166C>T (p.Arg56Cys)	TBC1D7, TBC1D7-LOC100130357 (R56C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291838	NM_016495.6(TBC1D7):c.222T>A (p.His74Gln)	TBC1D7, TBC1D7-LOC100130357 (H47Q +1 more)	Single nucleotide variant (missense variant +1 more)	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 2063671	NM_016495.6(TBC1D7):c.435G>A (p.Val145=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2062902	NM_016495.6(TBC1D7):c.322dup (p.Tyr108fs)	TBC1D7, TBC1D7-LOC100130357 (Y108fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly/megalencephaly syndrome, autosomal recessive +1 more	GPathogenic
Select item 2059206	NM_016495.6(TBC1D7):c.171A>G (p.Ala57=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +2 more)	TBC1D7-related condition +1 more	GBenign/Likely benign
Select item 2047919	NM_016495.6(TBC1D7):c.381+4A>G	TBC1D7, TBC1D7-LOC100130357 (S102G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
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 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 1695747	NM_016495.6(TBC1D7):c.817G>A (p.Ala273Thr)	TBC1D7, TBC1D7-LOC100130357 (A227T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1648169	NM_016495.6(TBC1D7):c.867G>A (p.Pro289=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1618066	NM_016495.6(TBC1D7):c.9G>A (p.Glu3=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527224	GRCh37/hg19 6p24.1-23(chr6:13189507-13502033)	GFOD1, PHACTR1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	CD83, DTNBP1 +9 more	Copy number loss	not specified	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1511468	NC_000006.11:g.(?_12290863)_(13612097_?)dup	SIRT5, TBC1D7 +3 more	Duplication	not provided	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 1480479	NM_016495.6(TBC1D7):c.295A>G (p.Ser99Gly)	TBC1D7, TBC1D7-LOC100130357 (S99G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 1351423	NM_016495.6(TBC1D7):c.196A>G (p.Ile66Val)	TBC1D7, TBC1D7-LOC100130357 (I39V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1302565	NM_016495.6(TBC1D7):c.466C>T (p.Arg156Ter)	TBC1D7, TBC1D7-LOC100130357 (R129* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	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 1297982	NM_016495.6(TBC1D7):c.519+22del	TBC1D7, TBC1D7-LOC100130357	Deletion (intron variant)	not provided	GBenign
Select item 1296682	NM_016495.6(TBC1D7):c.796-242A>G	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296605	NM_016495.6(TBC1D7):c.112+310dup	TBC1D7, TBC1D7-LOC100130357	Duplication (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 1289943	NM_016495.6(TBC1D7):c.665+8G>A	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	Macrocephaly/megalencephaly syndrome, autosomal recessive +1 more	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 1281752	NM_016495.6(TBC1D7):c.519+184C>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (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 1269070	NM_016495.6(TBC1D7):c.795+102T>A	TBC1D7, TBC1D7-LOC100130357	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 1258831	NM_016495.6(TBC1D7):c.519+145A>G	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258529	NM_016495.6(TBC1D7):c.-8-328C>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254892	NM_016495.6(TBC1D7):c.267T>C (p.Leu89=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	TBC1D7-related condition +1 more	GLikely benign
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 1247944	NM_016495.6(TBC1D7):c.519+166C>G	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
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 1239603	NM_016495.6(TBC1D7):c.795+276G>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 1234218	NM_016495.6(TBC1D7):c.520-205A>G	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231415	NM_016495.6(TBC1D7):c.193+47G>A	TBC1D7-LOC100130357, TBC1D7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1228650	NM_016495.6(TBC1D7):c.382-144G>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224151	NM_016495.6(TBC1D7):c.381+43C>T	TBC1D7, TBC1D7-LOC100130357 (R115C)	Single nucleotide variant (missense variant +1 more)	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 1211534	NM_016495.6(TBC1D7):c.382-156C>G	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209487	NM_016495.6(TBC1D7):c.382-308G>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	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 1206124	NM_016495.6(TBC1D7):c.517T>C (p.Leu173=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1201809	NM_016495.6(TBC1D7):c.519+9dup	TBC1D7, TBC1D7-LOC100130357	Duplication (intron variant)	not provided	GLikely benign
Select item 1199580	NM_016495.6(TBC1D7):c.382-244G>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196769	NM_016495.6(TBC1D7):c.382-325G>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195567	NM_016495.6(TBC1D7):c.795+195_795+199del	TBC1D7, TBC1D7-LOC100130357	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1195494	NM_016495.6(TBC1D7):c.113-52A>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1190292	NM_016495.6(TBC1D7):c.382-272T>C	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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