Related gene-specific medical variations for Gene (Select 107080638) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3390143	NM_016495.6(TBC1D7):c.117T>C (p.Thr39=)	TBC1D7-LOC100130357, TBC1D7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 3353272	NM_016495.6(TBC1D7):c.221A>G (p.His74Arg)	TBC1D7-LOC100130357, TBC1D7 (H47R +1 more)	Single nucleotide variant (missense variant +1 more)	TBC1D7-related disorder	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 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 3324736	NM_016495.6(TBC1D7):c.412G>A (p.Ala138Thr)	TBC1D7, TBC1D7-LOC100130357 (A138T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3250875	NM_016495.6(TBC1D7):c.381+57G>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3058164	NM_016495.6(TBC1D7):c.381+12C>G	TBC1D7, TBC1D7-LOC100130357 (H104Q)	Single nucleotide variant (missense variant +1 more)	TBC1D7-related disorder	GLikely benign
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 3046514	NM_016495.6(TBC1D7):c.381+56C>T	TBC1D7, TBC1D7-LOC100130357 (P119L)	Single nucleotide variant (missense variant +1 more)	TBC1D7-related disorder	GLikely benign
Select item 3043407	NM_030948.6(PHACTR1):c.1448-3del	LOC100130357, LOC129995804 +2 more	Deletion (intron variant)	PHACTR1-related disorder	GLikely benign
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 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 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 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 3032934	NM_016495.6(TBC1D7):c.378A>T (p.Pro126=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	TBC1D7-related disorder	GLikely benign
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 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, TBC1D7-LOC100130357	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 (missense variant +2 more)	not provided	GUncertain significance
Select item 2768201	NM_016495.6(TBC1D7):c.434T>G (p.Val145Gly)	TBC1D7, TBC1D7-LOC100130357 (V118G +1 more)	Single nucleotide variant (intron 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	GConflicting classifications of pathogenicity
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 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 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 2656241	NM_030948.6(PHACTR1):c.1392-4G>A	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636487	NM_016495.6(TBC1D7):c.6dup (p.Glu3Ter)	TBC1D7, TBC1D7-LOC100130357 (E3*)	Duplication (nonsense +1 more)	TBC1D7-related disorder	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 disorder	GUncertain significance
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 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 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 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, TBC1D7-LOC100130357 (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 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 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)	not provided	GBenign
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 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 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 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 1695149	NM_030948.6(PHACTR1):c.1510-2265_1510-2264del	LOC100130357, PHACTR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
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 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 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 (intron variant +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+324dup	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)	not provided +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)	not provided	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, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	Macrocephaly/megalencephaly syndrome, autosomal recessive +1 more	GBenign

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