"GeneDx"[submitter] AND "TBC1D7"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 778226	NM_016495.6(TBC1D7):c.870C>G (p.Val290=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 776111	NM_016495.6(TBC1D7):c.594G>A (p.Ala198=)	LOC126859592, TBC1D7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 252706	NM_016495.6(TBC1D7):c.413C>A (p.Ala138Asp)	TBC1D7, TBC1D7-LOC100130357 (A138D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 1228650	NM_016495.6(TBC1D7):c.382-144G>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
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 1199580	NM_016495.6(TBC1D7):c.382-244G>A	TBC1D7-LOC100130357, TBC1D7	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 1209487	NM_016495.6(TBC1D7):c.382-308G>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 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 785159	NM_016495.6(TBC1D7):c.342G>A (p.Leu114=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	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 780598	NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp)	TBC1D7, TBC1D7-LOC100130357 (L40W +1 more)	Single nucleotide variant (missense variant +1 more)	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
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 1296605	NM_016495.6(TBC1D7):c.112+324dup	TBC1D7, TBC1D7-LOC100130357	Duplication (intron variant)	not provided	GBenign
Select item 1178004	NM_016495.6(TBC1D7):c.112+323_112+324dup	TBC1D7, TBC1D7-LOC100130357	Duplication (intron variant)	not provided	GLikely benign
Select item 1178710	NM_016495.6(TBC1D7):c.-8-62T>A	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258529	NM_016495.6(TBC1D7):c.-8-328C>T	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 56