TBC1D5[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 3324731	NM_001349074.2(TBC1D5):c.2434G>T (p.Val812Leu)	TBC1D5 (V797L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393088	NM_001349074.2(TBC1D5):c.2404G>A (p.Asp802Asn)	TBC1D5 (D780N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324735	NM_001349074.2(TBC1D5):c.2401G>A (p.Asp801Asn)	TBC1D5 (D665N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287093	NM_001349074.2(TBC1D5):c.2203G>A (p.Asp735Asn)	TBC1D5 (D720N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324733	NM_001349074.2(TBC1D5):c.2161G>C (p.Ala721Pro)	TBC1D5 (A563P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324728	NM_001349074.2(TBC1D5):c.2117G>C (p.Arg706Pro)	TBC1D5 (R570P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389077	NM_001349074.2(TBC1D5):c.2117G>A (p.Arg706Gln)	TBC1D5 (R570Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034707	NM_001349074.2(TBC1D5):c.2078C>A (p.Ala693Glu)	TBC1D5 (A535E +4 more)	Single nucleotide variant (missense variant)	TBC1D5-related disorder	GLikely benign
Select item 2598815	NM_001349074.2(TBC1D5):c.2067G>C (p.Gln689His)	TBC1D5 (Q667H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174682	NM_001349074.2(TBC1D5):c.2053G>A (p.Glu685Lys)	TBC1D5 (E685K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324729	NM_001349074.2(TBC1D5):c.2027G>A (p.Arg676His)	TBC1D5 (R661H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174681	NM_001349074.2(TBC1D5):c.1961A>G (p.Glu654Gly)	TBC1D5 (E654G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056326	NM_001349074.2(TBC1D5):c.1918G>C (p.Val640Leu)	TBC1D5 (V482L +4 more)	Single nucleotide variant (missense variant)	TBC1D5-related disorder	GLikely benign
Select item 3174680	NM_001349074.2(TBC1D5):c.1913A>G (p.His638Arg)	TBC1D5 (H623R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210129	NM_001349074.2(TBC1D5):c.1880T>A (p.Met627Lys)	TBC1D5 (M491K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249277	NM_001349074.2(TBC1D5):c.1847T>C (p.Phe616Ser)	TBC1D5 (F601S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174679	NM_001349074.2(TBC1D5):c.1717T>A (p.Phe573Ile)	TBC1D5 (F415I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267378	NM_001349074.2(TBC1D5):c.1690G>A (p.Val564Ile)	TBC1D5 (V542I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324734	NM_001349074.2(TBC1D5):c.1661G>A (p.Ser554Asn)	TBC1D5 (S396N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287945	NM_001349074.2(TBC1D5):c.1635G>C (p.Gln545His)	LOC129936328, TBC1D5 (Q409H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243608	NM_001349074.2(TBC1D5):c.1589G>A (p.Gly530Asp)	TBC1D5 (G530D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489172	NM_001349074.2(TBC1D5):c.1573G>A (p.Val525Met)	TBC1D5 (V389M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330021	NM_001349074.2(TBC1D5):c.1517A>G (p.His506Arg)	TBC1D5 (H513R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041409	NM_001349074.2(TBC1D5):c.1246-3dup	TBC1D5	Duplication (intron variant)	TBC1D5-related disorder	GLikely benign
Select item 2242634	NM_001349074.2(TBC1D5):c.1229T>C (p.Phe410Ser)	TBC1D5 (F417S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241218	NM_001349074.2(TBC1D5):c.1222G>A (p.Ala408Thr)	TBC1D5 (A272T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535762	NM_001349074.2(TBC1D5):c.1165C>G (p.Leu389Val)	TBC1D5 (L396V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324732	NM_001349074.2(TBC1D5):c.1145C>G (p.Ser382Cys)	TBC1D5 (S246C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149120	GRCh38/hg38 3p24.3(chr3:17296744-17535200)x1	LOC122889047, LOC129389028 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3174677	NM_001349074.2(TBC1D5):c.1007G>A (p.Arg336Gln)	TBC1D5 (R343Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149352	GRCh38/hg38 3p24.3(chr3:17315550-17626771)x1	LOC122889047, LOC129389028 +3 more	Copy number loss	See cases	GLikely benign
Select item 3324730	NM_001349074.2(TBC1D5):c.988T>C (p.Tyr330His)	TBC1D5 (Y194H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231580	NM_001349074.2(TBC1D5):c.987A>G (p.Ile329Met)	TBC1D5 (I193M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174684	NM_001349074.2(TBC1D5):c.818A>G (p.Gln273Arg)	TBC1D5 (Q280R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174683	NM_001349074.2(TBC1D5):c.775G>C (p.Glu259Gln)	TBC1D5 (E266Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523654	NM_001349074.2(TBC1D5):c.549A>C (p.Arg183Ser)	TBC1D5 (R183S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598209	NM_001349074.2(TBC1D5):c.484A>G (p.Met162Val)	TBC1D5 (M162V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555370	NM_001349074.2(TBC1D5):c.392T>C (p.Val131Ala)	TBC1D5 (V131A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653609	NM_001349074.2(TBC1D5):c.283C>T (p.Leu95Phe)	TBC1D5 (L102F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3042190	NM_001349074.2(TBC1D5):c.97+29078G>C	TBC1D5	Single nucleotide variant (intron variant +1 more)	TBC1D5-related disorder	GLikely benign
Select item 2301745	NM_001349074.2(TBC1D5):c.49C>G (p.Gln17Glu)	TBC1D5 (Q17E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150855	GRCh38/hg38 3p24.3(chr3:17573510-18695830)x1	BALR6, LOC105376975 +17 more	Copy number loss	See cases	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685072	GRCh37/hg19 3p24.3(chr3:17277016-17473530)x1	TBC1D5	Copy number loss	not provided	GUncertain significance
Select item 1808686	GRCh37/hg19 3p24.3(chr3:17311429-17406724)x1	TBC1D5	Copy number loss	not provided	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 814423	GRCh37/hg19 3p24.3(chr3:17498477-18077057)x3	TBC1D5	Copy number gain	not provided	GUncertain significance
Select item 562761	GRCh37/hg19 3p24.3(chr3:17473055-17629675)x1	TBC1D5	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 395130	GRCh37/hg19 3p24.3(chr3:17591863-17808882)x3	TBC1D5	Copy number gain	See cases	GUncertain significance

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Items: 69