TBC1D4[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 216

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 154463	GRCh38/hg38 13q22.1-22.2(chr13:74604761-75438226)x1	LINC01078, LOC124909502 +9 more	Copy number loss	See cases	GUncertain significance
Select item 1273750	NM_014832.5(TBC1D4):c.*124G>T	TBC1D4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3174670	NM_014832.5(TBC1D4):c.3835C>G (p.Leu1279Val)	TBC1D4 (L1216V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436949	NM_014832.5(TBC1D4):c.3827A>G (p.Asn1276Ser)	TBC1D4 (N1276S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 130861	NM_014832.5(TBC1D4):c.3824T>C (p.Val1275Ala)	TBC1D4 (V1275A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 436953	NM_014832.5(TBC1D4):c.3810C>G (p.Pro1270=)	TBC1D4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 130860	NM_014832.5(TBC1D4):c.3762A>T (p.Glu1254Asp)	TBC1D4 (E1254D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 775344	NM_014832.5(TBC1D4):c.3696A>T (p.Ser1232=)	TBC1D4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 212373	NM_014832.5(TBC1D4):c.3664-19dup	TBC1D4	Duplication (intron variant)	not specified	GBenign
Select item 130553	NM_014832.5(TBC1D4):c.3617A>G (p.Asn1206Ser)	TBC1D4 (N1206S +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1240415	NM_014832.5(TBC1D4):c.3487-69C>G	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130552	NM_014832.5(TBC1D4):c.3440C>T (p.Thr1147Met)	TBC1D4 (T1147M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3057756	NM_014832.5(TBC1D4):c.3391A>G (p.Ile1131Val)	TBC1D4 (I1068V +2 more)	Single nucleotide variant (missense variant)	TBC1D4-related disorder	GLikely benign
Select item 130544	NM_014832.5(TBC1D4):c.3356T>C (p.Val1119Ala)	TBC1D4 (V1119A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3324716	NM_014832.5(TBC1D4):c.3343G>A (p.Val1115Ile)	TBC1D4 (V1107I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279343	NM_014832.5(TBC1D4):c.3317-247A>T	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222510	NM_014832.5(TBC1D4):c.3317-254G>A	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289397	NM_014832.5(TBC1D4):c.3316+292A>G	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295485	NM_014832.5(TBC1D4):c.3316+149G>A	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174668	NM_014832.5(TBC1D4):c.3228T>A (p.Asn1076Lys)	TBC1D4 (N1013K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236980	NM_014832.5(TBC1D4):c.3157-258T>A	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174667	NM_014832.5(TBC1D4):c.3148T>C (p.Ser1050Pro)	TBC1D4 (S1050P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 562223	NM_014832.5(TBC1D4):c.3122G>A (p.Arg1041His)	TBC1D4 (R1041H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550766	NM_014832.5(TBC1D4):c.3111C>A (p.Asp1037Glu)	TBC1D4 (D1037E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513634	NM_014832.5(TBC1D4):c.3031A>T (p.Ile1011Phe)	TBC1D4 (I1011F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271807	NM_014832.5(TBC1D4):c.2912-77C>T	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2262582	NM_014832.5(TBC1D4):c.2905G>A (p.Asp969Asn)	TBC1D4 (D969N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130550	NM_014832.5(TBC1D4):c.2901C>T (p.Leu967=)	TBC1D4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2468301	NM_014832.5(TBC1D4):c.2842C>T (p.Pro948Ser)	TBC1D4 (P948S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174666	NM_014832.5(TBC1D4):c.2803T>C (p.Tyr935His)	TBC1D4 (Y935H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277515	NM_014832.5(TBC1D4):c.2752+64del	TBC1D4	Deletion (intron variant)	not provided	GBenign
Select item 3324720	NM_014832.5(TBC1D4):c.2597G>A (p.Ser866Asn)	TBC1D4 (S858N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219800	NM_014832.5(TBC1D4):c.2459T>G (p.Phe820Cys)	TBC1D4 (F812C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130549	NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile)	TBC1D4 (V819I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3174665	NM_014832.5(TBC1D4):c.2438A>G (p.Glu813Gly)	TBC1D4 (E805G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246959	NM_014832.5(TBC1D4):c.2431A>C (p.Thr811Pro)	TBC1D4 (T803P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130548	NM_014832.5(TBC1D4):c.2384-3C>T	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174664	NM_014832.5(TBC1D4):c.2378A>G (p.Gln793Arg)	TBC1D4 (Q730R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495290	NM_014832.5(TBC1D4):c.2366C>T (p.Ser789Leu)	TBC1D4 (S781L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482314	NM_014832.5(TBC1D4):c.2357A>G (p.Lys786Arg)	TBC1D4 (K723R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470741	NM_014832.5(TBC1D4):c.2351T>C (p.Met784Thr)	TBC1D4 (M776T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336557	NM_014832.5(TBC1D4):c.2323C>T (p.Arg775Cys)	TBC1D4 (R712C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130547	NM_014832.5(TBC1D4):c.2254A>G (p.Thr752Ala)	TBC1D4 (T752A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1248610	NM_014832.5(TBC1D4):c.2222+135A>G	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2235284	NM_014832.5(TBC1D4):c.2210C>G (p.Ala737Gly)	TBC1D4 (A737G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1183833	NM_014832.5(TBC1D4):c.2198+255G>T	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181104	NM_014832.5(TBC1D4):c.2198+210A>G	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745953	NM_014832.5(TBC1D4):c.2198+2T>G	TBC1D4	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely benign
Select item 2464759	NM_014832.5(TBC1D4):c.2176C>G (p.Pro726Ala)	TBC1D4 (P726A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174663	NM_014832.5(TBC1D4):c.2167A>G (p.Arg723Gly)	TBC1D4 (R723G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336751	NM_014832.5(TBC1D4):c.2154C>T (p.Tyr718=)	TBC1D4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3034087	NM_014832.5(TBC1D4):c.2147G>A (p.Ser716Asn)	TBC1D4 (S716N)	Single nucleotide variant (missense variant +1 more)	TBC1D4-related disorder	GBenign
Select item 157612	NM_014832.5(TBC1D4):c.2050C>T (p.Arg684Ter)	TBC1D4 (R684*)	Single nucleotide variant (nonsense +1 more)	TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO	Grisk factor
Select item 130546	NM_014832.5(TBC1D4):c.2050C>G (p.Arg684Gly)	TBC1D4 (R684G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2491696	NM_014832.5(TBC1D4):c.2042C>T (p.Ser681Leu)	TBC1D4 (S681L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174662	NM_014832.5(TBC1D4):c.2041T>G (p.Ser681Ala)	TBC1D4 (S681A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1266116	NM_014832.5(TBC1D4):c.2034-59G>T	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243698	NM_014832.5(TBC1D4):c.2033+298G>T	LOC126861801, TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1050040	NM_014832.5(TBC1D4):c.1993C>T (p.Arg665Cys)	LOC126861801, TBC1D4 (R665C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3324718	NM_014832.5(TBC1D4):c.1921C>T (p.His641Tyr)	LOC126861801, TBC1D4 (H641Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436950	NM_014832.5(TBC1D4):c.1856C>T (p.Pro619Leu)	LOC126861801, TBC1D4 (P619L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 130543	NM_014832.5(TBC1D4):c.1810T>G (p.Tyr604Asp)	LOC126861801, TBC1D4 (Y604D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049351	NM_014832.5(TBC1D4):c.1807-9G>C	LOC126861801, TBC1D4	Single nucleotide variant (intron variant)	TBC1D4-related disorder	GLikely benign
Select item 1247715	NM_014832.5(TBC1D4):c.1807-333G>A	LOC126861801, TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229781	NM_014832.5(TBC1D4):c.1806+139C>A	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174660	NM_014832.5(TBC1D4):c.1741A>G (p.Arg581Gly)	TBC1D4 (R581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174240	NM_014832.5(TBC1D4):c.1731+258A>G	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241671	NM_014832.5(TBC1D4):c.1731+148G>T	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3174659	NM_014832.5(TBC1D4):c.1691A>G (p.Lys564Arg)	TBC1D4 (K564R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436951	NM_014832.5(TBC1D4):c.1648A>G (p.Ser550Gly)	TBC1D4 (S550G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253933	NM_014832.5(TBC1D4):c.1611+46A>G	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258032	NM_014832.5(TBC1D4):c.1611+45T>G	TBC1D4	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 3