THUMPD3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 102

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
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 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	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 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 151834	GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1	CAV3, LINC00312 +36 more	Copy number loss	See cases	GPathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 150505	GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3	ARPC4, ARPC4-TTLL3 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57199	GRCh38/hg38 3p25.3(chr3:9221810-9727021)x3	CPNE9, LHFPL4 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2355625	NM_001114092.2(THUMPD3):c.91G>A (p.Gly31Arg)	THUMPD3 (G31R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177269	NM_001114092.2(THUMPD3):c.115A>G (p.Thr39Ala)	THUMPD3 (T39A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269581	NM_001114092.2(THUMPD3):c.125C>T (p.Ala42Val)	THUMPD3 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509421	NM_001114092.2(THUMPD3):c.142T>C (p.Phe48Leu)	THUMPD3 (F48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270923	NM_001114092.2(THUMPD3):c.179T>A (p.Leu60His)	THUMPD3 (L60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244262	NM_001114092.2(THUMPD3):c.256C>A (p.His86Asn)	THUMPD3 (H86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221641	NM_001114092.2(THUMPD3):c.287T>C (p.Val96Ala)	THUMPD3 (V96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177274	NM_001114092.2(THUMPD3):c.292G>A (p.Val98Ile)	THUMPD3 (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366897	NM_001114092.2(THUMPD3):c.298G>C (p.Glu100Gln)	THUMPD3 (E100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238521	NM_001114092.2(THUMPD3):c.319A>G (p.Lys107Glu)	THUMPD3 (K107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366136	NM_001114092.2(THUMPD3):c.436C>T (p.Arg146Cys)	THUMPD3 (R146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177275	NM_001114092.2(THUMPD3):c.545C>T (p.Ser182Phe)	THUMPD3 (S182F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225278	NM_001114092.2(THUMPD3):c.585G>C (p.Glu195Asp)	THUMPD3 (E195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177276	NM_001114092.2(THUMPD3):c.587A>T (p.Asp196Val)	THUMPD3 (D196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177278	NM_001114092.2(THUMPD3):c.590T>G (p.Val197Gly)	THUMPD3 (V197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177279	NM_001114092.2(THUMPD3):c.610G>T (p.Asp204Tyr)	THUMPD3 (D204Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486964	NM_001114092.2(THUMPD3):c.619T>C (p.Ser207Pro)	THUMPD3 (S207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605626	NM_001114092.2(THUMPD3):c.649A>G (p.Lys217Glu)	THUMPD3 (K217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326042	NM_001114092.2(THUMPD3):c.664C>T (p.Pro222Ser)	THUMPD3 (P222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615433	NM_001114092.2(THUMPD3):c.667C>G (p.Gln223Glu)	THUMPD3 (Q223E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3177280	NM_001114092.2(THUMPD3):c.680T>G (p.Phe227Cys)	THUMPD3 (F227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529166	NM_001114092.2(THUMPD3):c.700G>C (p.Ala234Pro)	THUMPD3 (A234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326043	NM_001114092.2(THUMPD3):c.764A>G (p.Asp255Gly)	THUMPD3 (D255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454865	NM_001114092.2(THUMPD3):c.799G>C (p.Asp267His)	THUMPD3 (D267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177281	NM_001114092.2(THUMPD3):c.803T>C (p.Val268Ala)	THUMPD3 (V268A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596727	NM_001114092.2(THUMPD3):c.875G>A (p.Arg292Gln)	THUMPD3 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322252	NM_001114092.2(THUMPD3):c.973G>A (p.Asp325Asn)	THUMPD3 (D325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225793	NM_001114092.2(THUMPD3):c.1029C>G (p.Asp343Glu)	THUMPD3 (D343E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224788	NM_001114092.2(THUMPD3):c.1142T>C (p.Leu381Ser)	THUMPD3 (L381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273008	NM_001114092.2(THUMPD3):c.1247A>G (p.Lys416Arg)	THUMPD3 (K416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177271	NM_001114092.2(THUMPD3):c.1294C>T (p.Arg432Cys)	THUMPD3 (R432C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217871	NM_001114092.2(THUMPD3):c.1342A>G (p.Thr448Ala)	THUMPD3 (T448A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177272	NM_001114092.2(THUMPD3):c.1351T>C (p.Phe451Leu)	THUMPD3 (F451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596016	NM_001114092.2(THUMPD3):c.1388G>A (p.Arg463Gln)	THUMPD3 (R463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223706	NM_001114092.2(THUMPD3):c.1441G>A (p.Val481Ile)	THUMPD3 (V481I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487977	NM_001114092.2(THUMPD3):c.1448T>G (p.Ile483Arg)	THUMPD3 (I483R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398114	NM_001114092.2(THUMPD3):c.1451G>A (p.Arg484His)	THUMPD3 (R484H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400460	NM_001114092.2(THUMPD3):c.1498G>A (p.Gly500Arg)	THUMPD3 (G500R)	Single nucleotide variant (missense variant)	not specified	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 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685905	GRCh37/hg19 3p25.3(chr3:9094788-9413416)x3	SRGAP3, THUMPD3	Copy number gain	not provided	GUncertain significance
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 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2423657	NC_000003.11:g.(?_6903076)_(9517775_?)del	CAV3, GRM7 +8 more	Deletion	not provided	GPathogenic
Select item 1809128	GRCh37/hg19 3p25.3(chr3:9113024-9477562)x3	SETD5, SRGAP3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1706499	GRCh37/hg19 3p26.1-25.3(chr3:7694117-9546173)x1	SRGAP3, SSUH2 +9 more	Copy number loss	See cases	GPathogenic
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	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 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	ARPC4, ARPC4-TTLL3 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 832860	NC_000003.11:g.(?_8775553)_(9730776_?)dup	CAV3, LHFPL4 +6 more	Duplication	Long QT syndrome	GUncertain significance
Select item 818229	NC_000003.11:g.9387774_9503839del116066	SETD5, THUMPD3	Deletion	3p- syndrome	GPathogenic
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 814421	GRCh37/hg19 3p26.1-25.3(chr3:7172720-9545741)x3	THUMPD3, GRM7 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688108	GRCh37/hg19 3p25.3(chr3:8883205-9954034)x3	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 562752	GRCh37/hg19 3p25.3(chr3:9043040-9454382)x1	SRGAP3, THUMPD3 +1 more	Copy number loss	not provided	GPathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 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 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
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 443247	GRCh37/hg19 3p25.3(chr3:9425742-9481293)x1	SETD5, THUMPD3	Copy number loss	See cases	GLikely pathogenic
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 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 442033	GRCh37/hg19 3p25.3(chr3:9421663-9574327)x1	LHFPL4, SETD5 +1 more	Copy number loss	See cases	GLikely pathogenic
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 441554	GRCh37/hg19 3p25.3(chr3:9371390-9599828)x4	LHFPL4, SETD5 +1 more	Copy number gain	See cases	GLikely benign

<< First< Prev

Page of 2