THBS4[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 2378316	NM_003248.6(THBS4):c.83C>G (p.Pro28Arg)	THBS4 (P28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411652	NM_003248.6(THBS4):c.91T>C (p.Phe31Leu)	THBS4 (F31L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2456283	NM_003248.6(THBS4):c.133G>A (p.Ala45Thr)	THBS4 (A45T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2533043	NM_003248.6(THBS4):c.146T>C (p.Val49Ala)	THBS4 (V49A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338212	NM_003248.6(THBS4):c.158C>T (p.Pro53Leu)	THBS4 (P53L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3177002	NM_003248.6(THBS4):c.179T>G (p.Val60Gly)	THBS4 (V60G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2281930	NM_003248.6(THBS4):c.200A>G (p.Gln67Arg)	THBS4 (Q67R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325882	NM_003248.6(THBS4):c.281G>A (p.Arg94His)	THBS4 (R3H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461333	NM_003248.6(THBS4):c.295A>G (p.Ile99Val)	THBS4 (I8V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2272841	NM_003248.6(THBS4):c.301C>T (p.Arg101Cys)	THBS4 (R101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325884	NM_003248.6(THBS4):c.373C>T (p.His125Tyr)	THBS4 (H125Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333208	NM_003248.6(THBS4):c.388A>G (p.Arg130Gly)	THBS4 (R39G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783438	NM_003248.6(THBS4):c.423A>G (p.Leu141=)	THBS4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2614097	NM_003248.6(THBS4):c.475G>A (p.Ala159Thr)	THBS4 (A68T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536122	NM_003248.6(THBS4):c.539A>G (p.Gln180Arg)	THBS4 (Q180R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177010	NM_003248.6(THBS4):c.544T>C (p.Phe182Leu)	THBS4 (F182L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355276	NM_003248.6(THBS4):c.622A>T (p.Ser208Cys)	THBS4 (S208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177011	NM_003248.6(THBS4):c.634G>A (p.Ala212Thr)	THBS4 (A121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355085	NM_003248.6(THBS4):c.679A>G (p.Met227Val)	THBS4 (M136V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493556	NM_003248.6(THBS4):c.718C>T (p.Leu240Phe)	THBS4 (L240F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024840	NM_003248.6(THBS4):c.785-3T>G	THBS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2535144	NM_003248.6(THBS4):c.806C>T (p.Pro269Leu)	THBS4 (P269L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177013	NM_003248.6(THBS4):c.853C>T (p.Arg285Cys)	THBS4 (R285C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177014	NM_003248.6(THBS4):c.865C>T (p.Arg289Trp)	THBS4 (R198W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223628	NM_003248.6(THBS4):c.881C>T (p.Pro294Leu)	THBS4 (P203L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278378	NM_003248.6(THBS4):c.895G>T (p.Val299Phe)	THBS4 (V299F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177015	NM_003248.6(THBS4):c.907G>A (p.Asp303Asn)	THBS4 (D303N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176997	NM_003248.6(THBS4):c.1026A>G (p.Ile342Met)	THBS4 (I251M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284024	NM_003248.6(THBS4):c.1039G>C (p.Gly347Arg)	THBS4 (G347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206143	NM_003248.6(THBS4):c.1120A>G (p.Lys374Glu)	THBS4 (K283E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272922	NM_003248.6(THBS4):c.1160C>T (p.Ala387Val)	THBS4 (A387V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176998	NM_003248.6(THBS4):c.1175C>T (p.Ser392Leu)	THBS4 (S301L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551770	NM_003248.6(THBS4):c.1192T>G (p.Leu398Val)	THBS4 (L307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176999	NM_003248.6(THBS4):c.1222C>G (p.Pro408Ala)	THBS4, THBS4-AS1 (P408A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779423	NM_003248.6(THBS4):c.1259C>T (p.Ala420Val)	THBS4, THBS4-AS1 (A329V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387503	NM_003248.6(THBS4):c.1357G>A (p.Gly453Ser)	LOC126807434, THBS4 +1 more (G362S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177000	NM_003248.6(THBS4):c.1447A>C (p.Lys483Gln)	LOC126807434, THBS4 +1 more (K483Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177001	NM_003248.6(THBS4):c.1525G>A (p.Glu509Lys)	LOC126807434, THBS4 +1 more (E418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383953	NM_003248.6(THBS4):c.1555G>A (p.Glu519Lys)	LOC126807434, THBS4 +1 more (E428K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510759	NM_003248.6(THBS4):c.1561G>A (p.Asp521Asn)	LOC126807434, THBS4 +1 more (D521N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551586	NM_003248.6(THBS4):c.1625C>T (p.Ala542Val)	LOC126807434, THBS4 +1 more (A451V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351957	NM_003248.6(THBS4):c.1742A>G (p.Asn581Ser)	THBS4, THBS4-AS1 (N490S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404302	NM_003248.6(THBS4):c.1771C>T (p.Arg591Trp)	THBS4, THBS4-AS1 (R500W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294054	NM_003248.6(THBS4):c.1838A>G (p.Gln613Arg)	THBS4, THBS4-AS1 (Q613R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177003	NM_003248.6(THBS4):c.1883A>G (p.Asn628Ser)	THBS4, THBS4-AS1 (N628S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 190255	NM_003248.6(THBS4):c.1885C>T (p.Gln629Ter)	THBS4, THBS4-AS1 (Q629* +1 more)	Single nucleotide variant (nonsense)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 784051	NM_003248.6(THBS4):c.1936G>A (p.Val646Ile)	THBS4, THBS4-AS1 (V555I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2218283	NM_003248.6(THBS4):c.1981G>A (p.Asp661Asn)	THBS4, THBS4-AS1 (D570N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335221	NM_003248.6(THBS4):c.2065C>A (p.Pro689Thr)	THBS4, THBS4-AS1 (P598T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397989	NM_003248.6(THBS4):c.2089G>A (p.Asp697Asn)	THBS4, THBS4-AS1 (D606N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610434	NM_003248.6(THBS4):c.2092G>A (p.Gly698Arg)	THBS4, THBS4-AS1 (G698R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485203	NM_003248.6(THBS4):c.2095G>A (p.Val699Met)	THBS4, THBS4-AS1 (V699M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476642	NM_003248.6(THBS4):c.2125C>G (p.Gln709Glu)	THBS4, THBS4-AS1 (Q618E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325885	NM_003248.6(THBS4):c.2185G>A (p.Asp729Asn)	THBS4, THBS4-AS1 (D638N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538445	NM_003248.6(THBS4):c.2239G>A (p.Asp747Asn)	THBS4, THBS4-AS1 (D656N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177004	NM_003248.6(THBS4):c.2269A>G (p.Met757Val)	THBS4, THBS4-AS1 (M666V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455789	NM_003248.6(THBS4):c.2320A>G (p.Thr774Ala)	LOC126807435, THBS4 +1 more (T774A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177005	NM_003248.6(THBS4):c.2321C>T (p.Thr774Ile)	LOC126807435, THBS4 +1 more (T683I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177006	NM_003248.6(THBS4):c.2382C>A (p.Asp794Glu)	LOC126807435, THBS4 +1 more (D794E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606724	NM_003248.6(THBS4):c.2407C>G (p.Gln803Glu)	LOC126807435, THBS4 +1 more (Q712E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300491	NM_003248.6(THBS4):c.2428G>A (p.Val810Met)	LOC126807435, THBS4 +1 more (V810M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533242	NM_003248.6(THBS4):c.2458T>C (p.Tyr820His)	LOC126807435, THBS4 +1 more (Y729H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177007	NM_003248.6(THBS4):c.2567C>T (p.Thr856Met)	LOC126807435, THBS4 +1 more (T765M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749715	NM_003248.6(THBS4):c.2728G>A (p.Val910Ile)	THBS4, THBS4-AS1 (V819I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3177008	NM_003248.6(THBS4):c.2729T>G (p.Val910Gly)	THBS4, THBS4-AS1 (V819G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3177009	NM_003248.6(THBS4):c.2741C>T (p.Thr914Ile)	THBS4, THBS4-AS1 (T823I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2239324	NM_003248.6(THBS4):c.2791A>C (p.Ile931Leu)	THBS4, THBS4-AS1 (I840L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2213826	NM_003248.6(THBS4):c.2869G>A (p.Asp957Asn)	THBS4, THBS4-AS1 (D957N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727042	NM_003248.6(THBS4):c.2877C>T (p.Phe959=)	THBS4, THBS4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605405	NM_003248.6(THBS4):c.2880T>A (p.Asp960Glu)	THBS4, THBS4-AS1 (D869E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809031	GRCh37/hg19 5q14.1(chr5:79153778-79683392)x1	MTX3, SERINC5 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527174	GRCh37/hg19 5q14.1(chr5:79153777-79683363)	MTX3, SERINC5 +2 more	Copy number loss	not specified	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 79