GTPBP4[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 149271	GRCh38/hg38 10p15.3-15.2(chr10:538646-3636571)x1	ADARB2, ADARB2-AS1 +86 more	Copy number loss	See cases	GUncertain significance
Select item 57853	GRCh38/hg38 10p15.3(chr10:730608-1358880)x3	ADARB2, GTPBP4 +27 more	Copy number gain	See cases	GUncertain significance
Select item 154592	GRCh38/hg38 10p15.3(chr10:899498-1339873)x3	ADARB2, GTPBP4 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148515	GRCh38/hg38 10p15.3(chr10:918720-1843751)x4	ADARB2, ADARB2-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 3103209	NM_012341.3(GTPBP4):c.125G>A (p.Arg42His)	GTPBP4 (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399146	NM_012341.3(GTPBP4):c.125G>T (p.Arg42Leu)	GTPBP4 (R42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103213	NM_012341.3(GTPBP4):c.220G>T (p.Asp74Tyr)	GTPBP4 (D74Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103214	NM_012341.3(GTPBP4):c.313T>G (p.Leu105Val)	GTPBP4 (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236726	NM_012341.3(GTPBP4):c.363C>G (p.Asp121Glu)	GTPBP4 (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381963	NM_012341.3(GTPBP4):c.395C>T (p.Ala132Val)	GTPBP4 (A132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236660	NM_012341.3(GTPBP4):c.411G>A (p.Met137Ile)	GTPBP4 (M137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388785	NM_012341.3(GTPBP4):c.457C>G (p.Gln153Glu)	GTPBP4 (Q153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355760	NM_012341.3(GTPBP4):c.493G>C (p.Asp165His)	GTPBP4 (D165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525555	NM_012341.3(GTPBP4):c.509C>T (p.Thr170Ile)	GTPBP4 (T170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480579	NM_012341.3(GTPBP4):c.590C>T (p.Pro197Leu)	GTPBP4 (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205476	NM_012341.3(GTPBP4):c.646C>T (p.Arg216Cys)	GTPBP4 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483986	NM_012341.3(GTPBP4):c.653A>T (p.Gln218Leu)	GTPBP4 (Q218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103215	NM_012341.3(GTPBP4):c.743G>A (p.Arg248His)	GTPBP4 (R248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263198	NM_012341.3(GTPBP4):c.750G>A (p.Ala250=)	GTPBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2495768	NM_012341.3(GTPBP4):c.827G>C (p.Arg276Thr)	GTPBP4 (R276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530956	NM_012341.3(GTPBP4):c.842A>G (p.Asn281Ser)	GTPBP4 (N281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556239	NM_012341.3(GTPBP4):c.850C>G (p.Leu284Val)	GTPBP4 (L284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239982	NM_012341.3(GTPBP4):c.875A>G (p.Asp292Gly)	GTPBP4 (D292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103216	NM_012341.3(GTPBP4):c.877G>A (p.Val293Met)	GTPBP4 (V293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221284	NM_012341.3(GTPBP4):c.913A>G (p.Lys305Glu)	GTPBP4 (K305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786581	NM_012341.3(GTPBP4):c.1035A>G (p.Glu345=)	GTPBP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2478779	NM_012341.3(GTPBP4):c.1123C>T (p.Pro375Ser)	GTPBP4 (P375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540127	NM_012341.3(GTPBP4):c.1133C>G (p.Pro378Arg)	GTPBP4 (P378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103208	NM_012341.3(GTPBP4):c.1214T>C (p.Met405Thr)	GTPBP4 (M405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204471	NM_012341.3(GTPBP4):c.1280A>G (p.Asp427Gly)	GTPBP4 (D427G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406994	NM_012341.3(GTPBP4):c.1395G>C (p.Glu465Asp)	GTPBP4 (E465D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543839	NM_012341.3(GTPBP4):c.1397A>T (p.Tyr466Phe)	GTPBP4 (Y466F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640270	NM_012341.3(GTPBP4):c.1527G>A (p.Pro509=)	GTPBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528543	NM_012341.3(GTPBP4):c.1531A>G (p.Thr511Ala)	GTPBP4 (T511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295690	NM_012341.3(GTPBP4):c.1548G>C (p.Gln516His)	GTPBP4 (Q516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530827	NM_012341.3(GTPBP4):c.1566G>T (p.Lys522Asn)	GTPBP4 (K522N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103211	NM_012341.3(GTPBP4):c.1603G>A (p.Asp535Asn)	GTPBP4 (D535N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283127	NM_012341.3(GTPBP4):c.1609G>A (p.Ala537Thr)	GTPBP4 (A537T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361929	NM_012341.3(GTPBP4):c.1640G>A (p.Arg547Gln)	GTPBP4 (R547Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383226	NM_012341.3(GTPBP4):c.1678C>A (p.Pro560Thr)	GTPBP4 (P560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563982	NM_012341.3(GTPBP4):c.1679C>G (p.Pro560Arg)	GTPBP4 (P560R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361947	NM_012341.3(GTPBP4):c.1682C>T (p.Pro561Leu)	GTPBP4 (P561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552308	NM_012341.3(GTPBP4):c.1696C>T (p.Arg566Trp)	GTPBP4 (R566W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222612	NM_012341.3(GTPBP4):c.1700G>A (p.Ser567Asn)	GTPBP4 (S567N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396524	NM_012341.3(GTPBP4):c.1771A>G (p.Thr591Ala)	GTPBP4 (T591A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103212	NM_012341.3(GTPBP4):c.1779G>A (p.Met593Ile)	GTPBP4 (M593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395217	NM_012341.3(GTPBP4):c.1790A>G (p.Gln597Arg)	GTPBP4 (Q597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245500	NM_012341.3(GTPBP4):c.1805G>T (p.Arg602Leu)	GTPBP4 (R602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536742	NM_012341.3(GTPBP4):c.1824G>C (p.Glu608Asp)	GTPBP4 (E608D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208792	NM_012341.3(GTPBP4):c.1846A>G (p.Met616Val)	GTPBP4 (M616V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285256	NM_033261.3(IDI2):c.650C>T (p.Pro217Leu)	GTPBP4, IDI2 (P217L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257379	NM_033261.3(IDI2):c.627G>T (p.Trp209Cys)	GTPBP4, IDI2 (W209C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108042	NM_033261.3(IDI2):c.620G>A (p.Arg207Gln)	GTPBP4, IDI2 (R207Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2252287	NM_033261.3(IDI2):c.609G>T (p.Arg203Ser)	GTPBP4, IDI2 (R203S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266803	NM_033261.3(IDI2):c.599T>C (p.Ile200Thr)	GTPBP4, IDI2 (I200T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2321611	NM_033261.3(IDI2):c.555G>C (p.Arg185Ser)	GTPBP4, IDI2 (R185S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2477416	NM_033261.3(IDI2):c.479C>T (p.Thr160Ile)	GTPBP4, IDI2 (T160I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108041	NM_033261.3(IDI2):c.410A>T (p.Lys137Met)	GTPBP4, IDI2 (K137M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148908	GRCh37/hg19 10p15.3(chr10:100048-1247374)x1	ADARB2, DIP2C +6 more	Copy number loss	See cases	GPathogenic
Select item 2684591	GRCh37/hg19 10p15.3(chr10:1006757-1443180)x3	ADARB2, GTPBP4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809451	GRCh37/hg19 10p15.3(chr10:307769-1845696)x4	ADARB2, DIP2C +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808290	GRCh37/hg19 10p15.3(chr10:885585-1297727)x3	ADARB2, GTPBP4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527574	GRCh37/hg19 10p15.3(chr10:820472-1526667)	ADARB2, GTPBP4 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 980912	GRCh37/hg19 10p15.3(chr10:861722-1064023)x3	GTPBP4, LARP4B	Copy number gain	not provided	GUncertain significance
Select item 980370	GRCh37/hg19 10p15.3(chr10:100026-1281266)x1	WDR37, ZMYND11 +6 more	Copy number loss	not provided	GPathogenic
Select item 815311	GRCh37/hg19 10p15.3(chr10:970276-1236463)x3	IDI2, WDR37 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815309	GRCh37/hg19 10p15.3-15.1(chr10:100026-4433206)x3	IDI2, PFKP +9 more	Copy number gain	not provided	GPathogenic
Select item 688067	GRCh37/hg19 10p15.3(chr10:999613-1171064)x3	GTPBP4, IDI1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 563772	GRCh37/hg19 10p15.3(chr10:116045-1573221)x1	DIP2C, WDR37 +6 more	Copy number loss	not provided	GPathogenic
Select item 523245	GRCh37/hg19 10p15.3(chr10:751998-1748992)	ADARB2, GTPBP4 +4 more	Copy number gain	Cognitive impairment +1 more	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442761	GRCh37/hg19 10p15.3-15.1(chr10:100026-4853435)x3	ADARB2, DIP2C +9 more	Copy number gain	See cases	GUncertain significance
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441537	GRCh37/hg19 10p15.3-15.1(chr10:100026-4761588)x1	LARP4B, IDI2 +9 more	Copy number loss	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 202235	GRCh37/hg19 10p15.3-15.1(chr10:138878-5160945)x3	IDI2, KLF6 +13 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 100