GTF3C5[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 2389456	NM_012087.4(GTF3C5):c.19G>T (p.Asp7Tyr)	GTF3C5 (D7Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103179	NM_012087.4(GTF3C5):c.20A>G (p.Asp7Gly)	GTF3C5 (D7G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558295	NM_012087.4(GTF3C5):c.40G>A (p.Val14Ile)	GTF3C5 (V14I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2403132	NM_012087.4(GTF3C5):c.58C>T (p.Arg20Trp)	GTF3C5 (R20W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604142	NM_012087.4(GTF3C5):c.115A>G (p.Met39Val)	GTF3C5 (M39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246718	NM_012087.4(GTF3C5):c.145G>A (p.Val49Ile)	GTF3C5 (V49I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556806	NM_012087.4(GTF3C5):c.175A>G (p.Arg59Gly)	GTF3C5 (R59G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410310	NM_012087.4(GTF3C5):c.232C>T (p.Arg78Cys)	GTF3C5 (R78C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356173	NM_012087.4(GTF3C5):c.259C>T (p.Arg87Cys)	GTF3C5 (R87C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406726	NM_012087.4(GTF3C5):c.260G>T (p.Arg87Leu)	GTF3C5 (R87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513357	NM_012087.4(GTF3C5):c.290G>T (p.Gly97Val)	GTF3C5 (G97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380905	NM_012087.4(GTF3C5):c.418G>A (p.Gly140Ser)	GTF3C5 (G140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103180	NM_012087.4(GTF3C5):c.458G>A (p.Arg153Gln)	GTF3C5 (R153Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2413193	NM_012087.4(GTF3C5):c.463G>T (p.Glu155Ter)	GTF3C5 (E155*)	Single nucleotide variant (nonsense +1 more)	Multisystem developmental disorder	GUncertain significance
Select item 2392514	NM_012087.4(GTF3C5):c.494C>T (p.Pro165Leu)	GTF3C5 (P165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2413194	NM_012087.4(GTF3C5):c.506C>T (p.Pro169Leu)	GTF3C5 (P169L)	Single nucleotide variant (missense variant +1 more)	Multisystem developmental disorder	GUncertain significance
Select item 3103181	NM_012087.4(GTF3C5):c.599C>T (p.Ser200Leu)	GTF3C5 (S26L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103182	NM_012087.4(GTF3C5):c.644A>G (p.Asn215Ser)	GTF3C5 (N215S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103183	NM_012087.4(GTF3C5):c.663T>G (p.Phe221Leu)	GTF3C5 (F221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389423	NM_012087.4(GTF3C5):c.736G>A (p.Val246Met)	GTF3C5 (V246M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103184	NM_012087.4(GTF3C5):c.743G>A (p.Arg248Gln)	GTF3C5 (R74Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2428496	NM_012087.4(GTF3C5):c.781C>T (p.Arg261Cys)	GTF3C5 (R261C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2295565	NM_012087.4(GTF3C5):c.828C>G (p.His276Gln)	GTF3C5 (H102Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306328	NM_012087.4(GTF3C5):c.947A>T (p.Tyr316Phe)	GTF3C5 (Y316F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592686	NM_012087.4(GTF3C5):c.989G>A (p.Gly330Asp)	GTF3C5 (G156D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103185	NM_012087.4(GTF3C5):c.994G>A (p.Ala332Thr)	GTF3C5 (A332T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592491	NM_012087.4(GTF3C5):c.1010C>T (p.Pro337Leu)	GTF3C5 (P163L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263314	NM_012087.4(GTF3C5):c.1040A>G (p.Tyr347Cys)	GTF3C5 (Y347C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103174	NM_012087.4(GTF3C5):c.1045C>T (p.Leu349Phe)	GTF3C5 (L175F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103175	NM_012087.4(GTF3C5):c.1118C>T (p.Ser373Leu)	GTF3C5 (S199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611363	NM_012087.4(GTF3C5):c.1129G>A (p.Gly377Ser)	GTF3C5 (G203S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363956	NM_012087.4(GTF3C5):c.1135C>T (p.Arg379Trp)	GTF3C5 (R205W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364809	NM_012087.4(GTF3C5):c.1136G>A (p.Arg379Gln)	GTF3C5 (R205Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224112	NM_012087.4(GTF3C5):c.1155G>C (p.Lys385Asn)	GTF3C5 (K211N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587992	NM_012087.4(GTF3C5):c.1167+148C>T	GTF3C5 (T394I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103176	NM_012087.4(GTF3C5):c.1180A>C (p.Ile394Leu)	GTF3C5 (I220L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238698	NM_012087.4(GTF3C5):c.1251G>C (p.Glu417Asp)	GTF3C5 (E424D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387988	NM_012087.4(GTF3C5):c.1279G>C (p.Gly427Arg)	GTF3C5 (G253R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103177	NM_012087.4(GTF3C5):c.1346A>G (p.Asp449Gly)	GTF3C5 (D275G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246856	NM_012087.4(GTF3C5):c.1349C>T (p.Thr450Ile)	GTF3C5 (T457I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385021	NM_012087.4(GTF3C5):c.1367G>A (p.Arg456Gln)	GTF3C5 (R456Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535115	NM_012087.4(GTF3C5):c.1372A>G (p.Thr458Ala)	GTF3C5 (T465A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207022	NM_012087.4(GTF3C5):c.1378C>T (p.Arg460Cys)	GTF3C5 (R467C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103178	NM_012087.4(GTF3C5):c.1396C>G (p.Leu466Val)	GTF3C5 (L292V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 1808330	GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3	BARHL1, CEL +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1409567	NC_000009.11:g.(?_135819930)_(135946065_?)dup	CEL, GFI1B +2 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 1399108	NC_000009.11:g.(?_135819930)_(135942602_?)dup	CEL, GFI1B +2 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	FAM163B, GBGT1 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 815302	GRCh37/hg19 9q34.2(chr9:135920220-136139686)x1	ABO, CEL +4 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685002	GRCh37/hg19 9q34.13-34.2(chr9:135699918-136011082)x3	AK8, CEL +5 more	Copy number gain	not provided	GUncertain significance
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	CAMSAP1, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394160	GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3	ABO, CEL +13 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 86