ClinVar for Gene (Select 9330) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363140	NM_012086.5(GTF3C3):c.2469G>C (p.Gln823His)	GTF3C3 (Q823H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 3283100	NM_012086.5(GTF3C3):c.1843G>A (p.Val615Met)	GTF3C3 (V615M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283099	NM_012086.5(GTF3C3):c.1811C>T (p.Ser604Leu)	GTF3C3 (S604L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283098	NM_012086.5(GTF3C3):c.2274A>C (p.Gln758His)	GTF3C3 (Q758H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233390	NM_012086.5(GTF3C3):c.1390+3A>G	GTF3C3	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 3103164	NM_012086.5(GTF3C3):c.980A>T (p.Glu327Val)	GTF3C3 (E327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103163	NM_012086.5(GTF3C3):c.629C>T (p.Ala210Val)	GTF3C3 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103162	NM_012086.5(GTF3C3):c.2644A>G (p.Thr882Ala)	GTF3C3 (T882A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103161	NM_012086.5(GTF3C3):c.2098C>T (p.Pro700Ser)	GTF3C3 (P700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103159	NM_012086.5(GTF3C3):c.1963T>C (p.Tyr655His)	GTF3C3 (Y655H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103158	NM_012086.5(GTF3C3):c.1855G>A (p.Val619Ile)	GTF3C3 (V619I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3057070	NM_012086.5(GTF3C3):c.209A>G (p.Asn70Ser)	GTF3C3 (N70S)	Single nucleotide variant (missense variant)	GTF3C3-related disorder	GBenign
Select item 3052057	NM_012086.5(GTF3C3):c.309GGA[8] (p.Glu111_Thr112insGlu)	GTF3C3	Microsatellite	GTF3C3-related disorder	GLikely benign
Select item 3049059	NM_012086.5(GTF3C3):c.1920C>G (p.Ser640=)	GTF3C3	Single nucleotide variant (synonymous variant)	GTF3C3-related disorder	GLikely benign
Select item 3042047	NM_012086.5(GTF3C3):c.338C>G (p.Pro113Arg)	GTF3C3 (P113R)	Single nucleotide variant (missense variant)	GTF3C3-related disorder	GBenign
Select item 3038925	NM_012086.5(GTF3C3):c.1854C>T (p.Ser618=)	GTF3C3	Single nucleotide variant (synonymous variant)	GTF3C3-related disorder	GLikely benign
Select item 3038834	NM_012086.5(GTF3C3):c.2069+10C>T	GTF3C3	Single nucleotide variant (intron variant)	GTF3C3-related disorder	GLikely benign
Select item 3037273	NM_012086.5(GTF3C3):c.2524C>G (p.Pro842Ala)	GTF3C3 (P842A)	Single nucleotide variant (missense variant)	GTF3C3-related disorder	GLikely benign
Select item 3033906	NM_012086.5(GTF3C3):c.630G>A (p.Ala210=)	GTF3C3	Single nucleotide variant (synonymous variant)	GTF3C3-related disorder	GLikely benign
Select item 2685871	GRCh37/hg19 2q32.3-33.1(chr2:197241559-198122706)x3	ANKRD44, C2orf66 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2681308	NM_012086.5(GTF3C3):c.951C>T (p.Phe317=)	GTF3C3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2609382	NM_012086.5(GTF3C3):c.358G>A (p.Asp120Asn)	GTF3C3 (D120N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605871	NM_012086.5(GTF3C3):c.2630A>T (p.Gln877Leu)	GTF3C3 (Q877L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605539	NM_012086.5(GTF3C3):c.350C>G (p.Thr117Ser)	GTF3C3 (T117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594294	NM_012086.5(GTF3C3):c.353C>T (p.Ala118Val)	GTF3C3 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2545251	NM_012086.5(GTF3C3):c.2093A>G (p.Asn698Ser)	GTF3C3 (N698S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541676	NM_012086.5(GTF3C3):c.2255C>G (p.Ala752Gly)	GTF3C3 (A752G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510920	NM_012086.5(GTF3C3):c.2180T>C (p.Leu727Pro)	GTF3C3 (L727P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464171	NM_012086.5(GTF3C3):c.119G>A (p.Gly40Asp)	GTF3C3 (G40D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400513	NM_012086.5(GTF3C3):c.1190T>C (p.Val397Ala)	GTF3C3 (V397A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398671	NM_012086.5(GTF3C3):c.587A>G (p.Gln196Arg)	GTF3C3 (Q196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325025	NM_012086.5(GTF3C3):c.2315G>C (p.Cys772Ser)	GTF3C3 (C772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269408	NM_012086.5(GTF3C3):c.1337C>T (p.Ala446Val)	GTF3C3 (A446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267854	NM_012086.5(GTF3C3):c.32A>C (p.Tyr11Ser)	GTF3C3 (Y11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241824	NM_012086.5(GTF3C3):c.1200C>A (p.Asn400Lys)	GTF3C3 (N400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207127	NM_012086.5(GTF3C3):c.827G>A (p.Arg276His)	GTF3C3 (R276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1699107	NM_012086.5(GTF3C3):c.1420C>T (p.Arg474Ter)	GTF3C3 (R474*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	ANKRD44, BOLL +16 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	PGAP1, PLCL1 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 562614	GRCh37/hg19 2q32.3-33.1(chr2:197322697-198094657)x3	GTF3C3, ANKRD44 +4 more	Copy number gain	not provided	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 71