GTF2IRD2[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	ABHD11, ABHD11-AS1 +162 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 57313	GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	ABHD11, ABHD11-AS1 +141 more	Copy number loss	See cases	GPathogenic
Select item 148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GPathogenic
Select item 146414	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GUncertain significance
Select item 152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	ABHD11, ABHD11-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	ABHD11, ABHD11-AS1 +134 more	Copy number loss	See cases	GPathogenic
Select item 147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 58238	GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	ABHD11, ABHD11-AS1 +132 more	Copy number loss	See cases	GPathogenic
Select item 146838	GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	LOC129998611, LOC129998612 +131 more	Copy number loss	See cases	GPathogenic
Select item 160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 154623	GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	LOC129998621, LOC129998622 +134 more	Copy number gain	See cases	GPathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 57316	GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 33969	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 147810	GRCh38/hg38 7q11.23(chr7:74047652-74924037)x1	CLIP2, EIF4H +71 more	Copy number loss	See cases	GPathogenic
Select item 152805	GRCh38/hg38 7q11.23(chr7:74068087-75068321)x3	CASTOR2, CLIP2 +74 more	Copy number gain	See cases	GLikely benign
Select item 60247	GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1	CASTOR2, CLIP2 +72 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 2657602	NM_173537.5(GTF2IRD2):c.2146C>T (p.Arg716Cys)	GTF2IRD2, LOC106029312 (R524C +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2657603	NM_173537.5(GTF2IRD2):c.630C>T (p.Cys210=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611433	NM_173537.5(GTF2IRD2):c.611T>C (p.Val204Ala)	GTF2IRD2, LOC106029312 (V204A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272055	NM_173537.5(GTF2IRD2):c.605C>A (p.Ser202Tyr)	GTF2IRD2, LOC106029312 (S32Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540850	NM_173537.5(GTF2IRD2):c.563G>A (p.Ser188Asn)	GTF2IRD2, LOC106029312 (S188N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2657604	NM_173537.5(GTF2IRD2):c.491C>T (p.Thr164Ile)	GTF2IRD2, LOC106029312 (T164I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2467509	NM_173537.5(GTF2IRD2):c.488C>T (p.Ala163Val)	GTF2IRD2, LOC106029312 (A163V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467508	NM_173537.5(GTF2IRD2):c.487G>T (p.Ala163Ser)	GTF2IRD2, LOC106029312 (A163S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363676	NM_173537.5(GTF2IRD2):c.434T>C (p.Val145Ala)	GTF2IRD2, LOC106029312 (V307A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3103115	NM_173537.5(GTF2IRD2):c.365C>T (p.Ala122Val)	GTF2IRD2, LOC106029312 (A284V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521254	NM_173537.5(GTF2IRD2):c.332T>C (p.Val111Ala)	GTF2IRD2, LOC106029312 (V111A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 252793	NM_173537.5(GTF2IRD2):c.307G>A (p.Glu103Lys)	GTF2IRD2, LOC106029312 (E103K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 769216	NM_173537.5(GTF2IRD2):c.303A>G (p.Ser101=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2250938	NM_173537.5(GTF2IRD2):c.209C>T (p.Thr70Met)	GTF2IRD2, LOC106029312 (T232M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657605	NM_173537.5(GTF2IRD2):c.91G>A (p.Glu31Lys)	GTF2IRD2, LOC106029312 (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2487048	NM_173537.5(GTF2IRD2):c.68T>G (p.Val23Gly)	GTF2IRD2, LOC106029312 (V185G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657606	NM_173537.5(GTF2IRD2):c.6C>G (p.Ala2=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 814992	GRCh37/hg19 7q11.23(chr7:74245939-74507689)x1	RCC1L, GTF2IRD2	Copy number loss	not provided	GUncertain significance
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 688540	GRCh37/hg19 7q11.23(chr7:74165273-74628840)x3	GTF2I, GTF2IRD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688219	GRCh37/hg19 7q11.23(chr7:74245598-74366737)x1	GTF2IRD2	Copy number loss	not provided	GUncertain significance
Select item 687730	GRCh37/hg19 7q11.23(chr7:73799886-75388031)x1	CASTOR2, CLIP2 +10 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686090	GRCh37/hg19 7q11.23(chr7:74231100-74315640)x1	GTF2IRD2	Copy number loss	not provided	GUncertain significance
Select item 685959	GRCh37/hg19 7q11.23(chr7:74142189-74400363)x3	GTF2I, GTF2IRD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625629	GRCh37/hg19 7q11.23(chr7:72744494-74339044)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563409	GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3	BAZ1B, ABHD11 +30 more	Copy number gain	not provided	GPathogenic
Select item 563406	GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1	ABHD11-AS1, GTF2IRD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563405	GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1	STX1A, EIF4H +27 more	Copy number loss	not provided	GPathogenic
Select item 563403	GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443182	GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442280	GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1	ABHD11, ABHD11-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 441923	GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	ABHD11, ABHD11-AS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 441785	GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1	BUD23, ABHD11 +27 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 268059	GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1	FKBP6, FZD9 +26 more	Copy number loss	See cases	GPathogenic
Select item 253423	GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1	VPS37D, CLIP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253341	GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1	GTF2IRD1, CLIP2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 78