GTF2IRD2B[gene] - ClinVar

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Items: 51

	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 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 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 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 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 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 57158	GRCh38/hg38 7q11.23(chr7:75065669-75704220)x1	GTF2IRD2B, HIP1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 3103116	NM_001003795.3(GTF2IRD2B):c.19T>C (p.Ser7Pro)	GTF2IRD2B, LOC106029313 (S7P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492797	NM_001003795.3(GTF2IRD2B):c.46T>C (p.Ser16Pro)	GTF2IRD2B, LOC106029313 (S178P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283075	NM_001003795.3(GTF2IRD2B):c.79G>A (p.Val27Met)	GTF2IRD2B, LOC106029313 (V189M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283076	NM_001003795.3(GTF2IRD2B):c.83C>G (p.Ser28Cys)	GTF2IRD2B, LOC106029313 (S28C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603966	NM_001003795.3(GTF2IRD2B):c.167T>C (p.Val56Ala)	GTF2IRD2B, LOC106029313 (V56A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221386	NM_001003795.3(GTF2IRD2B):c.209C>T (p.Thr70Met)	GTF2IRD2B, LOC106029313 (T232M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390165	NM_001003795.3(GTF2IRD2B):c.302C>T (p.Ser101Leu)	GTF2IRD2B (S263L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377042	NM_001003795.3(GTF2IRD2B):c.307G>A (p.Glu103Lys)	GTF2IRD2B (E103K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283074	NM_001003795.3(GTF2IRD2B):c.311C>T (p.Thr104Met)	GTF2IRD2B (T266M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207587	NM_001003795.3(GTF2IRD2B):c.422C>T (p.Ser141Leu)	GTF2IRD2B (S141L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103117	NM_001003795.3(GTF2IRD2B):c.446C>T (p.Pro149Leu)	GTF2IRD2B (P149L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600275	NM_001003795.3(GTF2IRD2B):c.761C>G (p.Ser254Cys)	GTF2IRD2B (S254C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228845	NM_001003795.3(GTF2IRD2B):c.770G>A (p.Ser257Asn)	GTF2IRD2B (S257N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103118	NM_001003795.3(GTF2IRD2B):c.886T>A (p.Ser296Thr)	GTF2IRD2B (S458T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657608	NM_001003795.3(GTF2IRD2B):c.2628G>C (p.Thr876=)	GTF2IRD2B	Single nucleotide variant (synonymous variant)	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 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 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 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 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 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 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 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
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 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	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: 51