GTF2IRD1[gene] - ClinVar - NCBI

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	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 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 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 59305	GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 153242	GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
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 149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	LOC129998592, LOC129998593 +133 more	Copy number gain	See cases	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 149310	GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 155323	GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3	LOC129998592, LOC129998593 +129 more	Copy number gain	See cases	GPathogenic
Select item 154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 153973	GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	ABHD11, ABHD11-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149309	GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	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 59315	GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1	ABHD11, ABHD11-AS1 +129 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 58237	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 58219	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154259	GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3	DNAJC30, EIF4H +129 more	Copy number gain	See cases	GPathogenic
Select item 154824	GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	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 149308	GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59319	GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59318	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59317	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 59316	GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1	EIF4H, ELN +129 more	Copy number loss	See cases	GPathogenic
Select item 154080	GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 153978	GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 144925	GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 155565	GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58239	GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3	ABHD11, ABHD11-AS1 +128 more	Copy number gain	See cases	GPathogenic
Select item 147629	GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1	LOC129998612, LOC129998613 +128 more	Copy number loss	See cases	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 59321	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59320	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3	EIF4H, ELN +127 more	Copy number gain	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 146807	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 146803	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 146774	GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 160898	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 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 160822	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	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 32643	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 32380	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	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 59618	GRCh38/hg38 7q11.23(chr7:74163876-74593260)x3	CLIP2, EIF4H +38 more	Copy number gain	See cases	GUncertain significance
Select item 60247	GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1	CASTOR2, CLIP2 +72 more	Copy number loss	See cases	GPathogenic
Select item 57162	GRCh38/hg38 7q11.23(chr7:74177663-74718954)x1	CLIP2, EIF4H +57 more	Copy number loss	See cases	GUncertain significance
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 58895	GRCh38/hg38 7q11.23(chr7:74379999-74533556)x1	CLIP2, GTF2IRD1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 59619	GRCh38/hg38 7q11.23(chr7:74394863-74725240)x3	CLIP2, GTF2I +29 more	Copy number gain	See cases	GUncertain significance
Select item 792820	NM_005685.4(GTF2IRD1):c.27C>T (p.Asp9=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617482	NM_005685.4(GTF2IRD1):c.32C>T (p.Pro11Leu)	GTF2IRD1 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773212	NM_005685.4(GTF2IRD1):c.39C>T (p.Asn13=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283070	NM_005685.4(GTF2IRD1):c.67G>A (p.Ala23Thr)	GTF2IRD1 (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718537	NM_005685.4(GTF2IRD1):c.69G>A (p.Ala23=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301764	NM_005685.4(GTF2IRD1):c.77G>A (p.Arg26His)	GTF2IRD1 (R26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364139	NM_005685.4(GTF2IRD1):c.131C>T (p.Ala44Val)	GTF2IRD1 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052850	NM_005685.4(GTF2IRD1):c.147C>T (p.Asn49=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GLikely benign
Select item 2238218	NM_005685.4(GTF2IRD1):c.183C>A (p.Ser61Arg)	GTF2IRD1 (S61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620705	NM_005685.4(GTF2IRD1):c.184G>A (p.Ala62Thr)	GTF2IRD1 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547246	NM_005685.4(GTF2IRD1):c.193G>T (p.Val65Leu)	GTF2IRD1 (V65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103112	NM_005685.4(GTF2IRD1):c.266-79A>G	GTF2IRD1 (R95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103113	NM_005685.4(GTF2IRD1):c.266-51G>A	GTF2IRD1 (R104Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211393	NM_005685.4(GTF2IRD1):c.266-39G>C	GTF2IRD1 (R108P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057421	NM_005685.4(GTF2IRD1):c.266-20G>C	GTF2IRD1	Single nucleotide variant (synonymous variant +1 more)	GTF2IRD1-related disorder	GLikely benign
Select item 1176228	NM_005685.4(GTF2IRD1):c.266-20G>A	GTF2IRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1335672	NM_005685.4(GTF2IRD1):c.334C>T (p.Arg112Cys)	GTF2IRD1 (R112C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2471727	NM_005685.4(GTF2IRD1):c.335G>A (p.Arg112His)	GTF2IRD1 (R144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510204	NM_005685.4(GTF2IRD1):c.347G>A (p.Arg116Gln)	GTF2IRD1 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733730	NM_005685.4(GTF2IRD1):c.441C>G (p.Ala147=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2657595	NM_005685.4(GTF2IRD1):c.447G>T (p.Val149=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711001	NM_005685.4(GTF2IRD1):c.450G>A (p.Val150=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725161	NM_005685.4(GTF2IRD1):c.474C>T (p.Leu158=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755566	NM_005685.4(GTF2IRD1):c.510C>T (p.Pro170=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058945	NM_005685.4(GTF2IRD1):c.513A>G (p.Glu171=)	GTF2IRD1	Single nucleotide variant (synonymous variant)	GTF2IRD1-related disorder	GBenign

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