ClinVar for Gene (Select 2969) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359229	NM_032999.4(GTF2I):c.1157C>T (p.Pro386Leu)	GTF2I (P345L +4 more)	Single nucleotide variant (missense variant)	GTF2I related condition	GUncertain significance
Select item 3283064	NM_032999.4(GTF2I):c.31G>A (p.Val11Ile)	GTF2I, GTF2I-AS1 (V11I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3283063	NM_032999.4(GTF2I):c.290C>T (p.Thr97Ile)	GTF2I, GTF2I-AS1 (T97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283062	NM_032999.4(GTF2I):c.542C>T (p.Ser181Leu)	GTF2I, GTF2I-AS1 (S181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
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 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3103103	NM_032999.4(GTF2I):c.634G>A (p.Gly212Ser)	GTF2I, GTF2I-AS1 (G212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103102	NM_032999.4(GTF2I):c.436T>C (p.Ser146Pro)	GTF2I, GTF2I-AS1 (S146P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103101	NM_032999.4(GTF2I):c.1667C>T (p.Thr556Met)	GTF2I, LOC106029312 (T536M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062985	GRCh37/hg19 7q11.23(chr7:73808319-74142256)x3	CLIP2, GTF2I +1 more	Copy number gain	not specified	GUncertain significance
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 2673107	NM_032999.4(GTF2I):c.2112G>T (p.Pro704=)	GTF2I, LOC106029312	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657598	NM_032999.4(GTF2I):c.2477-2A>G	GTF2I, LOC106029312	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2657597	NM_032999.4(GTF2I):c.1657C>G (p.Gln553Glu)	GTF2I, LOC106029312 (Q512E +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657596	NM_032999.4(GTF2I):c.219A>G (p.Gln73=)	GTF2I, GTF2I-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575239	GRCh37/hg19 7q11.23(chr7:72718277-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574694	GRCh37/hg19 7q11.23(chr7:72664461-74162586)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 2531098	NM_032999.4(GTF2I):c.400G>A (p.Val134Ile)	GTF2I, GTF2I-AS1 (V134I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2512883	NM_032999.4(GTF2I):c.1880C>T (p.Pro627Leu)	GTF2I, LOC106029312 (P586L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	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 2486734	NM_032999.4(GTF2I):c.1361G>C (p.Gly454Ala)	GTF2I, LOC106029312 (G433A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469103	NM_032999.4(GTF2I):c.1811C>T (p.Pro604Leu)	GTF2I, LOC106029312 (P583L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337196	NM_032999.4(GTF2I):c.2633G>A (p.Arg878Gln)	GTF2I, LOC106029312 (R837Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265738	NM_032999.4(GTF2I):c.589G>T (p.Gly197Cys)	GTF2I, GTF2I-AS1 (G197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211500	NM_032999.4(GTF2I):c.1924G>A (p.Val642Ile)	GTF2I, LOC106029312 (V601I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808834	GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808638	GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807825	GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807812	GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807742	GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	ABHD11-AS1, BAZ1B +25 more	Copy number loss	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 1706524	GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	BAZ1B, BUD23 +25 more	Copy number loss	See cases	GPathogenic
Select item 1703677	GRCh37/hg19 7q11.23(chr7:72686958-74155067)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1703596	GRCh37/hg19 7q11.23(chr7:72700127-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703595	GRCh37/hg19 7q11.23(chr7:72701084-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703594	GRCh37/hg19 7q11.23(chr7:72700942-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703593	GRCh37/hg19 7q11.23(chr7:72700996-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703592	GRCh37/hg19 7q11.23(chr7:72921550-74145628)	ABHD11, ABHD11-AS1 +21 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703591	GRCh37/hg19 7q11.23(chr7:72718123-74141784)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	BAZ1B, BCL7B +25 more	Copy number loss	Williams syndrome	GPathogenic
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 1703586	GRCh37/hg19 7q11.23(chr7:72718123-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 988936	GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 979621	GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 929343	GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3	ABHD11, ABHD11-AS1 +24 more	Copy number gain	See cases	GPathogenic
Select item 916130	NC_000007.13:g.73944168_74138459dup	GTF2IRD1, GTF2I	Duplication	Cognitive impairment	GPathogenic
Select item 830314	Single allele	FKBP6, FZD9 +25 more	Deletion	Williams syndrome	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 685959	GRCh37/hg19 7q11.23(chr7:74142189-74400363)x3	GTF2I, GTF2IRD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635960	Single allele	ABHD11, ABHD11-AS1 +24 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635959	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626296	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	not provided	GLikely pathogenic
Select item 625632	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625631	GRCh37/hg19 7q11.23(chr7:72700996-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
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 563399	GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3	MIR590, EIF4H +25 more	Copy number gain	not provided	GPathogenic
Select item 563398	GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3	MIR590, MLXIPL +25 more	Copy number gain	not provided	GPathogenic
Select item 563397	GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3	CLDN3, CLDN4 +25 more	Copy number gain	not provided	GPathogenic
Select item 563396	GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1	LIMK1, RFC2 +25 more	Copy number loss	not provided	GPathogenic
Select item 563361	GRCh37/hg19 7q11.23(chr7:73645941-74147166)x3	GTF2I, CLIP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 559583	Single allele	BCL7B, MIR590 +25 more	Duplication	Intestinal malrotation	GLikely pathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	MLXIPL, TBL2 +23 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 443917	GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443819	GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 443615	GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443516	GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1	METTL27, MIR590 +25 more	Copy number loss	See cases	GPathogenic
Select item 443396	GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443244	GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 443182	GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	See cases	GPathogenic
Select item 443008	GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3	CLDN3, ABHD11 +25 more	Copy number gain	See cases	GPathogenic
Select item 442970	GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1	ABHD11, ABHD11-AS1 +25 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 442785	GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 442651	GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 442483	GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3	ABHD11, ABHD11-AS1 +26 more	Copy number gain	See cases	GPathogenic
Select item 442389	GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	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

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