GTF2A1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 3283041	NM_015859.4(GTF2A1):c.1092T>G (p.Asp364Glu)	GTF2A1 (D325E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103019	NM_015859.4(GTF2A1):c.893A>T (p.Asp298Val)	GTF2A1 (D248V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352301	NM_015859.4(GTF2A1):c.885G>T (p.Glu295Asp)	GTF2A1 (E295D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407405	NM_015859.4(GTF2A1):c.867A>C (p.Glu289Asp)	GTF2A1 (E289D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221400	NM_015859.4(GTF2A1):c.747G>C (p.Gln249His)	GTF2A1 (Q199H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103018	NM_015859.4(GTF2A1):c.707T>C (p.Ile236Thr)	GTF2A1 (I197T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235537	NM_015859.4(GTF2A1):c.622C>T (p.Pro208Ser)	GTF2A1 (P158S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455863	NM_015859.4(GTF2A1):c.509A>G (p.Asn170Ser)	GTF2A1 (N131S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148944	GRCh37/hg19 14q24.3-31.3(chr14:79068206-87464634)x1	CEP128, DIO2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 3063337	GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3	CEP128, DIO2 +5 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 980616	GRCh37/hg19 14q31.1(chr14:81346209-81655518)x3	CEP128, GTF2A1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 24