GTF2H2[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 549599	NC_000005.9:g.68818173_70657747del1839575	GTF2H2, GTF2H2C +12 more	Deletion	Primary amenorrhea	GBenign
Select item 549600	NC_000005.10:g.69553767_71361920dup	GTF2H2, GTF2H2C +11 more	Duplication	Primary amenorrhea	GBenign
Select item 150655	GRCh38/hg38 5q13.2(chr5:69553776-71317498)x1	GTF2H2, GTF2H2C +10 more	Copy number loss	See cases	GBenign
Select item 150172	GRCh38/hg38 5q13.2(chr5:69568368-71317498)x1	GTF2H2, GTF2H2C +9 more	Copy number loss	See cases	GLikely benign
Select item 144560	GRCh38/hg38 5q13.2(chr5:69640103-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 154352	GRCh38/hg38 5q13.2(chr5:69679482-71193646)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154341	GRCh38/hg38 5q13.2(chr5:69679482-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 144258	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 144257	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 144186	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 32259	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 154418	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154407	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 145397	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 145327	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign/Likely benign
Select item 150010	GRCh38/hg38 5q13.2(chr5:70076623-71090767)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 146734	GRCh38/hg38 5q13.2(chr5:70076623-71291192)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 153027	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 153007	GRCh38/hg38 5q13.2(chr5:70076645-71090773)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 144507	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 146957	GRCh38/hg38 5q13.2(chr5:70409765-71090744)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 149822	GRCh38/hg38 5q13.2(chr5:70436335-71090767)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 146873	GRCh38/hg38 5q13.2(chr5:70436335-71291192)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 144148	GRCh38/hg38 5q13.2(chr5:70436365-71291191)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 57277	GRCh38/hg38 5q13.2(chr5:70436365-71090773)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 57276	GRCh38/hg38 5q13.2(chr5:70436365-71090773)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 57058	GRCh38/hg38 5q13.2(chr5:70436365-71420835)x1	GTF2H2, LINC02197 +6 more	Copy number loss	See cases	GBenign
Select item 32199	GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 549601	NC_000005.9:g.69741318_70422356del681039	GTF2H2, LOC111089946 +5 more	Deletion	Primary amenorrhea	GBenign
Select item 549602	NC_000005.9:g.69767948_70345611del577664	GTF2H2, LOC111089946 +4 more	Deletion	Primary amenorrhea	GBenign
Select item 144467	GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 144400	GRCh38/hg38 5q13.2(chr5:70547802-71291191)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 145341	GRCh38/hg38 5q13.2(chr5:70547824-71291192)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 150951	GRCh38/hg38 5q13.2(chr5:70951942-71291192)x1	GTF2H2, LOC111089946 +3 more	Copy number loss	See cases	GBenign/Likely benign
Select item 549603	NC_000005.9:g.70308101_70657747del349647	GTF2H2, LINC02197 +3 more	Deletion	Primary amenorrhea	GBenign
Select item 3103090	NM_001515.4(GTF2H2):c.806C>T (p.Pro269Leu)	GTF2H2 (P252L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311536	NM_001515.4(GTF2H2):c.800C>T (p.Ala267Val)	GTF2H2 (A210V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103089	NM_001515.4(GTF2H2):c.796G>T (p.Asp266Tyr)	GTF2H2 (D209Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103088	NM_001515.4(GTF2H2):c.706G>C (p.Val236Leu)	GTF2H2 (V179L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349740	NM_001515.4(GTF2H2):c.685A>C (p.Lys229Gln)	GTF2H2 (K212Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776590	NM_001515.4(GTF2H2):c.654G>A (p.Thr218=)	GTF2H2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3283058	NM_001515.4(GTF2H2):c.617G>A (p.Arg206His)	GTF2H2 (R149H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283059	NM_001515.4(GTF2H2):c.589T>A (p.Ser197Thr)	GTF2H2 (S180T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549037	NM_001515.4(GTF2H2):c.572C>T (p.Ala191Val)	GTF2H2 (A134V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323736	NM_001515.4(GTF2H2):c.440A>C (p.Asn147Thr)	GTF2H2 (N130T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360312	NM_001515.4(GTF2H2):c.433C>T (p.Leu145Phe)	GTF2H2 (L128F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103087	NM_001515.4(GTF2H2):c.403G>A (p.Val135Met)	GTF2H2 (V118M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283060	NM_001515.4(GTF2H2):c.386C>A (p.Thr129Lys)	GTF2H2 (T73K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103086	NM_001515.4(GTF2H2):c.139T>C (p.Phe47Leu)	GTF2H2 (F47L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 979682	GRCh37/hg19 5q13.2(chr5:68831650-70663428)x1	GTF2H2, GTF2H2C +6 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 60