GTF2H4[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 1679763	Single allele	DDR1, GTF2H4 +8 more	Duplication	not provided	GUncertain significance
Select item 2360292	NM_001517.5(GTF2H4):c.34G>A (p.Val12Ile)	GTF2H4 (V12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103096	NM_001517.5(GTF2H4):c.116C>G (p.Ala39Gly)	GTF2H4 (A39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103097	NM_001517.5(GTF2H4):c.142C>T (p.Leu48Phe)	GTF2H4 (L48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527451	NM_001517.5(GTF2H4):c.274G>A (p.Gly92Ser)	GTF2H4 (G92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103098	NM_001517.5(GTF2H4):c.381G>C (p.Lys127Asn)	GTF2H4 (K127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291766	NM_001517.5(GTF2H4):c.483C>G (p.His161Gln)	GTF2H4 (H161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103099	NM_001517.5(GTF2H4):c.488T>C (p.Met163Thr)	GTF2H4 (M163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283061	NM_001517.5(GTF2H4):c.559A>G (p.Ser187Gly)	GTF2H4 (S187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103100	NM_001517.5(GTF2H4):c.761T>G (p.Met254Arg)	GTF2H4 (M254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403504	NM_001517.5(GTF2H4):c.962C>T (p.Ser321Leu)	GTF2H4 (S321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789744	NM_001517.5(GTF2H4):c.1065C>T (p.Ile355=)	GTF2H4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3103095	NM_001517.5(GTF2H4):c.1123G>A (p.Val375Met)	GTF2H4 (V375M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509918	NM_001517.5(GTF2H4):c.1156A>C (p.Thr386Pro)	GTF2H4 (T386P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377338	NM_001517.5(GTF2H4):c.1174C>G (p.Arg392Gly)	GTF2H4 (R392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337292	NM_001517.5(GTF2H4):c.1265T>C (p.Leu422Pro)	GTF2H4 (L422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325596	NM_001517.5(GTF2H4):c.1370G>C (p.Arg457Pro)	GTF2H4 (R457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1191473	NC_000006.12:g.30914022T>A	GTF2H4, VARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1236362	NC_000006.12:g.30914104del	GTF2H4, VARS2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 395628	GRCh37/hg19 6p21.33(chr6:30860807-30957425)x3	DDR1, GTF2H4 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 28