Related gene-specific medical variations for Gene (Select 2969) - ClinVar - NCBI

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Items: 19

	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 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 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 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 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 426713	NM_032999.4(GTF2I):c.356A>G (p.Tyr119Cys)	GTF2I, GTF2I-AS1 (Y119C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance