Related gene-specific medical variations for Gene (Select 7528) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068234	NM_003403.5(YY1):c.818C>A (p.Pro273His)	YY1 (P273H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2690488	NM_003403.5(YY1):c.487G>A (p.Gly163Ser)	YY1 (G163S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely benign
Select item 2644519	NM_003403.5(YY1):c.9G>A (p.Ser3=)	LOC130056452, YY1	Single nucleotide variant (synonymous variant)	YY1-related disorder +1 more	GLikely benign
Select item 2569584	NM_003403.5(YY1):c.550A>G (p.Ser184Gly)	LOC130056453, YY1 (S184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444518	NM_003403.5(YY1):c.458_476del (p.Val153fs)	YY1 (V153fs)	Deletion (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
Select item 2442758	NM_003403.5(YY1):c.674C>T (p.Ser225Phe)	LOC130056454, YY1 (S225F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441948	NM_003403.5(YY1):c.1112G>A (p.Arg371His)	YY1 (R371H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 2438634	NM_003403.5(YY1):c.188G>A (p.Gly63Asp)	YY1 (G63D)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2438633	NM_003403.5(YY1):c.166G>A (p.Gly56Ser)	YY1 (G56S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2307699	NM_003403.5(YY1):c.541G>T (p.Gly181Cys)	LOC130056453, YY1 (G181C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341784	NM_003403.5(YY1):c.608A>G (p.Lys203Arg)	YY1 (K203R)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1333898	NM_003403.5(YY1):c.514G>T (p.Val172Phe)	LOC130056453, YY1 (V172F)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1184871	NM_003403.5(YY1):c.1220A>G (p.His407Arg)	YY1 (H407R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1029703	NM_003403.5(YY1):c.527G>A (p.Gly176Asp)	LOC130056453, YY1 (G176D)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1029702	NM_003403.5(YY1):c.-5C>T	LOC130056452, YY1	Single nucleotide variant (5 prime UTR variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 996852	NM_003403.5(YY1):c.202G>A (p.Ala68Thr)	YY1 (A68T)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 980621	GRCh37/hg19 14q32.2(chr14:100655021-100742092)x1	YY1	Copy number loss	not provided	GLikely pathogenic
Select item 545935	NM_003403.5(YY1):c.550_551del (p.Ser184fs)	LOC130056453, YY1 (S184fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 430621	NM_003403.5(YY1):c.535A>T (p.Lys179Ter)	LOC130056453, YY1 (K179*)	Single nucleotide variant (nonsense)	Gabriele de Vries syndrome	GPathogenic
Select item 91950	NM_003403.5(YY1):c.1115C>G (p.Thr372Arg)	YY1 (T372R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 20