C0268155[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557909	NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer)	GALK1, ITGB4	Deletion (nonsense)	Deficiency of galactokinase +1 more	GConflicting classifications of pathogenicity
Select item 552889	NM_000213.5(ITGB4):c.5218+2T>C	GALK1, ITGB4	Single nucleotide variant (splice donor variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +5 more	GConflicting classifications of pathogenicity
Select item 555296	NC_000017.11:g.75757228_75757232del	GALK1, ITGB4 (G1680fs +2 more)	Deletion (frameshift variant)	Deficiency of galactokinase	GUncertain significance
Select item 556196	NM_000154.1(GALK1):c.*620G>A	GALK1, ITGB4 (Q1767* +2 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of galactokinase	GUncertain significance
Select item 5631	NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)	GALK1 (Q382*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GPathogenic
Select item 553541	NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)	GALK1 (G349S)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GConflicting classifications of pathogenicity
Select item 551596	NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	GALK1 (T344M)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GPathogenic/Likely pathogenic
Select item 557265	NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)	GALK1 (Y339*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 551344	NM_000154.2(GALK1):c.1012dup (p.Val338fs)	GALK1 (V338fs)	Duplication (frameshift variant)	Deficiency of galactokinase	GConflicting classifications of pathogenicity
Select item 554737	NM_000154.2(GALK1):c.944+1G>T	GALK1	Single nucleotide variant (splice donor variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 557932	NM_000154.2(GALK1):c.919_921del (p.Met307del)	GALK1 (M307del)	Deletion (inframe_deletion)	Deficiency of galactokinase	GConflicting classifications of pathogenicity
Select item 558505	NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	GALK1 (I285fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GPathogenic/Likely pathogenic
Select item 198048	NM_000154.2(GALK1):c.863C>T (p.Thr288Met)	GALK1 (T288M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557453	NM_000154.2(GALK1):c.841G>A (p.Val281Met)	GALK1 (V281M)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GConflicting classifications of pathogenicity
Select item 557402	NM_000154.2(GALK1):c.830G>A (p.Arg277Gln)	GALK1 (R277Q)	Single nucleotide variant (missense variant)	Deficiency of galactokinase +1 more	GUncertain significance
Select item 552552	NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)	GALK1 (G274D)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GUncertain significance
Select item 558300	NM_000154.2(GALK1):c.716G>A (p.Arg239Gln)	GALK1 (R239Q)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GUncertain significance
Select item 557995	NM_000154.2(GALK1):c.689_711dup (p.Val238fs)	GALK1 (V238fs)	Duplication (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 555178	NM_000154.2(GALK1):c.612-1G>A	GALK1	Single nucleotide variant (splice acceptor variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 5633	NM_000154.2(GALK1):c.593C>T (p.Ala198Val)	GALK1 (A198V)	Single nucleotide variant (missense variant)	Deficiency of galactokinase +1 more	GConflicting classifications of pathogenicity
Select item 554016	NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)	GALK1 (E174K)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GConflicting classifications of pathogenicity
Select item 555029	NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del)	GALK1 (Q172del)	Microsatellite (inframe_deletion)	Deficiency of galactokinase	GUncertain significance
Select item 557595	NM_000154.2(GALK1):c.479C>T (p.Ser160Leu)	GALK1 (S160L)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GUncertain significance
Select item 558402	NM_000154.2(GALK1):c.410dup (p.Gly138fs)	GALK1 (G138fs)	Duplication (frameshift variant)	Deficiency of galactokinase	GPathogenic/Likely pathogenic
Select item 552633	NM_000154.2(GALK1):c.410del (p.Gly137fs)	GALK1 (G137fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550145	NM_000154.2(GALK1):c.409G>C (p.Gly137Arg)	GALK1 (G137R)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GUncertain significance
Select item 553609	NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)	GALK1 (R68C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 555981	NM_000154.2(GALK1):c.130C>T (p.His44Tyr)	GALK1 (H44Y)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GConflicting classifications of pathogenicity
Select item 556951	NM_000154.2(GALK1):c.116A>G (p.Asn39Ser)	GALK1 (N39S)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GUncertain significance
Select item 551180	NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)	GALK1 (P35fs)	Microsatellite (frameshift variant)	Deficiency of galactokinase	GPathogenic/Likely pathogenic
Select item 5628	NM_000154.2(GALK1):c.94G>A (p.Val32Met)	GALK1 (V32M)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GConflicting classifications of pathogenicity
Select item 5630	NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	GALK1 (P28T)	Single nucleotide variant (missense variant)	Deficiency of galactokinase +1 more	GPathogenic
Select item 555568	NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)	GALK1 (E27*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 556182	NM_000154.2(GALK1):c.1A>C (p.Met1Leu)	GALK1 (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of galactokinase	GLikely pathogenic
Select item 553861	NM_000154.2(GALK1):c.-33_-20dup	GALK1	Duplication (5 prime UTR variant)	Deficiency of galactokinase	GUncertain significance

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Items: 35