C0268155[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726052	NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs)	GALK1 (V270fs)	Indel (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 983814	NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)	GALK1 (E262*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 983815	NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)	GALK1 (Q259*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 889784	NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)	GALK1 (R248W)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GUncertain significance
Select item 1725470	NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs)	GALK1 (A247fs)	Insertion (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 1726303	NM_000154.2(GALK1):c.573del (p.Met192fs)	GALK1 (M192fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 1724783	NM_000154.2(GALK1):c.520G>T (p.Glu174Ter)	GALK1 (E174*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 983816	NM_000154.2(GALK1):c.479C>A (p.Ser160Ter)	GALK1 (S160*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 1724866	NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs)	GALK1 (S142fs)	Indel (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 1725020	NM_000154.2(GALK1):c.403del (p.Leu135fs)	GALK1 (L135fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 1724472	NM_000154.2(GALK1):c.350del (p.Tyr117fs)	GALK1 (Y117fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 1726847	NM_000154.2(GALK1):c.331A>T (p.Lys111Ter)	GALK1 (K111*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 983817	NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)	GALK1 (W106*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 863469	NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)	GALK1 (E100*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GPathogenic/Likely pathogenic
Select item 1725988	NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)	GALK1 (Q96*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GPathogenic/Likely pathogenic
Select item 983981	NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)	GALK1 (E84*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic
Select item 1726912	NM_000154.2(GALK1):c.205A>T (p.Lys69Ter)	GALK1 (K69*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GLikely pathogenic