Related gene-specific medical variations for Gene (Select 55556) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2648513	NM_001071.4(TYMS):c.690C>T (p.Tyr230=)	ENOSF1, TYMS	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2548497	NM_001071.4(TYMS):c.710T>C (p.Ile237Thr)	ENOSF1, TYMS (I154T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2350980	NM_001071.4(TYMS):c.554G>A (p.Arg185Lys)	ENOSF1, TYMS (R185K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1693540	NM_001071.4(TYMS):c.811C>T (p.Arg271Ter)	ENOSF1, TYMS (R188* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Dyskeratosis congenita	GPathogenic
Select item 1693539	NM_001071.4(TYMS):c.556+1G>A	ENOSF1, TYMS	Single nucleotide variant (splice donor variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693538	NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter)	ENOSF1, TYMS (M179* +1 more)	Insertion (nonsense +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693537	NM_001071.4(TYMS):c.486_487del (p.Arg163fs)	ENOSF1, TYMS (R163fs +1 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 1693536	NM_001071.4(TYMS):c.480A>T (p.Gln160His)	ENOSF1, TYMS (Q160H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1234187	NM_017512.7(ENOSF1):c.*1219T>C	ENOSF1, TYMS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 718816	NM_001071.4(TYMS):c.786C>T (p.Ile262=)	ENOSF1, TYMS	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign