Related gene-specific medical variations for Gene (Select 28989) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202562	NM_014064.4(NTMT1):c.653A>G (p.Tyr218Cys)	ASB6, NTMT1 (Y218C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202561	NM_014064.4(NTMT1):c.605T>G (p.Leu202Arg)	ASB6, NTMT1 (L114R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202560	NM_014064.4(NTMT1):c.565G>A (p.Val189Met)	ASB6, NTMT1 (V189M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2659572	NM_199350.4(C9orf50):c.198C>T (p.Asp66=)	C9orf50, NTMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659571	NM_199350.4(C9orf50):c.575A>G (p.Asn192Ser)	C9orf50, NTMT1 (N192S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2317276	NM_014064.4(NTMT1):c.647A>G (p.His216Arg)	ASB6, NTMT1 (H128R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2255776	NM_014064.4(NTMT1):c.575G>A (p.Arg192Lys)	ASB6, NTMT1 (R104K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2254930	NM_199350.4(C9orf50):c.926C>T (p.Ala309Val)	C9orf50, NTMT1 (A309V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2248805	NM_199350.4(C9orf50):c.380C>T (p.Pro127Leu)	C9orf50, NTMT1 (P127L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance