Related gene-specific medical variations for Gene (Select 102465248) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033155	NM_138927.4(SON):c.1493C>A (p.Thr498Lys)	MIR6501, SON (T498K)	Single nucleotide variant (non-coding transcript variant +2 more)	SON-related condition	GUncertain significance
Select item 2997338	NM_138927.4(SON):c.1457C>T (p.Thr486Ile)	MIR6501, SON (T486I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2903004	NM_138927.4(SON):c.1495G>C (p.Val499Leu)	MIR6501, SON (V499L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2783712	NM_138927.4(SON):c.1447C>T (p.Pro483Ser)	MIR6501, SON (P483S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2182126	NM_138927.4(SON):c.1488G>A (p.Ala496=)	MIR6501, SON	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2174408	NM_138927.4(SON):c.1465G>T (p.Val489Leu)	MIR6501, SON (V489L)	Single nucleotide variant (non-coding transcript variant +2 more)	SON-related condition +1 more	GLikely benign
Select item 1931852	NM_138927.4(SON):c.1465G>A (p.Val489Ile)	MIR6501, SON (V489I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1698096	NM_138927.4(SON):c.1453G>A (p.Val485Met)	MIR6501, SON (V485M)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1634257	NM_138927.4(SON):c.1487C>T (p.Ala496Val)	MIR6501, SON (A496V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1615831	NM_138927.4(SON):c.1437G>A (p.Leu479=)	MIR6501, SON	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1308100	NM_138927.4(SON):c.1487C>A (p.Ala496Glu)	MIR6501, SON (A496E)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1055619	NM_138927.4(SON):c.1452G>T (p.Leu484Phe)	MIR6501, SON (L484F)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 504062	NM_138927.4(SON):c.1487del (p.Ala496fs)	MIR6501, SON (A496fs)	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic