Related gene-specific medical variations for Gene (Select 79853) - ClinVar - NCBI

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

Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2730400	NM_024795.4(TM4SF20):c.228G>A (p.Ala76=)	LOC126806540, TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2665075	NM_024795.4(TM4SF20):c.510G>A (p.Trp170Ter)	TM4SF20 (W170*)	Single nucleotide variant (nonsense)	Specific language impairment 5	GUncertain significance
Select item 2129854	NM_024795.4(TM4SF20):c.249+4A>G	LOC126806540, TM4SF20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2077755	NM_024795.4(TM4SF20):c.225A>T (p.Arg75Ser)	LOC126806540, TM4SF20 (R75S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1926817	NM_024795.4(TM4SF20):c.233G>A (p.Cys78Tyr)	LOC126806540, TM4SF20 (C78Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701771	NM_024795.4(TM4SF20):c.271A>G (p.Ser91Gly)	TM4SF20 (S91G)	Single nucleotide variant (missense variant)	Specific language impairment 5	GUncertain significance
Select item 1636825	NM_024795.4(TM4SF20):c.249+18G>A	LOC126806540, TM4SF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568543	NM_024795.4(TM4SF20):c.201A>G (p.Thr67=)	LOC126806540, TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391332	NM_024795.4(TM4SF20):c.184-2A>T	LOC126806540, TM4SF20	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1167277	NM_024795.4(TM4SF20):c.249+13C>T	LOC126806540, TM4SF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 625778	GRCh37/hg19 2q36.3(chr2:228230759-228234864)	TM4SF20	Copy number loss	not provided	GPathogenic