Related gene-specific medical variations for Gene (Select 128637) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174544	NM_144628.4(TBC1D20):c.66G>C (p.Lys22Asn)	LOC130065265, TBC1D20 (K22N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174540	NM_144628.4(TBC1D20):c.38C>T (p.Ser13Phe)	LOC130065265, TBC1D20 (S13F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262121	NM_144628.4(TBC1D20):c.65A>G (p.Lys22Arg)	LOC130065265, TBC1D20 (K22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1941956	NM_144628.4(TBC1D20):c.62A>G (p.Glu21Gly)	LOC130065265, TBC1D20 (E21G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1904220	NM_144628.4(TBC1D20):c.59C>T (p.Ala20Val)	LOC130065265, TBC1D20 (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902203	NM_144628.4(TBC1D20):c.70+17G>C	LOC130065265, TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901213	NM_144628.4(TBC1D20):c.70+9G>A	LOC130065265, TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602742	NM_144628.4(TBC1D20):c.6C>G (p.Ala2=)	LOC130065265, TBC1D20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1255129	NM_144628.4(TBC1D20):c.-83T>C	LOC130065265, TBC1D20	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249801	NM_144628.4(TBC1D20):c.70+43G>C	LOC130065265, TBC1D20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242134	NM_144628.4(TBC1D20):c.70+130AG[3]	LOC130065265, TBC1D20	Microsatellite (intron variant)	not provided	GBenign
Select item 1219869	NM_144628.4(TBC1D20):c.67G>T (p.Ala23Ser)	LOC130065265, TBC1D20 (A23S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1187703	NM_144628.4(TBC1D20):c.70+61A>C	LOC130065265, TBC1D20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183181	NM_144628.4(TBC1D20):c.70+137C>G	TBC1D20, LOC130065265	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489376	NM_144628.4(TBC1D20):c.-34C>T	LOC130065265, TBC1D20	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 389325	NM_144628.4(TBC1D20):c.70+15C>T	LOC130065265, TBC1D20	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 383425	NM_144628.4(TBC1D20):c.-50C>T	LOC130065265, TBC1D20	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign