Related gene-specific medical variations for Gene (Select 202018) - ClinVar

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

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173826	NM_153365.3(TAPT1):c.86C>G (p.Ala29Gly)	LOC129992296, TAPT1 (A29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173823	NM_153365.3(TAPT1):c.100G>A (p.Gly34Ser)	LOC129992296, TAPT1 (G34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068159	NM_153365.3(TAPT1):c.1673G>A (p.Arg558Lys)	TAPT1 (R558K)	Single nucleotide variant (missense variant)	Complex lethal osteochondrodysplasia	GUncertain significance
Select item 3001162	NM_153365.3(TAPT1):c.135G>A (p.Gln45=)	LOC129992296, TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980668	NM_153365.3(TAPT1):c.199+8G>A	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2569555	NM_153365.3(TAPT1):c.64C>G (p.Gln22Glu)	LOC129992296, TAPT1 (Q22E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534661	NM_153365.3(TAPT1):c.137T>A (p.Leu46His)	LOC129992296, TAPT1 (L46H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534659	NM_153365.3(TAPT1):c.114G>C (p.Gln38His)	LOC129992296, TAPT1 (Q38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388738	NM_153365.3(TAPT1):c.121C>T (p.Pro41Ser)	LOC129992296, TAPT1 (P41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298148	NM_153365.3(TAPT1):c.154T>C (p.Phe52Leu)	LOC129992296, TAPT1 (F52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2022623	NM_153365.3(TAPT1):c.122C>T (p.Pro41Leu)	LOC129992296, TAPT1 (P41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991752	NM_153365.3(TAPT1):c.70G>A (p.Asp24Asn)	LOC129992296, TAPT1 (D24N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987798	NM_153365.3(TAPT1):c.73G>A (p.Gly25Ser)	LOC129992296, TAPT1 (G25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935198	NM_153365.3(TAPT1):c.120C>T (p.Pro40=)	LOC129992296, TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928094	NM_153365.3(TAPT1):c.170G>T (p.Arg57Leu)	LOC129992296, TAPT1 (R57L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1909828	NM_153365.3(TAPT1):c.123G>A (p.Pro41=)	LOC129992296, TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721896	NM_153365.3(TAPT1):c.72C>A (p.Asp24Glu)	LOC129992296, TAPT1 (D24E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707146	NC_000004.12:g.16226530GCCCC[3]	LOC129992297, TAPT1	Microsatellite (genic upstream transcript variant)	not provided	GLikely benign
Select item 1642268	NM_153365.3(TAPT1):c.199+10G>A	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640171	NM_153365.3(TAPT1):c.199+9G>A	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545762	NM_153365.3(TAPT1):c.114G>A (p.Gln38=)	LOC129992296, TAPT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508554	NM_153365.3(TAPT1):c.199+1G>A	LOC129992296, TAPT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1491592	NM_153365.3(TAPT1):c.77G>A (p.Arg26His)	LOC129992296, TAPT1 (R26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483431	NM_153365.3(TAPT1):c.182G>C (p.Arg61Thr)	LOC129992296, TAPT1 (R61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479716	NM_153365.3(TAPT1):c.165C>G (p.Ser55Arg)	LOC129992296, TAPT1 (S55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463828	NM_153365.3(TAPT1):c.72C>G (p.Asp24Glu)	LOC129992296, TAPT1 (D24E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1278862	NM_153365.3(TAPT1):c.199+59C>T	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264370	NC_000004.12:g.16226627G>A	LOC129992298, TAPT1	Single nucleotide variant	not provided	GBenign
Select item 1252499	NC_000004.12:g.16226554GCC[9]	LOC129992297, TAPT1	Microsatellite	not provided	GBenign
Select item 1252088	NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter)	TAPT1 (R386*)	Single nucleotide variant (nonsense)	Complex lethal osteochondrodysplasia	GLikely pathogenic
Select item 1236274	NM_153365.3(TAPT1):c.199+101T>C	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225651	NC_000004.12:g.16226554GCC[8]	LOC129992297, TAPT1	Microsatellite	not provided	GBenign
Select item 1212785	NM_153365.3(TAPT1):c.137T>G (p.Leu46Arg)	LOC129992296, TAPT1 (L46R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1189574	NM_153365.3(TAPT1):c.199+155_199+163del	LOC129992296, TAPT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186277	NC_000004.12:g.16226554GCC[5]	LOC129992297, TAPT1	Microsatellite	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 35