9060[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 1253682	NC_000010.11:g.87659386G>C	PAPSS2	Single nucleotide variant	not provided	GBenign
Select item 1282249	NC_000010.11:g.87659483T>C	PAPSS2	Single nucleotide variant	not provided	GBenign
Select item 1326444	NM_001015880.2(PAPSS2):c.-98TGC[12]	PAPSS2	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1274995	NM_001015880.2(PAPSS2):c.-98TGC[11]	PAPSS2	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1274645	NM_001015880.2(PAPSS2):c.-98TGC[9]	PAPSS2	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1279508	NM_001015880.2(PAPSS2):c.-68C>T	PAPSS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1015691	NM_001015880.2(PAPSS2):c.27+6C>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1624732	NM_001015880.2(PAPSS2):c.27+14C>A	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1617487	NM_001015880.2(PAPSS2):c.27+16C>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1600421	NM_001015880.2(PAPSS2):c.27+18G>A	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 1233069	NM_001015880.2(PAPSS2):c.27+108C>G	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244163	NM_001015880.2(PAPSS2):c.27+145A>G	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239633	NM_001015880.2(PAPSS2):c.27+206C>T	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220957	NM_001015880.2(PAPSS2):c.27+292C>T	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3012764	NM_001015880.2(PAPSS2):c.28G>T (p.Glu10Ter)	PAPSS2 (E10*)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 288334	NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys)	PAPSS2 (E10K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 288231	NM_001015880.2(PAPSS2):c.31A>C (p.Asn11His)	PAPSS2 (N11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998630	NM_001015880.2(PAPSS2):c.35A>G (p.Gln12Arg)	PAPSS2 (Q12R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1950229	NM_001015880.2(PAPSS2):c.37C>G (p.Gln13Glu)	PAPSS2 (Q13E)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2051085	NM_001015880.2(PAPSS2):c.49A>G (p.Asn17Asp)	PAPSS2 (N17D)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2295580	NM_001015880.2(PAPSS2):c.59A>G (p.Tyr20Cys)	PAPSS2 (Y20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2149336	NM_001015880.2(PAPSS2):c.60T>C (p.Tyr20=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1007271	NM_001015880.2(PAPSS2):c.65C>T (p.Ala22Val)	PAPSS2 (A22V)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 932064	NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter)	PAPSS2 (R41*)	Single nucleotide variant (nonsense)	PAPSS2-related disorder +1 more	GPathogenic
Select item 6687	NM_001015880.2(PAPSS2):c.143C>G (p.Thr48Arg)	PAPSS2 (T48R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 2048138	NM_001015880.2(PAPSS2):c.145+14AT[11]	PAPSS2	Microsatellite (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1590770	NM_001015880.2(PAPSS2):c.145+14AT[10]	PAPSS2	Microsatellite (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 1599026	NM_001015880.2(PAPSS2):c.145+14AT[8]	PAPSS2	Microsatellite (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 1164974	NM_001015880.2(PAPSS2):c.145+14AT[7]	PAPSS2	Microsatellite (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more	GBenign
Select item 1164973	NM_001015880.2(PAPSS2):c.145+14AT[6]	PAPSS2	Microsatellite (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 1245633	NM_001015880.2(PAPSS2):c.145+241T>C	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268612	NM_001015880.2(PAPSS2):c.146-97dup	PAPSS2	Duplication (intron variant)	not provided	GBenign
Select item 1232393	NM_001015880.2(PAPSS2):c.146-97del	PAPSS2	Deletion (intron variant)	not provided	GBenign
Select item 1651159	NM_001015880.2(PAPSS2):c.146-15A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1437893	NM_001015880.2(PAPSS2):c.193T>C (p.Tyr65His)	PAPSS2 (Y65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1061462	NM_001015880.2(PAPSS2):c.194A>G (p.Tyr65Cys)	PAPSS2 (Y65C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 196297	NM_001015880.2(PAPSS2):c.202T>C (p.Ser68Pro)	PAPSS2 (S68P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 505568	NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter)	PAPSS2 (Y74*)	Single nucleotide variant (nonsense)	PAPSS2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3304289	NM_001015880.2(PAPSS2):c.265C>G (p.Leu89Val)	PAPSS2 (L89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779934	NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign/Likely benign
Select item 3304290	NM_001015880.2(PAPSS2):c.275C>A (p.Ser92Tyr)	PAPSS2 (S92Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 537718	NM_001015880.2(PAPSS2):c.276T>C (p.Ser92=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 1413018	NM_001015880.2(PAPSS2):c.278C>G (p.Pro93Arg)	PAPSS2 (P93R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1028942	NM_001015880.2(PAPSS2):c.301C>T (p.Arg101Cys)	PAPSS2 (R101C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1498688	NM_001015880.2(PAPSS2):c.336T>A (p.Asp112Glu)	PAPSS2 (D112E)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 39642	NM_001015880.2(PAPSS2):c.337dup (p.Ala113fs)	PAPSS2 (A113fs)	Duplication (frameshift variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 1024635	NM_001015880.2(PAPSS2):c.341G>C (p.Gly114Ala)	PAPSS2 (G114A)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more	GUncertain significance
Select item 283365	NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=)	PAPSS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2640660	NM_001015880.2(PAPSS2):c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	Insertion (intron variant)	not provided	GLikely benign
Select item 1638397	NM_001015880.2(PAPSS2):c.381+14_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1636717	NM_001015880.2(PAPSS2):c.381+13_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1636427	NM_001015880.2(PAPSS2):c.381+7_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1593278	NM_001015880.2(PAPSS2):c.381+12_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1584889	NM_001015880.2(PAPSS2):c.381+3_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1578057	NM_001015880.2(PAPSS2):c.381+10_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1206298	NM_001015880.2(PAPSS2):c.381+20_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 1206212	NM_001015880.2(PAPSS2):c.381+22_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1206153	NM_001015880.2(PAPSS2):c.381+24dup	PAPSS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1152246	NM_001015880.2(PAPSS2):c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	Insertion (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1148509	NM_001015880.2(PAPSS2):c.381+23_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1102042	NM_001015880.2(PAPSS2):c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	Insertion (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1093035	NM_001015880.2(PAPSS2):c.381+5_381+24dup	PAPSS2	Duplication (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 781790	NM_001015880.2(PAPSS2):c.381+4_381+24dup	PAPSS2	Duplication (intron variant)	not provided	GBenign
Select item 218483	NM_001015880.2(PAPSS2):c.381+21_381+24dup	PAPSS2	Duplication (intron variant)	not specified	GBenign
Select item 1416724	NM_001015880.2(PAPSS2):c.381+3A>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1362926	NM_001015880.2(PAPSS2):c.381+3A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1328257	NM_001015880.2(PAPSS2):c.381+21_381+24del	PAPSS2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1206158	NM_001015880.2(PAPSS2):c.381+23_381+24del	PAPSS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1169154	NM_001015880.2(PAPSS2):c.381+24del	PAPSS2	Deletion (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 770966	NM_001015880.2(PAPSS2):c.381+20_381+24del	PAPSS2	Deletion (intron variant)	not provided	GBenign
Select item 1296446	NM_001015880.2(PAPSS2):c.381+81G>A	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289697	NM_001015880.2(PAPSS2):c.382-324A>G	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286360	NM_001015880.2(PAPSS2):c.382-41G>A	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2810412	NM_001015880.2(PAPSS2):c.382-12A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2913750	NM_001015880.2(PAPSS2):c.382-8C>A	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1686003	NM_001015880.2(PAPSS2):c.386G>A (p.Arg129His)	PAPSS2 (R129H)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 2063684	NM_001015880.2(PAPSS2):c.397C>T (p.Arg133Cys)	PAPSS2 (R133C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2888071	NM_001015880.2(PAPSS2):c.398G>T (p.Arg133Leu)	PAPSS2 (R133L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more	GUncertain significance
Select item 3304292	NM_001015880.2(PAPSS2):c.405A>G (p.Ile135Met)	PAPSS2 (I135M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1897927	NM_001015880.2(PAPSS2):c.409G>A (p.Glu137Lys)	PAPSS2 (E137K)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1714759	NM_001015880.2(PAPSS2):c.416C>T (p.Ala139Val)	PAPSS2 (A139V)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2766015	NM_001015880.2(PAPSS2):c.429_431del (p.Phe144del)	PAPSS2 (F144del)	Deletion (inframe_deletion)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1348930	NM_001015880.2(PAPSS2):c.440T>C (p.Phe147Ser)	PAPSS2 (F147S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2066459	NM_001015880.2(PAPSS2):c.451C>T (p.Pro151Ser)	PAPSS2 (P151S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 39645	NM_001015880.2(PAPSS2):c.477_480dup (p.Lys161fs)	PAPSS2 (K161fs)	Duplication (frameshift variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 782953	NM_001015880.2(PAPSS2):c.477C>T (p.Asp159=)	PAPSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2118413	NM_001015880.2(PAPSS2):c.520+1G>A	PAPSS2	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely pathogenic
Select item 1663125	NM_001015880.2(PAPSS2):c.520+10T>C	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1284035	NM_001015880.2(PAPSS2):c.520+21C>A	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288749	NM_001015880.2(PAPSS2):c.520+133C>T	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271893	NM_001015880.2(PAPSS2):c.521-214A>G	PAPSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2853317	NM_001015880.2(PAPSS2):c.521-13A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 1384011	NM_001015880.2(PAPSS2):c.527C>T (p.Thr176Ile)	PAPSS2 (T176I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 1389036	NM_001015880.2(PAPSS2):c.532A>C (p.Ile178Leu)	PAPSS2 (I178L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 578450	NM_001015880.2(PAPSS2):c.547G>A (p.Glu183Lys)	PAPSS2 (E183K)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2012430	NM_001015880.2(PAPSS2):c.552A>G (p.Lys184=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign

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