5800[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 1707139	NC_000012.12:g.15322059AC[5]	PTPRO	Microsatellite	not provided	GLikely benign
Select item 1269902	NC_000012.12:g.15322293G>A	PTPRO	Single nucleotide variant	not provided	GBenign
Select item 3380095	NM_030667.3(PTPRO):c.5G>A (p.Gly2Glu)	PTPRO (G2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307477	NM_030667.3(PTPRO):c.22A>C (p.Ile8Leu)	PTPRO (I8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2128433	NM_030667.3(PTPRO):c.23T>C (p.Ile8Thr)	PTPRO (I8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477464	NM_030667.3(PTPRO):c.31G>A (p.Ala11Thr)	PTPRO (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1614800	NM_030667.3(PTPRO):c.31G>T (p.Ala11Ser)	PTPRO (A11S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2258632	NM_030667.3(PTPRO):c.47C>G (p.Pro16Arg)	PTPRO (P16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2170933	NM_030667.3(PTPRO):c.60C>G (p.Leu20=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922063	NM_030667.3(PTPRO):c.73A>G (p.Lys25Glu)	PTPRO (K25E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185616	NM_030667.3(PTPRO):c.75+9G>C	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630196	NM_030667.3(PTPRO):c.76-67403G>A	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related disorder	GUncertain significance
Select item 2665081	GRCh38/hg38 12p12.3(chr12:15466904-15470698)	PTPRO	Copy number gain	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more	GUncertain significance
Select item 1315836	NM_030667.3(PTPRO):c.76-109A>G	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020426	NM_030667.3(PTPRO):c.76-16C>G	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2621437	NM_030667.3(PTPRO):c.89T>C (p.Phe30Ser)	PTPRO (F30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234355	NM_030667.3(PTPRO):c.108T>C (p.Asp36=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2308972	NM_030667.3(PTPRO):c.109G>A (p.Asp37Asn)	PTPRO (D37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2068334	NM_030667.3(PTPRO):c.111TAA[1] (p.Asn39del)	PTPRO (N39del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1956944	NM_030667.3(PTPRO):c.120C>T (p.Ile40=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036572	NM_030667.3(PTPRO):c.255G>A (p.Lys85=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 2415134	NM_030667.3(PTPRO):c.336C>T (p.Ile112=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183685	NM_030667.3(PTPRO):c.349+155C>T	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235789	NM_030667.3(PTPRO):c.349+211C>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262483	NM_030667.3(PTPRO):c.349+219T>G	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174249	NM_030667.3(PTPRO):c.350-280T>C	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908515	NM_030667.3(PTPRO):c.350-14_350-9del	PTPRO	Deletion (intron variant)	not provided	GLikely benign
Select item 1516890	NM_030667.3(PTPRO):c.497T>C (p.Met166Thr)	PTPRO (M166T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1316651	NM_030667.3(PTPRO):c.508+19G>A	PTPRO	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 6 +1 more	GBenign/Likely benign
Select item 1175500	NM_030667.3(PTPRO):c.509-156A>G	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239607	NM_030667.3(PTPRO):c.509-46T>C	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2054698	NM_030667.3(PTPRO):c.550G>C (p.Gly184Arg)	PTPRO (G184R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052680	NM_030667.3(PTPRO):c.561T>C (p.Tyr187=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149562	NM_030667.3(PTPRO):c.562A>G (p.Ser188Gly)	PTPRO (S188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1554129	NM_030667.3(PTPRO):c.612C>T (p.Thr204=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2085274	NM_030667.3(PTPRO):c.639C>T (p.His213=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3311641	NM_030667.3(PTPRO):c.640G>A (p.Glu214Lys)	PTPRO (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2996941	NM_030667.3(PTPRO):c.661+7C>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620655	NM_030667.3(PTPRO):c.661+9C>T	PTPRO	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1245257	NM_030667.3(PTPRO):c.661+123T>C	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282198	NM_030667.3(PTPRO):c.661+284T>C	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226652	NM_030667.3(PTPRO):c.662-165T>C	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032894	NM_030667.3(PTPRO):c.663C>A (p.Ala221=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 730226	NM_030667.3(PTPRO):c.663C>T (p.Ala221=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149563	NM_030667.3(PTPRO):c.667T>C (p.Tyr223His)	PTPRO (Y223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708124	NM_030667.3(PTPRO):c.682A>G (p.Ile228Val)	PTPRO (I228V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2169865	NM_030667.3(PTPRO):c.689T>C (p.Val230Ala)	PTPRO (V230A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623404	NM_030667.3(PTPRO):c.697G>A (p.Val233Ile)	PTPRO (V233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2955243	NM_030667.3(PTPRO):c.708C>T (p.Asn236=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642760	NM_030667.3(PTPRO):c.712A>T (p.Asn238Tyr)	PTPRO (N238Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1896763	NM_030667.3(PTPRO):c.751T>A (p.Ser251Thr)	PTPRO (S251T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868746	NM_030667.3(PTPRO):c.756C>T (p.Phe252=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165420	NM_030667.3(PTPRO):c.822T>A (p.Ile274=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054661	NM_030667.3(PTPRO):c.843C>T (p.Ser281=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513392	NM_030667.3(PTPRO):c.844G>A (p.Gly282Ser)	PTPRO (G282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312748	NM_030667.3(PTPRO):c.856T>C (p.Phe286Leu)	PTPRO (F286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367207	NM_030667.3(PTPRO):c.882G>A (p.Thr294=)	PTPRO	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 1991455	NM_030667.3(PTPRO):c.901G>C (p.Asp301His)	PTPRO (D301H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3058058	NM_030667.3(PTPRO):c.945C>T (p.Ser315=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 2040872	NM_030667.3(PTPRO):c.946G>A (p.Val316Ile)	PTPRO (V316I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591052	NM_030667.3(PTPRO):c.948_951dup (p.Pro318fs)	PTPRO (P318fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2345221	NM_030667.3(PTPRO):c.953C>T (p.Pro318Leu)	PTPRO (P318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315882	NM_030667.3(PTPRO):c.956T>C (p.Met319Thr)	PTPRO (M319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1505962	NM_030667.3(PTPRO):c.998C>T (p.Ser333Leu)	PTPRO (S333L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517987	NM_030667.3(PTPRO):c.1085A>G (p.His362Arg)	PTPRO (H362R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047187	NM_030667.3(PTPRO):c.1093A>T (p.Ile365Phe)	PTPRO (I365F)	Single nucleotide variant (missense variant)	PTPRO-related disorder	GUncertain significance
Select item 2721159	NM_030667.3(PTPRO):c.1099C>A (p.Arg367=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486177	NM_030667.3(PTPRO):c.1100G>A (p.Arg367Gln)	PTPRO (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1329719	NM_030667.3(PTPRO):c.1105+29A>T	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258322	NM_030667.3(PTPRO):c.1105+160T>G	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981947	NM_030667.3(PTPRO):c.1106-10T>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2996942	NM_030667.3(PTPRO):c.1106-7G>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315691	NM_030667.3(PTPRO):c.1110C>G (p.Asn370Lys)	PTPRO (N370K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2769557	NM_030667.3(PTPRO):c.1125G>A (p.Leu375=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069401	NM_030667.3(PTPRO):c.1128G>A (p.Met376Ile)	PTPRO (M376I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2885429	NM_030667.3(PTPRO):c.1131G>A (p.Val377=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031660	NM_030667.3(PTPRO):c.1158A>C (p.Ala386=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 3311640	NM_030667.3(PTPRO):c.1216T>C (p.Ser406Pro)	PTPRO (S406P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211109	NM_030667.3(PTPRO):c.1222G>C (p.Glu408Gln)	PTPRO (E408Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2110028	NM_030667.3(PTPRO):c.1241C>G (p.Ser414Ter)	PTPRO (S414*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2044986	NM_030667.3(PTPRO):c.1255A>G (p.Ser419Gly)	PTPRO (S419G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321266	NM_030667.3(PTPRO):c.1262A>G (p.Tyr421Cys)	PTPRO (Y421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267743	NM_030667.3(PTPRO):c.1268-281A>T	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269172	NM_030667.3(PTPRO):c.1268-263A>G	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224025	NM_030667.3(PTPRO):c.1268-231G>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268385	NM_030667.3(PTPRO):c.1268-64A>G	PTPRO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1955965	NM_030667.3(PTPRO):c.1289A>C (p.Glu430Ala)	PTPRO (E430A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032280	NM_030667.3(PTPRO):c.1308G>A (p.Pro436=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related disorder	GLikely benign
Select item 2959395	NM_030667.3(PTPRO):c.1314C>T (p.His438=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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