374462[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 154657	GRCh38/hg38 12q21.31(chr12:80195590-80500002)x1	OTOGL, PTPRQ	Copy number loss	See cases	GUncertain significance
Select item 57587	GRCh38/hg38 12q21.31(chr12:80393097-81021534)x1	LIN7A, LINC01490 +11 more	Copy number loss	See cases	GPathogenic
Select item 1174628	NC_000012.12:g.80425096A>G	PTPRQ	Single nucleotide variant	not specified	GBenign
Select item 2570840	NC_000012.12:g.80436384T>C	PTPRQ	Single nucleotide variant	not provided	GLikely benign
Select item 1227302	NC_000012.12:g.80444099G>C	PTPRQ	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1278282	NC_000012.12:g.80444130_80444131insA	PTPRQ	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 1212235	NC_000012.12:g.80444133_80444134insA	PTPRQ	Insertion (genic upstream transcript variant)	not provided	GLikely benign
Select item 1246491	NC_000012.12:g.80444134T>A	PTPRQ	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1208782	NC_000012.12:g.80444137T>A	PTPRQ	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1276682	NC_000012.12:g.80444138T>A	PTPRQ	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1204969	NC_000012.12:g.80444141T>A	PTPRQ	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1296901	NC_000012.12:g.80444232T>C	PTPRQ	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 806914	NM_001145026.2(PTPRQ):c.-1G>A	PTPRQ	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 982616	NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile)	PTPRQ (M1I)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 73	GLikely pathogenic
Select item 515586	NM_001145026.2(PTPRQ):c.39G>C (p.Gly13=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 508618	NM_001145026.2(PTPRQ):c.50C>T (p.Thr17Ile)	PTPRQ (T17I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2672512	NM_001145026.2(PTPRQ):c.51A>C (p.Thr17=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1200832	NM_001145026.2(PTPRQ):c.54+7C>T	PTPRQ	Single nucleotide variant (intron variant)	PTPRQ-related condition +1 more	GLikely benign
Select item 680330	NM_001145026.2(PTPRQ):c.54+8G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1280519	NM_001145026.2(PTPRQ):c.55-163_55-162insGATAT	PTPRQ	Microsatellite (intron variant)	not provided	GBenign
Select item 2392902	NM_001145026.2(PTPRQ):c.73G>A (p.Val25Ile)	PTPRQ (V25I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2242953	NM_001145026.2(PTPRQ):c.79G>C (p.Gly27Arg)	PTPRQ (G27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048345	NM_001145026.2(PTPRQ):c.90C>T (p.Tyr30=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related condition	GLikely benign
Select item 508621	NM_001145026.2(PTPRQ):c.98C>T (p.Thr33Ile)	PTPRQ (T33I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1878739	NM_001145026.2(PTPRQ):c.101T>G (p.Ile34Ser)	PTPRQ (I34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2337721	NM_001145026.2(PTPRQ):c.125C>T (p.Thr42Ile)	PTPRQ (T42I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411875	NM_001145026.2(PTPRQ):c.143T>C (p.Ile48Thr)	PTPRQ (I48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 669399	NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del)	PTPRQ	Deletion (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 1050335	NM_001145026.2(PTPRQ):c.156T>G (p.Asn52Lys)	PTPRQ (N52K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432088	NM_001145026.2(PTPRQ):c.163+5G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1198454	NM_001145026.2(PTPRQ):c.163+87T>C	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245218	NM_001145026.2(PTPRQ):c.163+161A>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231649	NM_001145026.2(PTPRQ):c.163+256A>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201445	NM_001145026.2(PTPRQ):c.163+257C>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1677384	NM_001145026.2(PTPRQ):c.164-157T>C	PTPRQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1212521	NM_001145026.2(PTPRQ):c.164-140T>C	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283148	NM_001145026.2(PTPRQ):c.164-51A>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2571691	NM_001145026.2(PTPRQ):c.172C>A (p.Pro58Thr)	PTPRQ (P58T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681345	NM_001145026.2(PTPRQ):c.189C>T (p.Ala63=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1212275	NM_001145026.2(PTPRQ):c.201C>T (p.Val67=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218516	NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg)	PTPRQ (G68R)	Single nucleotide variant (missense variant)	PTPRQ-related condition +2 more	GBenign/Likely benign
Select item 1179744	NM_001145026.2(PTPRQ):c.206C>G (p.Ser69Cys)	PTPRQ (S69C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2226955	NM_001145026.2(PTPRQ):c.242A>T (p.Asn81Ile)	PTPRQ (N81I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 513077	NM_001145026.2(PTPRQ):c.255G>A (p.Arg85=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 682147	NM_001145026.2(PTPRQ):c.286G>A (p.Val96Ile)	PTPRQ (V96I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1314594	NM_001145026.2(PTPRQ):c.293C>T (p.Pro98Leu)	PTPRQ (P98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548548	NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser)	PTPRQ (I129S)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73	GUncertain significance
Select item 2643192	NM_001145026.2(PTPRQ):c.390+18G>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260162	NM_001145026.2(PTPRQ):c.390+328C>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3026183	NM_001145026.2(PTPRQ):c.391-3102T>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1274022	NM_001145026.2(PTPRQ):c.391-822A>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282163	NM_001145026.2(PTPRQ):c.391-663A>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233583	NM_001145026.2(PTPRQ):c.391-323T>C	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243212	NM_001145026.2(PTPRQ):c.391-156G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284255	NM_001145026.2(PTPRQ):c.460+29G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262825	NM_001145026.2(PTPRQ):c.510A>T (p.Ala170=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1313249	NM_001145026.2(PTPRQ):c.523del (p.Trp175fs)	PTPRQ (W175fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2573459	NM_001145026.2(PTPRQ):c.563T>C (p.Phe188Ser)	PTPRQ (F188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056886	NM_001145026.2(PTPRQ):c.713G>A (p.Gly238Asp)	PTPRQ (G238D)	Single nucleotide variant (missense variant)	PTPRQ-related condition	GBenign
Select item 156332	NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly)	PTPRQ (R239G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 156333	NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter)	PTPRQ (Y279*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 1268508	NM_001145026.2(PTPRQ):c.857C>T (p.Ala286Val)	PTPRQ (A286V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1256664	NM_001145026.2(PTPRQ):c.911-250G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194723	NM_001145026.2(PTPRQ):c.911-130A>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271224	NM_001145026.2(PTPRQ):c.911-25T>C	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671633	NM_001145026.2(PTPRQ):c.911-20A>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693030	NM_001145026.2(PTPRQ):c.922C>A (p.Pro308Thr)	PTPRQ (P308T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254579	NM_001145026.2(PTPRQ):c.937G>A (p.Val313Ile)	PTPRQ (V313I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499224	NM_001145026.2(PTPRQ):c.944G>A (p.Gly315Asp)	PTPRQ (G315D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065031	NM_001145026.2(PTPRQ):c.1015A>G (p.Arg339Gly)	PTPRQ (R339G)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 2572797	NM_001145026.2(PTPRQ):c.1034C>G (p.Pro345Arg)	PTPRQ (P345R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296866	NM_001145026.2(PTPRQ):c.1039+105C>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288681	NM_001145026.2(PTPRQ):c.1039+245T>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277359	NM_001145026.2(PTPRQ):c.1040-318C>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242756	NM_001145026.2(PTPRQ):c.1040-299T>C	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222750	NM_001145026.2(PTPRQ):c.1040-139A>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219383	NM_001145026.2(PTPRQ):c.1040-44C>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1049957	NM_001145026.2(PTPRQ):c.1042C>T (p.Arg348Cys)	PTPRQ (R348C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032304	NM_001145026.2(PTPRQ):c.1098A>G (p.Pro366=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related condition	GLikely benign
Select item 805255	NM_001145026.2(PTPRQ):c.1104A>G (p.Thr368=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1305831	NM_001145026.2(PTPRQ):c.1125G>A (p.Ala375=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1064973	NM_001145026.2(PTPRQ):c.1133C>A (p.Thr378Asn)	PTPRQ (T378N)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1274447	NM_001145026.2(PTPRQ):c.1145C>G (p.Thr382Ser)	PTPRQ (T382S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1179404	NM_001145026.2(PTPRQ):c.1186+18del	PTPRQ	Deletion (intron variant)	not provided	GLikely benign
Select item 1249050	NM_001145026.2(PTPRQ):c.1187-262T>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270046	NM_001145026.2(PTPRQ):c.1187-245G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245499	NM_001145026.2(PTPRQ):c.1187-158G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228960	NM_001145026.2(PTPRQ):c.1187-69G>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277989	NM_001145026.2(PTPRQ):c.1187-38T>A	PTPRQ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1289654	NM_001145026.2(PTPRQ):c.1187-27dup	PTPRQ	Duplication (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A +2 more	GBenign
Select item 513671	NM_001145026.2(PTPRQ):c.1187-24TTTC[6]	PTPRQ	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1201472	NM_001145026.2(PTPRQ):c.1187-24TTTC[4]	PTPRQ	Microsatellite (intron variant)	not provided	GLikely benign
Select item 678764	NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=)	PTPRQ	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal dominant 73 +2 more	GBenign/Likely benign
Select item 1313438	NM_001145026.2(PTPRQ):c.1247C>G (p.Thr416Ser)	PTPRQ (T416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514105	NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu)	PTPRQ (Q429E)	Single nucleotide variant (missense variant)	not provided	GBenign

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