ClinVar for Gene (Select 374462) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 492

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381421	NM_001145026.2(PTPRQ):c.3654dup (p.Ala1219fs)	PTPRQ (A1219fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3378396	NM_001145026.2(PTPRQ):c.6602+81_6738+394delinsTTTATAAAATG	PTPRQ	Indel (splice acceptor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 3378395	NM_001145026.2(PTPRQ):c.4159del (p.Gln1387fs)	PTPRQ (Q1387fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 3378394	NM_001145026.2(PTPRQ):c.3873+727A>G	PTPRQ	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 3377523	NM_001145026.2(PTPRQ):c.6453+2dup	PTPRQ	Duplication (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 3377242	NM_001145026.2(PTPRQ):c.1540+5G>A	PTPRQ	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 3377236	NM_001145026.2(PTPRQ):c.228G>A (p.Trp76Ter)	PTPRQ (W76*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 3376818	NM_001145026.2(PTPRQ):c.3974A>T (p.Asn1325Ile)	PTPRQ (N1325I)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73	GUncertain significance
Select item 3376782	NM_001145026.2(PTPRQ):c.6325C>T (p.Arg2109Trp)	PTPRQ (R2109W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 3376628	NM_001145026.2(PTPRQ):c.5971C>T (p.His1991Tyr)	PTPRQ (H1991Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 3376557	NM_001145026.2(PTPRQ):c.731C>T (p.Ser244Leu)	PTPRQ (S244L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 3374715	NM_001145026.2(PTPRQ):c.4609+1G>A	PTPRQ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3373700	NM_001145026.2(PTPRQ):c.3226C>T (p.Pro1076Ser)	PTPRQ (P1076S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373299	NM_001145026.2(PTPRQ):c.4198A>C (p.Thr1400Pro)	PTPRQ (T1400P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372576	NM_001145026.2(PTPRQ):c.1550G>A (p.Arg517Lys)	PTPRQ (R517K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371253	NM_001145026.2(PTPRQ):c.2429C>A (p.Thr810Lys)	PTPRQ (T810K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371009	NM_001145026.2(PTPRQ):c.22C>G (p.Leu8Val)	PTPRQ (L8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369618	NM_001145026.2(PTPRQ):c.6208A>G (p.Asn2070Asp)	PTPRQ (N2070D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365980	NM_001145026.2(PTPRQ):c.1355A>G (p.Asn452Ser)	PTPRQ (N452S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364839	NM_001145026.2(PTPRQ):c.1742G>A (p.Ser581Asn)	PTPRQ (S581N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364613	NM_001145026.2(PTPRQ):c.6301C>A (p.Leu2101Ile)	PTPRQ (L2101I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363707	NM_001145026.2(PTPRQ):c.5775dup (p.Ala1926fs)	PTPRQ (A1926fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3363264	NM_001145026.2(PTPRQ):c.5034A>T (p.Gln1678His)	PTPRQ (Q1678H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361760	NM_001145026.2(PTPRQ):c.1232C>T (p.Thr411Met)	PTPRQ (T411M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360978	NM_001145026.2(PTPRQ):c.3048T>A (p.Asp1016Glu)	PTPRQ (D1016E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360827	NM_001145026.2(PTPRQ):c.1500T>A (p.Phe500Leu)	PTPRQ (F500L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358534	NM_001145026.2(PTPRQ):c.5113G>A (p.Val1705Ile)	PTPRQ (V1705I)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GLikely benign
Select item 3357956	NM_001145026.2(PTPRQ):c.4188del (p.Ala1398fs)	PTPRQ (A1398fs)	Deletion (frameshift variant)	PTPRQ-related disorder	GLikely pathogenic
Select item 3357783	NM_001145026.2(PTPRQ):c.3081G>T (p.Trp1027Cys)	PTPRQ (W1027C)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 3356931	NM_001145026.2(PTPRQ):c.4500A>G (p.Thr1500=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related disorder	GLikely benign
Select item 3355016	NM_001145026.2(PTPRQ):c.4960C>G (p.Pro1654Ala)	PTPRQ (P1654A)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 3352940	NM_001145026.2(PTPRQ):c.3407C>T (p.Thr1136Ile)	PTPRQ (T1136I)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 3352788	NM_001145026.2(PTPRQ):c.4910T>C (p.Leu1637Ser)	PTPRQ (L1637S)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GLikely benign
Select item 3351082	NM_001145026.2(PTPRQ):c.4989G>C (p.Thr1663=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related disorder	GUncertain significance
Select item 3351016	NM_001145026.2(PTPRQ):c.1187-24TTTC[8]	PTPRQ	Microsatellite (intron variant)	PTPRQ-related disorder	GLikely benign
Select item 3348635	NM_001145026.2(PTPRQ):c.6644A>G (p.His2215Arg)	PTPRQ (H2215R)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 3346980	NM_001145026.2(PTPRQ):c.254G>T (p.Arg85Met)	PTPRQ (R85M)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 3345887	NM_001145026.2(PTPRQ):c.1534C>T (p.Pro512Ser)	PTPRQ (P512S)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GLikely benign
Select item 3345515	NM_001145026.2(PTPRQ):c.3813T>C (p.Gly1271=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related disorder	GLikely benign
Select item 3345349	NM_001145026.2(PTPRQ):c.5728G>A (p.Val1910Ile)	PTPRQ (V1910I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 3343558	NM_001145026.2(PTPRQ):c.985C>T (p.Pro329Ser)	PTPRQ (P329S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342993	NM_001145026.2(PTPRQ):c.4630A>T (p.Asn1544Tyr)	PTPRQ (N1544Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340958	NM_001145026.2(PTPRQ):c.2035G>A (p.Ala679Thr)	PTPRQ (A679T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340153	NM_001145026.2(PTPRQ):c.473_474insTA (p.Val159fs)	PTPRQ (V159fs)	Insertion (frameshift variant)	Hearing loss, autosomal recessive	GPathogenic
Select item 3338156	NM_001145026.2(PTPRQ):c.536G>A (p.Arg179Gln)	PTPRQ (R179Q)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 3337500	NM_001145026.2(PTPRQ):c.1957G>T (p.Glu653Ter)	PTPRQ (E653*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3336279	NM_001145026.2(PTPRQ):c.1375A>T (p.Met459Leu)	PTPRQ (M459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257187	NM_001145026.2(PTPRQ):c.3037A>C (p.Thr1013Pro)	PTPRQ (T1013P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253350	NM_001145026.2(PTPRQ):c.1018G>C (p.Val340Leu)	PTPRQ (V340L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253314	NM_001145026.2(PTPRQ):c.373A>G (p.Thr125Ala)	PTPRQ (T125A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253304	NM_001145026.2(PTPRQ):c.5221G>T (p.Asp1741Tyr)	PTPRQ (D1741Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252916	NM_001145026.2(PTPRQ):c.2356C>A (p.Pro786Thr)	PTPRQ (P786T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251157	NM_001145026.2(PTPRQ):c.4102G>A (p.Gly1368Arg)	PTPRQ (G1368R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250691	NM_001145026.2(PTPRQ):c.1341G>C (p.Leu447Phe)	PTPRQ (L447F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3250513	NM_001145026.2(PTPRQ):c.4144A>T (p.Thr1382Ser)	PTPRQ (T1382S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3234172	NM_001145026.2(PTPRQ):c.391-3040A>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063246	GRCh37/hg19 12q21.31(chr12:80696867-81266911)x1	LIN7A, MYF5 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3058182	NM_001145026.2(PTPRQ):c.6006G>A (p.Lys2002=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related disorder	GBenign
Select item 3057360	NM_001145026.2(PTPRQ):c.2473C>T (p.Gln825Ter)	PTPRQ (Q825*)	Single nucleotide variant (nonsense)	PTPRQ-related disorder	GBenign
Select item 3056886	NM_001145026.2(PTPRQ):c.713G>A (p.Gly238Asp)	PTPRQ (G238D)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GBenign
Select item 3056084	NM_001145026.2(PTPRQ):c.4169T>C (p.Met1390Thr)	PTPRQ (M1390T)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GBenign
Select item 3052717	NM_001145026.2(PTPRQ):c.4105A>G (p.Ile1369Val)	PTPRQ (I1369V)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GLikely benign
Select item 3051821	NM_001145026.2(PTPRQ):c.4199C>A (p.Thr1400Asn)	PTPRQ (T1400N)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GLikely benign
Select item 3048345	NM_001145026.2(PTPRQ):c.90C>T (p.Tyr30=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related disorder	GLikely benign
Select item 3039950	NM_001145026.2(PTPRQ):c.5408T>C (p.Val1803Ala)	PTPRQ (V1803A)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GLikely benign
Select item 3038817	NM_001145026.2(PTPRQ):c.2379T>C (p.Tyr793=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related disorder	GLikely benign
Select item 3032304	NM_001145026.2(PTPRQ):c.1098A>G (p.Pro366=)	PTPRQ	Single nucleotide variant (synonymous variant)	PTPRQ-related disorder	GLikely benign
Select item 3031409	NM_001145026.2(PTPRQ):c.1736del (p.Asn579fs)	PTPRQ (N579fs)	Deletion (frameshift variant)	PTPRQ-related disorder	GLikely pathogenic
Select item 3027214	NM_001145026.2(PTPRQ):c.1703-9_1703-4del	PTPRQ	Deletion (intron variant)	not provided	GUncertain significance
Select item 3026183	NM_001145026.2(PTPRQ):c.391-3102T>G	PTPRQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2685442	GRCh37/hg19 12q21.31(chr12:80867157-81043054)x1	PTPRQ	Copy number loss	not provided	GUncertain significance
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2672512	NM_001145026.2(PTPRQ):c.51A>C (p.Thr17=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662248	NM_001145026.2(PTPRQ):c.2218T>G (p.Phe740Val)	PTPRQ (F740V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662001	NM_001145026.2(PTPRQ):c.1613C>T (p.Pro538Leu)	PTPRQ (P538L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643197	NM_001145026.2(PTPRQ):c.6880T>C (p.Trp2294Arg)	PTPRQ (W2294R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643196	NM_001145026.2(PTPRQ):c.6476G>A (p.Arg2159Gln)	PTPRQ (R2159Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2643195	NM_001145026.2(PTPRQ):c.6349C>A (p.Pro2117Thr)	PTPRQ (P2117T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643194	NM_001145026.2(PTPRQ):c.5579G>T (p.Cys1860Phe)	PTPRQ (C1860F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643193	NM_001145026.2(PTPRQ):c.4168A>G (p.Met1390Val)	PTPRQ (M1390V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643192	NM_001145026.2(PTPRQ):c.390+18G>T	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636538	NM_001145026.2(PTPRQ):c.6245C>G (p.Thr2082Arg)	PTPRQ (T2082R)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 2635778	NM_001145026.2(PTPRQ):c.2172A>T (p.Leu724Phe)	PTPRQ (L724F)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 2635725	NM_001145026.2(PTPRQ):c.2939A>C (p.Gln980Pro)	PTPRQ (Q980P)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 2633831	NM_001145026.2(PTPRQ):c.1649C>T (p.Thr550Ile)	PTPRQ (T550I)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 2633574	NM_001145026.2(PTPRQ):c.3205del (p.Ala1069fs)	PTPRQ (A1069fs)	Deletion (frameshift variant)	PTPRQ-related disorder	GLikely pathogenic
Select item 2632896	NM_001145026.2(PTPRQ):c.2912C>T (p.Pro971Leu)	PTPRQ (P971L)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 2632049	NM_001145026.2(PTPRQ):c.4481C>T (p.Ala1494Val)	PTPRQ (A1494V)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 2631116	NM_001145026.2(PTPRQ):c.5216C>T (p.Thr1739Ile)	PTPRQ (T1739I)	Single nucleotide variant (missense variant)	PTPRQ-related disorder	GUncertain significance
Select item 2582600	NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter)	PTPRQ (S874*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 2578284	NM_001145026.2(PTPRQ):c.4373G>A (p.Gly1458Asp)	PTPRQ (G1458D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578192	NM_001145026.2(PTPRQ):c.5053G>T (p.Asp1685Tyr)	PTPRQ (D1685Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578073	NM_001145026.2(PTPRQ):c.3401C>G (p.Ser1134Cys)	PTPRQ (S1134C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576826	NM_001145026.2(PTPRQ):c.6638T>C (p.Leu2213Pro)	PTPRQ (L2213P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575699	NM_001145026.2(PTPRQ):c.6268G>A (p.Val2090Met)	PTPRQ (V2090M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575685	NM_001145026.2(PTPRQ):c.1843T>C (p.Phe615Leu)	PTPRQ (F615L)	Single nucleotide variant (missense 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 2572797	NM_001145026.2(PTPRQ):c.1034C>G (p.Pro345Arg)	PTPRQ (P345R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 5