ClinVar for Gene (Select 374462) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GLikely benign
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
Select item 2572749	NM_001145026.2(PTPRQ):c.6116A>G (p.Tyr2039Cys)	PTPRQ (Y2039C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2570841	NM_001145026.2(PTPRQ):c.3873+7T>C	PTPRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2570840	NC_000012.12:g.80436384T>C	PTPRQ	Single nucleotide variant	not provided	GLikely benign
Select item 2507417	NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)	PTPRQ	Duplication (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 84A	GUncertain significance
Select item 2507333	NM_001145026.2(PTPRQ):c.5335A>G (p.Ser1779Gly)	PTPRQ (S1779G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506725	NM_001145026.2(PTPRQ):c.2999A>G (p.His1000Arg)	PTPRQ (H1000R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502538	NM_001145026.2(PTPRQ):c.6333A>G (p.Arg2111=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2501642	NM_001145026.2(PTPRQ):c.5012A>G (p.Asn1671Ser)	PTPRQ (N1671S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501599	NM_001145026.2(PTPRQ):c.4693A>G (p.Ile1565Val)	PTPRQ (I1565V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501401	NM_001145026.2(PTPRQ):c.5657_5658del (p.Asp1885_Ser1886insTer)	PTPRQ	Microsatellite (nonsense)	not provided	GLikely pathogenic
Select item 2501376	NM_001145026.2(PTPRQ):c.2270C>T (p.Thr757Ile)	PTPRQ (T757I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501373	NM_001145026.2(PTPRQ):c.4718T>C (p.Ile1573Thr)	PTPRQ (I1573T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501109	NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)	PTPRQ (N1008Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 2500687	NM_001145026.2(PTPRQ):c.5424T>A (p.Asp1808Glu)	PTPRQ (D1808E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500581	NM_001145026.2(PTPRQ):c.5912C>T (p.Thr1971Met)	PTPRQ (T1971M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499938	NM_001145026.2(PTPRQ):c.3434C>T (p.Thr1145Ile)	PTPRQ (T1145I)	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 2446617	NM_001145026.2(PTPRQ):c.1641T>C (p.Ser547=)	PTPRQ	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2446547	NM_001145026.2(PTPRQ):c.2362G>A (p.Gly788Arg)	PTPRQ (G788R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444610	NM_001145026.2(PTPRQ):c.3484C>G (p.Leu1162Val)	PTPRQ (L1162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442575	NM_001145026.2(PTPRQ):c.4868A>T (p.Tyr1623Phe)	PTPRQ (Y1623F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435294	NM_001145026.2(PTPRQ):c.4721A>G (p.Asp1574Gly)	PTPRQ (D1574G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435293	NM_001145026.2(PTPRQ):c.5017A>C (p.Asn1673His)	PTPRQ (N1673H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431060	NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)	PTPRQ (L1103fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 2430800	NM_001145026.2(PTPRQ):c.5686+28dup	PTPRQ	Duplication (intron variant)	not provided	GLikely benign
Select item 2430434	NM_001145026.2(PTPRQ):c.6317A>T (p.Glu2106Val)	PTPRQ (E2106V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412902	NM_001145026.2(PTPRQ):c.6695T>C (p.Val2232Ala)	PTPRQ (V2232A)	Single nucleotide variant (missense variant)	not provided	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 2392902	NM_001145026.2(PTPRQ):c.73G>A (p.Val25Ile)	PTPRQ (V25I)	Single nucleotide variant (missense variant)	not provided +1 more	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 2242953	NM_001145026.2(PTPRQ):c.79G>C (p.Gly27Arg)	PTPRQ (G27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1878739	NM_001145026.2(PTPRQ):c.101T>G (p.Ile34Ser)	PTPRQ (I34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810498	NM_001145026.2(PTPRQ):c.3874-6T>A	PTPRQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1809827	NM_001145026.2(PTPRQ):c.6329T>C (p.Ile2110Thr)	PTPRQ (I2110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808224	GRCh37/hg19 12q21.31(chr12:80431630-80930827)x3	OTOGL, PTPRQ	Copy number gain	not provided	GUncertain significance
Select item 1804507	NM_001145026.2(PTPRQ):c.2408A>G (p.Asn803Ser)	PTPRQ (N803S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803391	NM_001145026.2(PTPRQ):c.5596C>G (p.Pro1866Ala)	PTPRQ (P1866A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801082	NM_001145026.2(PTPRQ):c.3586T>C (p.Ser1196Pro)	PTPRQ (S1196P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800596	NM_001145026.2(PTPRQ):c.3359A>T (p.Asp1120Val)	PTPRQ (D1120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1799534	NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs)	PTPRQ (E909fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 84A	GPathogenic
Select item 1799533	NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)	PTPRQ (R431*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 84A	GLikely pathogenic
Select item 1723823	NM_001145026.2(PTPRQ):c.3572C>A (p.Pro1191Gln)	PTPRQ (P1191Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723624	NM_001145026.2(PTPRQ):c.5248A>G (p.Thr1750Ala)	PTPRQ (T1750A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1711351	NM_001145026.2(PTPRQ):c.3112A>G (p.Asn1038Asp)	PTPRQ (N1038D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710611	NM_001145026.2(PTPRQ):c.3596C>T (p.Thr1199Ile)	PTPRQ (T1199I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708565	NM_001145026.2(PTPRQ):c.6001C>A (p.Leu2001Ile)	PTPRQ (L2001I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707069	NM_001145026.2(PTPRQ):c.1946C>A (p.Ser649Tyr)	PTPRQ (S649Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705929	NM_001145026.2(PTPRQ):c.5893C>A (p.Leu1965Met)	PTPRQ (L1965M)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 73	GUncertain significance
Select item 1703452	NM_001145026.2(PTPRQ):c.6164C>T (p.Ser2055Leu)	PTPRQ (S2055L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701207	NM_001145026.2(PTPRQ):c.1571T>C (p.Ile524Thr)	PTPRQ (I524T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693038	NM_001145026.2(PTPRQ):c.5728G>T (p.Val1910Phe)	PTPRQ (V1910F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1691059	NM_001145026.2(PTPRQ):c.1363A>G (p.Ile455Val)	PTPRQ (I455V)	Single nucleotide variant (missense variant)	See cases	GLikely benign

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