PTPRS[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 205

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 2558274	NM_002850.4(PTPRS):c.5779G>C (p.Asp1927His)	PTPRS (D1885H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039921	NM_002850.4(PTPRS):c.5779-10G>T	PTPRS	Single nucleotide variant (intron variant)	PTPRS-related condition	GLikely benign
Select item 3034275	NM_002850.4(PTPRS):c.5778+7A>C	PTPRS	Single nucleotide variant (intron variant)	PTPRS-related condition	GLikely benign
Select item 3033817	NM_002850.4(PTPRS):c.5772G>A (p.Gln1924=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3033274	NM_002850.4(PTPRS):c.5751C>G (p.Thr1917=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2509442	NM_002850.4(PTPRS):c.5741T>C (p.Met1914Thr)	PTPRS (M1876T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055096	NM_002850.4(PTPRS):c.5712C>T (p.Gly1904=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GUncertain significance
Select item 2630107	NM_002850.4(PTPRS):c.5675C>A (p.Thr1892Lys)	PTPRS (T1445K +6 more)	Single nucleotide variant (missense variant)	PTPRS-related condition	GUncertain significance
Select item 2316767	NM_002850.4(PTPRS):c.5574C>A (p.Asp1858Glu)	PTPRS (D1415E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041878	NM_002850.4(PTPRS):c.5571C>T (p.Ile1857=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GBenign
Select item 726821	NM_002850.4(PTPRS):c.5555C>T (p.Ser1852Leu)	PTPRS (S1409L +3 more)	Single nucleotide variant (missense variant)	PTPRS-related condition +1 more	GLikely benign
Select item 2216633	NM_002850.4(PTPRS):c.5542G>A (p.Gly1848Ser)	PTPRS (G1806S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050393	NM_002850.4(PTPRS):c.5535G>A (p.Pro1845=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2492173	NM_002850.4(PTPRS):c.5369G>A (p.Cys1790Tyr)	PTPRS (C1347Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429091	NM_002850.4(PTPRS):c.5278A>G (p.Thr1760Ala)	PTPRS (T1313A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047402	NM_002850.4(PTPRS):c.5274G>A (p.Ala1758=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3048605	NM_002850.4(PTPRS):c.5256G>A (p.Ala1752=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3033015	NM_002850.4(PTPRS):c.5250C>T (p.Tyr1750=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 782049	NM_002850.4(PTPRS):c.5223T>C (p.Ile1741=)	PTPRS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2271923	NM_002850.4(PTPRS):c.5216G>C (p.Ser1739Thr)	PTPRS (S1292T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769948	NM_002850.4(PTPRS):c.5211C>T (p.Asn1737=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition +1 more	GBenign
Select item 2522796	NM_002850.4(PTPRS):c.5150A>G (p.Tyr1717Cys)	PTPRS (Y1270C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533576	NM_002850.4(PTPRS):c.5129G>A (p.Arg1710His)	PTPRS (R1668H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548055	NM_002850.4(PTPRS):c.5121C>A (p.Phe1707Leu)	PTPRS (F1678L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333417	NM_002850.4(PTPRS):c.5098G>A (p.Ala1700Thr)	PTPRS (A1253T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1176706	NM_002850.4(PTPRS):c.5082G>A (p.Thr1694=)	PTPRS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369681	NM_002850.4(PTPRS):c.5056C>T (p.Arg1686Trp)	PTPRS (R1644W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041830	NM_002850.4(PTPRS):c.4944C>T (p.Ala1648=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GBenign
Select item 2260866	NM_002850.4(PTPRS):c.4927G>A (p.Glu1643Lys)	PTPRS (E1196K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782616	NM_002850.4(PTPRS):c.4926C>T (p.His1642=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition +1 more	GBenign
Select item 3047923	NM_002850.4(PTPRS):c.4902G>A (p.Thr1634=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2649109	NM_002850.4(PTPRS):c.4866G>A (p.Thr1622=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition +1 more	GLikely benign
Select item 2380106	NM_002850.4(PTPRS):c.4822C>T (p.Arg1608Trp)	PTPRS (R1586W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049647	NM_002850.4(PTPRS):c.4806C>T (p.Ile1602=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2287677	NM_002850.4(PTPRS):c.4774G>A (p.Gly1592Ser)	PTPRS (G1592S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649110	NM_002850.4(PTPRS):c.4773C>T (p.Ala1591=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition +1 more	GLikely benign
Select item 773079	NM_002850.4(PTPRS):c.4770-6C>T	PTPRS	Single nucleotide variant (intron variant)	PTPRS-related condition +1 more	GBenign
Select item 638621	NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met)	PTPRS (V1586M +3 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 2649111	NM_002850.4(PTPRS):c.4714C>T (p.Arg1572Trp)	PTPRS (R1125W +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041883	NM_002850.4(PTPRS):c.4695G>A (p.Thr1565=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3036760	NM_002850.4(PTPRS):c.4668G>A (p.Pro1556=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 744385	NM_002850.4(PTPRS):c.4662G>A (p.Ala1554=)	PTPRS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046410	NM_002850.4(PTPRS):c.4614+10_4614+15del	PTPRS	Deletion (intron variant)	PTPRS-related condition	GLikely benign
Select item 3047687	NM_002850.4(PTPRS):c.4557G>A (p.Thr1519=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2385422	NM_002850.4(PTPRS):c.4546A>G (p.Ile1516Val)	PTPRS (I1069V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373102	NM_002850.4(PTPRS):c.4529C>T (p.Thr1510Met)	PTPRS (T1067M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055981	NM_002850.4(PTPRS):c.4500G>A (p.Lys1500=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GBenign
Select item 2216553	NM_002850.4(PTPRS):c.4462G>A (p.Val1488Ile)	PTPRS (V1045I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465756	NM_002850.4(PTPRS):c.4454C>T (p.Ala1485Val)	PTPRS (A1463V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349583	NM_002850.4(PTPRS):c.4453G>A (p.Ala1485Thr)	PTPRS (A1463T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048115	NM_002850.4(PTPRS):c.4452G>A (p.Ser1484=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3047791	NM_002850.4(PTPRS):c.4392G>A (p.Thr1464=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2317061	NM_002850.4(PTPRS):c.4366C>G (p.Arg1456Gly)	PTPRS (R1009G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040284	NM_002850.4(PTPRS):c.4332T>C (p.Ser1444=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GBenign
Select item 733326	NM_002850.4(PTPRS):c.4318+7C>T	PTPRS	Single nucleotide variant (intron variant)	PTPRS-related condition +1 more	GLikely benign
Select item 2322763	NM_002850.4(PTPRS):c.4262G>A (p.Arg1421His)	PTPRS (R1421H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030744	NM_002850.4(PTPRS):c.4215G>A (p.Gln1405=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3047576	NM_002850.4(PTPRS):c.4197C>T (p.Ser1399=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3041692	NM_002850.4(PTPRS):c.4194+9A>C	PTPRS	Single nucleotide variant (intron variant)	PTPRS-related condition	GLikely benign
Select item 3033964	NM_002850.4(PTPRS):c.4137G>A (p.Ala1379=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2480311	NM_002850.4(PTPRS):c.4129G>A (p.Asp1377Asn)	PTPRS (D1377N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494622	NM_002850.4(PTPRS):c.4079C>T (p.Pro1360Leu)	PTPRS (P1360L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1677932	NM_002850.4(PTPRS):c.4048+14C>T	PTPRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2461325	NM_002850.4(PTPRS):c.3991G>A (p.Ala1331Thr)	PTPRS (A1305T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236326	NM_002850.4(PTPRS):c.3968G>A (p.Cys1323Tyr)	PTPRS (C896Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244163	NM_002850.4(PTPRS):c.3961A>G (p.Thr1321Ala)	PTPRS (T890A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054369	NM_002850.4(PTPRS):c.3930C>T (p.Pro1310=)	PTPRS	Single nucleotide variant (synonymous variant +1 more)	PTPRS-related condition	GLikely benign
Select item 3047317	NM_002850.4(PTPRS):c.3915C>G (p.Leu1305=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2543122	NM_002850.4(PTPRS):c.3829G>C (p.Val1277Leu)	PTPRS (V846L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384673	NM_002850.4(PTPRS):c.3829G>A (p.Val1277Met)	PTPRS (V1277M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050701	NM_002850.4(PTPRS):c.3763C>G (p.Pro1255Ala)	PTPRS (P1233A +4 more)	Single nucleotide variant (missense variant)	PTPRS-related condition	GBenign
Select item 782617	NM_002850.4(PTPRS):c.3759C>T (p.Ser1253=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition +1 more	GBenign
Select item 3053444	NM_002850.4(PTPRS):c.3744C>T (p.Ala1248=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2316047	NM_002850.4(PTPRS):c.3694G>A (p.Asp1232Asn)	PTPRS (D801N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047361	NM_002850.4(PTPRS):c.3687C>T (p.Gly1229=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2606675	NM_002850.4(PTPRS):c.3664C>G (p.Pro1222Ala)	PTPRS (P791A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226655	NM_002850.4(PTPRS):c.3617G>C (p.Arg1206Pro)	PTPRS (R1206P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313706	NM_002850.4(PTPRS):c.3611T>G (p.Val1204Gly)	PTPRS (V773G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562592	NM_002850.4(PTPRS):c.3598C>T (p.Arg1200Cys)	PTPRS (R769C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487173	NM_002850.4(PTPRS):c.3581G>A (p.Arg1194His)	PTPRS (R1172H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410886	NM_002850.4(PTPRS):c.3569G>A (p.Arg1190Gln)	PTPRS (R1177Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465780	NM_002850.4(PTPRS):c.3541C>A (p.Leu1181Met)	PTPRS (L750M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782618	NM_002850.4(PTPRS):c.3508C>T (p.Leu1170=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition +1 more	GBenign
Select item 2204986	NM_002850.4(PTPRS):c.3466A>G (p.Ile1156Val)	PTPRS (I1156V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031579	NM_002850.4(PTPRS):c.3432C>T (p.Asp1144=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 2601211	NM_002850.4(PTPRS):c.3416T>C (p.Met1139Thr)	PTPRS (M1117T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509708	NM_002850.4(PTPRS):c.3406G>A (p.Gly1136Ser)	PTPRS (G1136S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038701	NM_002850.4(PTPRS):c.3405C>T (p.Asp1135=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 3044442	NM_002850.4(PTPRS):c.3381C>T (p.Ser1127=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 590933	NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr)	PTPRS (A1115T +3 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 777490	NM_002850.4(PTPRS):c.3342C>T (p.Thr1114=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition +1 more	GBenign
Select item 719413	NM_002850.4(PTPRS):c.3321C>T (p.Gly1107=)	PTPRS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3061553	NM_002850.4(PTPRS):c.3264C>T (p.His1088=)	PTPRS	Single nucleotide variant (synonymous variant)	PTPRS-related condition	GLikely benign
Select item 756814	NM_002850.4(PTPRS):c.3202-4G>A	PTPRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2327052	NM_002850.4(PTPRS):c.3187C>A (p.Pro1063Thr)	PTPRS (P1041T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327144	NM_002850.4(PTPRS):c.3169C>T (p.Pro1057Ser)	PTPRS (P1035S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049920	NM_002850.4(PTPRS):c.3103+8C>T	PTPRS	Single nucleotide variant (intron variant)	PTPRS-related condition	GLikely benign

<< First< Prev

Page of 3