ClinVar for Gene (Select 5800) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068067	NM_030667.3(PTPRO):c.3226T>G (p.Trp1076Gly)	PTPRO (W1048G +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 3064746	NM_030667.3(PTPRO):c.3418G>A (p.Val1140Met)	PTPRO (V1112M +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3061149	NM_030667.3(PTPRO):c.1891+6G>T	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related condition	GLikely benign
Select item 3058058	NM_030667.3(PTPRO):c.945C>T (p.Ser315=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition	GLikely benign
Select item 3055938	NM_030667.3(PTPRO):c.3546+9A>G	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related condition	GLikely benign
Select item 3051782	NM_030667.3(PTPRO):c.3288C>T (p.Asn1096=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition	GLikely benign
Select item 3050500	NM_030667.3(PTPRO):c.3255+7C>T	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related condition	GLikely benign
Select item 3048263	NM_030667.3(PTPRO):c.2438-10A>C	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related condition	GLikely benign
Select item 3047187	NM_030667.3(PTPRO):c.1093A>T (p.Ile365Phe)	PTPRO (I365F)	Single nucleotide variant (missense variant)	PTPRO-related condition	GUncertain significance
Select item 3045811	NM_030667.3(PTPRO):c.1891+8A>T	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related condition	GLikely benign
Select item 3036640	NM_030667.3(PTPRO):c.1836G>A (p.Thr612=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition	GLikely benign
Select item 3036572	NM_030667.3(PTPRO):c.255G>A (p.Lys85=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition	GLikely benign
Select item 3032894	NM_030667.3(PTPRO):c.663C>A (p.Ala221=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition	GLikely benign
Select item 3032280	NM_030667.3(PTPRO):c.1308G>A (p.Pro436=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition	GLikely benign
Select item 3031850	NM_030667.3(PTPRO):c.3530C>T (p.Ser1177Phe)	PTPRO (S1149F +3 more)	Single nucleotide variant (missense variant)	PTPRO-related condition	GLikely benign
Select item 3031660	NM_030667.3(PTPRO):c.1158A>C (p.Ala386=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition	GLikely benign
Select item 3030292	NM_030667.3(PTPRO):c.2748-10T>C	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related condition	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 3020396	NM_030667.3(PTPRO):c.1461T>C (p.Thr487=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020248	NM_030667.3(PTPRO):c.3255+12G>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996942	NM_030667.3(PTPRO):c.1106-7G>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996941	NM_030667.3(PTPRO):c.661+7C>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972237	NM_030667.3(PTPRO):c.2044-20T>C	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967679	NM_030667.3(PTPRO):c.1585+16C>A	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961038	NM_030667.3(PTPRO):c.2274A>G (p.Gln758=)	PTPRO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960829	NM_030667.3(PTPRO):c.2044-18A>G	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959395	NM_030667.3(PTPRO):c.1314C>T (p.His438=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955243	NM_030667.3(PTPRO):c.708C>T (p.Asn236=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920197	NM_030667.3(PTPRO):c.2331C>T (p.Val777=)	PTPRO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919378	NM_030667.3(PTPRO):c.1465-4A>C	PTPRO	Single nucleotide variant (intron 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 2868746	NM_030667.3(PTPRO):c.756C>T (p.Phe252=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860862	NM_030667.3(PTPRO):c.2997+18dup	PTPRO	Duplication (intron variant)	not provided	GBenign
Select item 2851480	NM_030667.3(PTPRO):c.1622T>G (p.Leu541Trp)	PTPRO (L541W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802549	NM_030667.3(PTPRO):c.1329T>G (p.Val443=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2729980	NM_030667.3(PTPRO):c.2920+8C>T	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721159	NM_030667.3(PTPRO):c.1099C>A (p.Arg367=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2716604	NM_030667.3(PTPRO):c.1631C>T (p.Thr544Met)	PTPRO (T544M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700924	NM_030667.3(PTPRO):c.2747+10T>C	PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689845	NM_030667.3(PTPRO):c.2920T>C (p.Tyr974His)	PTPRO (Y135H +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 2683186	NM_030667.3(PTPRO):c.3215A>G (p.Glu1072Gly)	PTPRO (E1044G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
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 2642762	NM_030667.3(PTPRO):c.3297A>G (p.Ala1099=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642761	NM_030667.3(PTPRO):c.1872T>C (p.Ser624=)	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 2630196	NM_030667.3(PTPRO):c.76-67403G>A	PTPRO	Single nucleotide variant (intron variant)	PTPRO-related condition	GUncertain significance
Select item 2624224	NM_030667.3(PTPRO):c.1315G>C (p.Val439Leu)	PTPRO (V439L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623404	NM_030667.3(PTPRO):c.697G>A (p.Val233Ile)	PTPRO (V233I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621437	NM_030667.3(PTPRO):c.89T>C (p.Phe30Ser)	PTPRO (F30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615809	NM_030667.3(PTPRO):c.1742A>G (p.Tyr581Cys)	PTPRO (Y581C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615530	NM_030667.3(PTPRO):c.2400C>A (p.Ser800Arg)	PTPRO (S800R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2571816	NM_030667.3(PTPRO):c.2437+43AT[7]	PTPRO	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2551442	NM_030667.3(PTPRO):c.3513G>A (p.Met1171Ile)	PTPRO (M1143I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513392	NM_030667.3(PTPRO):c.844G>A (p.Gly282Ser)	PTPRO (G282S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510788	NM_030667.3(PTPRO):c.1874C>T (p.Thr625Ile)	PTPRO (T625I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495615	NM_030667.3(PTPRO):c.2083C>G (p.Pro695Ala)	LOC126861467, PTPRO (P695A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492082	NM_030667.3(PTPRO):c.2580T>A (p.Phe860Leu)	PTPRO (F860L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486177	NM_030667.3(PTPRO):c.1100G>A (p.Arg367Gln)	PTPRO (R367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477464	NM_030667.3(PTPRO):c.31G>A (p.Ala11Thr)	PTPRO (A11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2435292	NM_030667.3(PTPRO):c.2750C>T (p.Pro917Leu)	PTPRO (P106L +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 6	GUncertain significance
Select item 2419372	NM_030667.3(PTPRO):c.3262G>A (p.Glu1088Lys)	PTPRO (E1060K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415134	NM_030667.3(PTPRO):c.336C>T (p.Ile112=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414959	NM_030667.3(PTPRO):c.2055T>C (p.Asn685=)	LOC126861467, PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406729	NM_030667.3(PTPRO):c.2128G>A (p.Gly710Arg)	LOC126861467, PTPRO (G710R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402423	NM_030667.3(PTPRO):c.3271G>C (p.Asp1091His)	PTPRO (D1091H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345221	NM_030667.3(PTPRO):c.953C>T (p.Pro318Leu)	PTPRO (P318L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334144	NM_030667.3(PTPRO):c.1912A>G (p.Thr638Ala)	PTPRO (T638A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321266	NM_030667.3(PTPRO):c.1262A>G (p.Tyr421Cys)	PTPRO (Y421C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315882	NM_030667.3(PTPRO):c.956T>C (p.Met319Thr)	PTPRO (M319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312748	NM_030667.3(PTPRO):c.856T>C (p.Phe286Leu)	PTPRO (F286L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308972	NM_030667.3(PTPRO):c.109G>A (p.Asp37Asn)	PTPRO (D37N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307477	NM_030667.3(PTPRO):c.22A>C (p.Ile8Leu)	PTPRO (I8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268300	NM_030667.3(PTPRO):c.1859G>T (p.Cys620Phe)	PTPRO (C620F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258632	NM_030667.3(PTPRO):c.47C>G (p.Pro16Arg)	PTPRO (P16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246954	NM_030667.3(PTPRO):c.1639G>A (p.Val547Ile)	PTPRO (V547I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240458	NM_030667.3(PTPRO):c.3371A>G (p.Gln1124Arg)	PTPRO (Q1124R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231271	NM_030667.3(PTPRO):c.1885A>G (p.Ile629Val)	PTPRO (I629V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224520	NM_030667.3(PTPRO):c.1961G>C (p.Gly654Ala)	PTPRO (G654A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217648	NM_030667.3(PTPRO):c.2284A>G (p.Ser762Gly)	PTPRO (S762G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215806	NM_030667.3(PTPRO):c.2299C>G (p.Leu767Val)	PTPRO (L767V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211109	NM_030667.3(PTPRO):c.1222G>C (p.Glu408Gln)	PTPRO (E408Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190661	NM_030667.3(PTPRO):c.2519C>T (p.Thr840Ile)	PTPRO (T29I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2189431	NM_030667.3(PTPRO):c.1551T>G (p.Ile517Met)	PTPRO (I517M)	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 2182028	NM_030667.3(PTPRO):c.2044-8T>A	LOC126861467, PTPRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180228	NM_030667.3(PTPRO):c.1905G>A (p.Pro635=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition +1 more	GLikely benign
Select item 2170933	NM_030667.3(PTPRO):c.60C>G (p.Leu20=)	PTPRO	Single nucleotide variant (synonymous variant)	PTPRO-related condition +1 more	GLikely 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 2165420	NM_030667.3(PTPRO):c.822T>A (p.Ile274=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164275	NM_030667.3(PTPRO):c.1668C>T (p.Gly556=)	PTPRO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2159946	NM_030667.3(PTPRO):c.1777G>A (p.Val593Met)	PTPRO (V593M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2154829	NM_030667.3(PTPRO):c.2920+9G>A	PTPRO	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2150654	NM_030667.3(PTPRO):c.2226G>A (p.Leu742=)	PTPRO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2145045	NM_030667.3(PTPRO):c.2279G>A (p.Gly760Asp)	PTPRO (G760D)	Single nucleotide variant (missense variant +1 more)	not provided	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 2116990	NM_030667.3(PTPRO):c.2305-1G>C	PTPRO	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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