ClinVar (all) for Orgtrack (Select 1012) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684391	NM_004984.4(KIF5A):c.1480C>T (p.Leu494=)	KIF5A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684390	NM_000336.3(SCNN1B):c.1163G>A (p.Arg388His)	SCNN1B (R352H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684389	NM_000344.4(SMN1):c.618A>G (p.Gly206=)	SMN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684388	NM_000344.4(SMN1):c.43C>T (p.Gln15Ter)	SMN1 (Q15*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684387	NM_004172.5(SLC1A3):c.693G>A (p.Leu231=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2684386	NM_004172.5(SLC1A3):c.593G>A (p.Ser198Asn)	SLC1A3 (S152N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684385	NM_004172.5(SLC1A3):c.363G>T (p.Met121Ile)	SLC1A3 (M121I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684384	NM_004172.5(SLC1A3):c.1279A>G (p.Ile427Val)	SLC1A3 (I315V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684383	NM_022464.5(SIL1):c.135G>A (p.Lys45=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2684382	NM_022464.5(SIL1):c.1100T>C (p.Val367Ala)	SIL1 (V367A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684381	NM_000451.4(SHOX):c.88A>G (p.Lys30Glu)	SHOX (K30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684380	NM_006883.2(SHOX):c.635T>C (p.Met212Thr)	SHOX (M212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684379	NM_004320.6(ATP2A1):c.352G>C (p.Ala118Pro)	ATP2A1 (A118P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684378	NM_000451.4(SHOX):c.*14C>G	SHOX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684377	NM_024577.4(SH3TC2):c.1473C>A (p.Phe491Leu)	SH3TC2 (F491L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684376	NM_024577.4(SH3TC2):c.1472_1474del (p.Phe491del)	SH3TC2 (F491del)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2684375	NM_000231.3(SGCG):c.*2C>T	SGCG	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2684374	NM_015046.7(SETX):c.7628A>T (p.Lys2543Met)	SETX (K2543M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684373	NM_015046.7(SETX):c.7200-3T>C	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 2684372	NM_015046.7(SETX):c.6179G>C (p.Ser2060Thr)	SETX (S2060T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684371	NM_015046.7(SETX):c.6083G>A (p.Cys2028Tyr)	SETX (C2028Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684370	NM_015046.7(SETX):c.4739G>A (p.Arg1580His)	SETX (R1580H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684369	NM_004320.6(ATP2A1):c.1288-5C>G	ATP2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684368	NM_015046.7(SETX):c.3974A>G (p.Lys1325Arg)	SETX (K1325R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684367	NM_015046.7(SETX):c.3566A>G (p.Asn1189Ser)	SETX (N1189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684366	NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2684365	NM_015046.7(SETX):c.100G>A (p.Asp34Asn)	SETX (D34N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684364	NM_015046.7(SETX):c.*2A>G	SETX	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2684363	NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Hyperkalemic periodic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 2684362	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 2684361	NM_014855.3(AP5Z1):c.553C>T (p.Arg185Cys)	AP5Z1 (R185C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684360	NM_001165963.4(SCN1A):c.4476G>C (p.Lys1492Asn)	LOC102724058, SCN1A (K1463N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684359	NM_001165963.4(SCN1A):c.2369del (p.Tyr790fs)	SCN1A (Y761fs +4 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2684358	NM_006946.4(SPTBN2):c.6868C>T (p.Arg2290Ter)	SPTBN2 (R2290* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2684357	NM_014855.3(AP5Z1):c.1767dup (p.Leu590fs)	AP5Z1 (L434fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2684356	NM_006946.4(SPTBN2):c.6567G>A (p.Pro2189=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684355	NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)	SPTBN2 (R2095Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2684354	NM_006946.4(SPTBN2):c.6182CAG[1] (p.Ala2062del)	SPTBN2 (A2062del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2684353	NM_006946.4(SPTBN2):c.5906T>C (p.Met1969Thr)	SPTBN2 (M1969T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684352	NM_006946.4(SPTBN2):c.5811-3dup	SPTBN2	Duplication (intron variant)	not provided	GUncertain significance
Select item 2684351	NM_006946.4(SPTBN2):c.5565+5G>C	SPTBN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684350	NM_006946.4(SPTBN2):c.4514C>T (p.Thr1505Ile)	SPTBN2 (T1505I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684349	NM_006946.4(SPTBN2):c.3166C>T (p.Arg1056Cys)	SPTBN2 (R1056C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684348	NM_006946.4(SPTBN2):c.2605GAG[1] (p.Glu870del)	SPTBN2 (E870del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 2684347	NM_006946.4(SPTBN2):c.2194C>A (p.Leu732Ile)	SPTBN2 (L732I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684346	NM_006946.4(SPTBN2):c.1044C>T (p.Asn348=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684345	NM_006796.3(AFG3L2):c.1386G>A (p.Ala462=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684344	NM_006796.3(AFG3L2):c.1177T>C (p.Phe393Leu)	AFG3L2 (F393L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684343	NM_002739.5(PRKCG):c.8G>A (p.Gly3Asp)	PRKCG (G3D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684342	NM_002739.5(PRKCG):c.70_72delinsCCT (p.Ala24Pro)	PRKCG (A24P)	Indel (missense variant)	not provided	GUncertain significance
Select item 2684341	NM_002739.5(PRKCG):c.425G>A (p.Cys142Tyr)	PRKCG (C142Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684340	NM_030962.4(SBF2):c.3841A>G (p.Thr1281Ala)	SBF2 (T1238A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684339	NM_030962.4(SBF2):c.3632C>A (p.Ser1211Tyr)	SBF2 (S1168Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684338	NM_030962.4(SBF2):c.3456-5T>A	SBF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684337	NM_030962.4(SBF2):c.3454A>G (p.Ser1152Gly)	LOC101928008, SBF2 (S1109G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684336	NM_030962.4(SBF2):c.2947G>A (p.Ala983Thr)	LOC101928008, SBF2 (A940T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684335	NM_000484.4(APP):c.819CAC[6] (p.Thr280del)	APP (T224del +3 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2684334	NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala)	SACS (E2662A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684333	NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)	SACS (R2518C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2684332	NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)	SACS (T2464A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684331	NM_014363.6(SACS):c.7116del (p.Gln2373fs)	SACS (Q2226fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2684330	NM_000484.4(APP):c.2005G>A (p.Val669Met)	APP (V538M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684329	NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe)	SACS (L1634F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684328	NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)	SACS (M1352T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684327	NM_014363.6(SACS):c.2562A>T (p.Lys854Asn)	SACS (K707N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684326	NM_014363.6(SACS):c.2465T>G (p.Ile822Ser)	SACS (I675S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684325	NM_014363.6(SACS):c.2428G>C (p.Glu810Gln)	SACS (E663Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684324	NM_014363.6(SACS):c.1485T>G (p.Phe495Leu)	SACS (F348L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684323	NM_014363.6(SACS):c.1028A>G (p.His343Arg)	SACS (H196R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684322	NM_000540.3(RYR1):c.2087G>T (p.Gly696Val)	RYR1 (G696V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684321	NM_005045.4(RELN):c.5021A>G (p.Lys1674Arg)	RELN (K1674R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684320	NM_030665.4(RAI1):c.3112A>G (p.Met1038Val)	RAI1 (M1038V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684319	NM_004637.6(RAB7A):c.605C>T (p.Ala202Val)	LOC112872299, RAB7A (A202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684318	NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)	PSEN1 (A256G +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 2684317	NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)	PSEN1 (M229L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2684316	NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)	PRX (E1240K +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 2684315	NM_181882.3(PRX):c.2404_2412del (p.Pro802_Met804del)	PRX	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2684314	NM_181882.3(PRX):c.1791G>A (p.Glu597=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2684313	NM_181882.3(PRX):c.1134C>T (p.Ala378=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2684312	NM_213599.3(ANO5):c.2648A>G (p.Lys883Arg)	ANO5 (K868R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684311	NM_013382.7(POMT2):c.1006+10T>C	POMT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684310	NM_002693.3(POLG):c.2852A>G (p.Tyr951Cys)	POLG, POLGARF (Y951C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684309	NM_002693.3(POLG):c.2633T>C (p.Val878Ala)	POLG, POLGARF (V878A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684308	NM_002693.3(POLG):c.2215_2216insG (p.Tyr739Ter)	POLG, POLGARF (Y739*)	Insertion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2684307	NM_001166114.2(PNPLA6):c.795+8A>G	PNPLA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684306	NM_000533.5(PLP1):c.251C>T (p.Ala84Val)	PLP1, RAB9B (A29V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684305	NM_201384.3(PLEC):c.9120C>T (p.Ile3040=)	PLEC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684304	NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)	ANO5 (I521L +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +2 more	GUncertain significance
Select item 2684303	NM_201384.3(PLEC):c.4146_4157del (p.Lys1383_Ala1386del)	PLEC	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2684302	NM_201384.3(PLEC):c.3105G>T (p.Gly1035=)	PLEC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684301	NM_201384.3(PLEC):c.1738-9C>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GConflicting classifications of pathogenicity
Select item 2684300	NM_201384.3(PLEC):c.1418+5G>T	PLEC	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 2684299	NM_201384.3(PLEC):c.10469A>G (p.Gln3490Arg)	PLEC (Q2390R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684298	NM_001009944.3(PKD1):c.9013C>T (p.Gln3005Ter)	PKD1 (Q3005*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684297	NM_001009944.3(PKD1):c.6277C>A (p.His2093Asn)	PKD1 (H2093N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684296	NM_001009944.3(PKD1):c.1256_1258del (p.Cys419del)	PKD1 (C419del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2684295	NM_001009944.3(PKD1):c.1105_1106del (p.Gln368_Ser369insTer)	PKD1	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2684294	NM_018075.5(ANO10):c.966G>A (p.Val322=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2684293	NM_002087.4(GRN):c.837G>A (p.Val279=)	GRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684292	NM_021830.5(TWNK):c.1511C>T (p.Ala504Val)	TWNK (A504V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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