ClinVar for Gene (Select 8216) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257847	NM_006767.4(LZTR1):c.1483G>T (p.Glu495Ter)	LZTR1 (E495*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257379	NM_006767.4(LZTR1):c.994-6C>T	LZTR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3256717	NM_006767.3:c.(?_-1)_(*1_?)del	LZTR1	Deletion	Schwannomatosis 2	GPathogenic
Select item 3253065	NM_006767.4(LZTR1):c.833C>T (p.Pro278Leu)	LZTR1 (P278L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252963	NM_006767.4(LZTR1):c.1332C>A (p.Asp444Glu)	LZTR1 (D444E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252123	NM_006767.4(LZTR1):c.160_171del (p.Trp54_Leu57del)	LZTR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3251465	NM_006767.4(LZTR1):c.960C>G (p.Thr320=)	LZTR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242285	GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3	AIFM3, CRKL +12 more	Copy number gain	not provided	GUncertain significance
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3241876	NM_006767.4(LZTR1):c.1785+5_1785+29del	LZTR1	Deletion (intron variant)	Schwannomatosis 2	GUncertain significance
Select item 3241875	NM_006767.4(LZTR1):c.1721T>A (p.Val574Glu)	LZTR1 (V574E)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241874	NM_006767.4(LZTR1):c.1510dup (p.Ala504fs)	LZTR1 (A504fs)	Duplication (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 3241873	NM_006767.4(LZTR1):c.637del (p.Thr213fs)	LZTR1 (T213fs)	Deletion (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 3241872	NM_006767.4(LZTR1):c.2321T>A (p.Leu774Gln)	LZTR1 (L774Q)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241871	NM_006767.4(LZTR1):c.637A>T (p.Thr213Ser)	LZTR1 (T213S)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241870	NM_006767.4(LZTR1):c.1799del (p.Asn600fs)	LZTR1 (N600fs)	Deletion (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 3241869	NM_006767.4(LZTR1):c.311C>G (p.Ser104Cys)	LZTR1 (S104C)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241868	NM_006767.4(LZTR1):c.2407-19C>A	LZTR1	Single nucleotide variant (intron variant)	Schwannomatosis 2	GUncertain significance
Select item 3241867	NM_006767.4(LZTR1):c.593+5G>T	LZTR1	Single nucleotide variant (intron variant)	Schwannomatosis 2	GUncertain significance
Select item 3241866	NM_006767.4(LZTR1):c.2270A>C (p.Gln757Pro)	LZTR1 (Q757P)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241865	NM_006767.4(LZTR1):c.1616-33G>A	LZTR1	Single nucleotide variant (intron variant)	Schwannomatosis 2	GUncertain significance
Select item 3241863	NM_006767.4(LZTR1):c.173C>T (p.Pro58Leu)	LZTR1 (P58L)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241862	NM_006767.4(LZTR1):c.800_801del (p.Arg267fs)	LZTR1 (R267fs)	Deletion (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 3241861	NM_006767.4(LZTR1):c.400+2T>G	LZTR1	Single nucleotide variant (splice donor variant)	Schwannomatosis 2	GLikely pathogenic
Select item 3241859	NM_006767.4(LZTR1):c.1149+49C>A	LZTR1	Single nucleotide variant (intron variant)	Schwannomatosis 2	GUncertain significance
Select item 3241858	NM_006767.4(LZTR1):c.1839G>C (p.Met613Ile)	LZTR1 (M613I)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241857	NM_006767.4(LZTR1):c.1668C>G (p.Ser556Arg)	LZTR1 (S556R)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241856	NM_006767.4(LZTR1):c.982T>A (p.Ser328Thr)	LZTR1 (S328T)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241855	NM_006767.4(LZTR1):c.2114A>C (p.Gln705Pro)	LZTR1 (Q705P)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241854	NM_006767.4(LZTR1):c.1900C>T (p.Gln634Ter)	LZTR1 (Q634*)	Single nucleotide variant (nonsense)	Schwannomatosis 2	GLikely pathogenic
Select item 3241853	NM_006767.4(LZTR1):c.2189del (p.Gly730fs)	LZTR1 (G730fs)	Deletion (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 3241852	NM_006767.4(LZTR1):c.2455G>C (p.Asp819His)	LZTR1 (D819H)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241851	NM_006767.4(LZTR1):c.962G>C (p.Trp321Ser)	LZTR1 (W321S)	Single nucleotide variant (missense variant)	Schwannomatosis 2	GUncertain significance
Select item 3241850	NM_006767.4(LZTR1):c.2050_2062delinsGGCCCCCA (p.Ile684fs)	LZTR1 (I684fs)	Indel (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 3238380	NM_006767.4(LZTR1):c.662G>A (p.Ser221Asn)	LZTR1 (S221N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238379	NM_006767.4(LZTR1):c.993+5G>A	LZTR1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238377	NM_006767.4(LZTR1):c.96T>A (p.His32Gln)	LOC130067016, LZTR1 (H32Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238376	NM_006767.4(LZTR1):c.964G>T (p.Glu322Ter)	LZTR1 (E322*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238375	NM_006767.4(LZTR1):c.94C>T (p.His32Tyr)	LOC130067016, LZTR1 (H32Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3238373	NM_006767.4(LZTR1):c.935A>G (p.His312Arg)	LZTR1 (H312R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238372	NM_006767.4(LZTR1):c.933_940dup (p.Tyr314fs)	LZTR1 (Y314fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238371	NM_006767.4(LZTR1):c.930G>A (p.Glu310=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238370	NM_006767.4(LZTR1):c.928_931del (p.Glu310fs)	LZTR1 (E310fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238369	NM_006767.4(LZTR1):c.926A>G (p.Asn309Ser)	LZTR1 (N309S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238368	NM_006767.4(LZTR1):c.902dup (p.Ala302fs)	LZTR1 (A302fs)	Duplication (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238367	NM_006767.4(LZTR1):c.901G>T (p.Gly301Cys)	LZTR1 (G301C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238366	NM_006767.4(LZTR1):c.899G>A (p.Gly300Glu)	LZTR1 (G300E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238365	NM_006767.4(LZTR1):c.896T>C (p.Phe299Ser)	LZTR1 (F299S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238364	NM_006767.4(LZTR1):c.891T>G (p.Tyr297Ter)	LZTR1 (Y297*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238363	NM_006767.4(LZTR1):c.890A>C (p.Tyr297Ser)	LZTR1 (Y297S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238362	NM_006767.4(LZTR1):c.885C>T (p.His295=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238360	NM_006767.4(LZTR1):c.881G>C (p.Arg294Pro)	LZTR1 (R294P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238359	NM_006767.4(LZTR1):c.880C>A (p.Arg294Ser)	LZTR1 (R294S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238358	NM_006767.4(LZTR1):c.867G>A (p.Met289Ile)	LZTR1 (M289I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238357	NM_006767.4(LZTR1):c.866T>G (p.Met289Arg)	LZTR1 (M289R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238356	NM_006767.4(LZTR1):c.866T>C (p.Met289Thr)	LZTR1 (M289T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238355	NM_006767.4(LZTR1):c.861T>G (p.His287Gln)	LZTR1 (H287Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238354	NM_006767.4(LZTR1):c.854A>C (p.Tyr285Ser)	LZTR1 (Y285S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238352	NM_006767.4(LZTR1):c.842C>A (p.Pro281Gln)	LZTR1 (P281Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238351	NM_006767.4(LZTR1):c.837A>G (p.Pro279=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238350	NM_006767.4(LZTR1):c.835C>A (p.Pro279Thr)	LZTR1 (P279T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3238349	NM_006767.4(LZTR1):c.825G>C (p.Arg275=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238348	NM_006767.4(LZTR1):c.819G>A (p.Leu273=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238347	NM_006767.4(LZTR1):c.813A>C (p.Glu271Asp)	LZTR1 (E271D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238346	NM_006767.4(LZTR1):c.80G>T (p.Ser27Ile)	LOC130067016, LZTR1 (S27I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238345	NM_006767.4(LZTR1):c.809C>T (p.Thr270Ile)	LZTR1 (T270I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238344	NM_006767.4(LZTR1):c.805C>G (p.Pro269Ala)	LZTR1 (P269A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238343	NM_006767.4(LZTR1):c.801C>T (p.Arg267=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238342	NM_006767.4(LZTR1):c.791+2T>C	LZTR1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238341	NM_006767.4(LZTR1):c.780C>A (p.Phe260Leu)	LZTR1 (F260L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238340	NM_006767.4(LZTR1):c.77del (p.Pro26fs)	LOC130067016, LZTR1 (P26fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238339	NM_006767.4(LZTR1):c.774T>G (p.Phe258Leu)	LZTR1 (F258L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238338	NM_006767.4(LZTR1):c.773T>G (p.Phe258Cys)	LZTR1 (F258C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238337	NM_006767.4(LZTR1):c.769C>T (p.Gln257Ter)	LZTR1 (Q257*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238336	NM_006767.4(LZTR1):c.747C>T (p.Ala249=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238335	NM_006767.4(LZTR1):c.747C>A (p.Ala249=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238334	NM_006767.4(LZTR1):c.722_725del (p.Phe241fs)	LZTR1 (F241fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238333	NM_006767.4(LZTR1):c.720G>A (p.Met240Ile)	LZTR1 (M240I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238332	NM_006767.4(LZTR1):c.718del (p.Met240fs)	LZTR1 (M240fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238331	NM_006767.4(LZTR1):c.718A>T (p.Met240Leu)	LZTR1 (M240L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238330	NM_006767.4(LZTR1):c.713A>T (p.Asp238Val)	LZTR1 (D238V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238329	NM_006767.4(LZTR1):c.712G>T (p.Asp238Tyr)	LZTR1 (D238Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238328	NM_006767.4(LZTR1):c.712G>A (p.Asp238Asn)	LZTR1 (D238N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238327	NM_006767.4(LZTR1):c.710G>C (p.Arg237Pro)	LZTR1 (R237P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238326	NM_006767.4(LZTR1):c.702T>G (p.Ala234=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238325	NM_006767.4(LZTR1):c.695C>T (p.Pro232Leu)	LZTR1 (P232L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238324	NM_006767.4(LZTR1):c.691T>A (p.Phe231Ile)	LZTR1 (F231I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238323	NM_006767.4(LZTR1):c.679T>A (p.Ser227Thr)	LZTR1 (S227T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238322	NM_006767.4(LZTR1):c.678A>C (p.Pro226=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238321	NM_006767.4(LZTR1):c.672_673delinsA (p.Pro226fs)	LZTR1 (P226fs)	Indel (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238320	NM_006767.4(LZTR1):c.671del (p.Ile224fs)	LZTR1 (I224fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238319	NM_006767.4(LZTR1):c.65C>T (p.Ser22Phe)	LOC130067016, LZTR1 (S22F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238318	NM_006767.4(LZTR1):c.655G>T (p.Ala219Ser)	LZTR1 (A219S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238317	NM_006767.4(LZTR1):c.642C>T (p.Cys214=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238316	NM_006767.4(LZTR1):c.619C>A (p.Leu207Ile)	LZTR1 (L207I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238315	NM_006767.4(LZTR1):c.606del (p.Met202fs)	LZTR1 (M202fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238314	NM_006767.4(LZTR1):c.594-1G>A	LZTR1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238313	NM_006767.4(LZTR1):c.593+4G>T	LZTR1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238312	NM_006767.4(LZTR1):c.586A>C (p.Asn196His)	LZTR1 (N196H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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