"GeneDx"[submitter] AND "LZTR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59232	GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1	LOC132090638, LOC132090918 +62 more	Copy number loss	See cases	GPathogenic
Select item 59234	GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1	AIFM3, CRKL +61 more	Copy number loss	See cases	GPathogenic
Select item 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145120	GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1	AIFM3, CRKL +52 more	Copy number loss	See cases	GPathogenic
Select item 561839	NM_006767.3(LZTR1):c.-299G>A	LZTR1	Single nucleotide variant	not provided	GBenign
Select item 561399	NM_006767.3(LZTR1):c.-160G>C	LZTR1	Single nucleotide variant	not provided	GBenign
Select item 561400	NM_006767.3(LZTR1):c.-112A>T	LZTR1	Single nucleotide variant	not provided	GBenign
Select item 549752	NM_006767.4(LZTR1):c.-38T>A	LZTR1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 389662	NM_006767.4(LZTR1):c.-11G>A	LZTR1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 928479	NM_006767.4(LZTR1):c.-6C>T	LZTR1, LOC130067016	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +2 more	GBenign
Select item 561803	NM_006767.4(LZTR1):c.-4C>T	LZTR1, LOC130067016	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372684	NM_006767.4(LZTR1):c.27dup (p.Gln10fs)	LZTR1, LOC130067016 (Q10fs)	Duplication (frameshift variant)	Noonan syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 143931	NM_006767.4(LZTR1):c.27del (p.Gln10fs)	LOC130067016, LZTR1 (Q10fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 1496147	NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)	LOC130067016, LZTR1 (G8R)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +4 more	GUncertain significance
Select item 933179	NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)	LOC130067016, LZTR1 (G8A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1192247	NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)	LOC130067016, LZTR1 (G9V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 522164	NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)	LOC130067016, LZTR1 (G9A)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 452228	NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)	LOC130067016, LZTR1 (A20V)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +4 more	GUncertain significance
Select item 1761995	NM_006767.4(LZTR1):c.80G>A (p.Ser27Asn)	LOC130067016, LZTR1 (S27N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 704250	NM_006767.4(LZTR1):c.96T>C (p.His32=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 3375822	NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)	LOC130067016, LZTR1 (S35*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1307218	NM_006767.4(LZTR1):c.118T>C (p.Tyr40His)	LOC130067016, LZTR1 (Y40H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 524146	NM_006767.4(LZTR1):c.150_151del (p.Val51fs)	LZTR1 (V51fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3252123	NM_006767.4(LZTR1):c.160_171del (p.Trp54_Leu57del)	LZTR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2443451	NM_006767.4(LZTR1):c.170T>G (p.Leu57Arg)	LZTR1 (L57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429914	NM_006767.4(LZTR1):c.173C>G (p.Pro58Arg)	LZTR1 (P58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1071200	NM_006767.4(LZTR1):c.180C>A (p.Cys60Ter)	LZTR1 (C60*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2446097	NM_006767.4(LZTR1):c.187T>C (p.Phe63Leu)	LZTR1 (F63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368105	NM_006767.4(LZTR1):c.190G>C (p.Val64Leu)	LZTR1 (V64L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018834	NM_006767.4(LZTR1):c.199C>T (p.Arg67Trp)	LZTR1 (R67W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227303	NM_006767.4(LZTR1):c.200+79G>A	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561673	NM_006767.4(LZTR1):c.201-172C>A	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246352	NM_006767.4(LZTR1):c.201-142T>A	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561409	NM_006767.4(LZTR1):c.201-50G>A	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187148	NM_006767.4(LZTR1):c.201-40A>G	LZTR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496334	NM_006767.4(LZTR1):c.201-13C>T	LZTR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 496335	NM_006767.4(LZTR1):c.201-8C>T	LZTR1	Single nucleotide variant (intron variant)	Noonan syndrome and Noonan-related syndrome +1 more	GBenign/Likely benign
Select item 280158	NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser)	LZTR1 (R68S)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +1 more	GUncertain significance
Select item 1784878	NM_006767.4(LZTR1):c.203G>A (p.Arg68His)	LZTR1 (R68H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 379392	NM_006767.4(LZTR1):c.210G>A (p.Lys70=)	LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 3372788	NM_006767.4(LZTR1):c.232G>A (p.Asp78Asn)	LZTR1 (D78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1789992	NM_006767.4(LZTR1):c.234T>C (p.Asp78=)	LZTR1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2496777	NM_006767.4(LZTR1):c.242A>G (p.Tyr81Cys)	LZTR1 (Y81C)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +3 more	GUncertain significance
Select item 1512809	NM_006767.4(LZTR1):c.260A>G (p.Asn87Ser)	LZTR1 (N87S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1508335	NM_006767.4(LZTR1):c.263G>T (p.Gly88Val)	LZTR1 (G88V)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 1066305	NM_006767.4(LZTR1):c.263+1G>A	LZTR1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1794044	NM_006767.4(LZTR1):c.263+5G>T	LZTR1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1254541	NM_006767.4(LZTR1):c.263+5G>A	LZTR1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1256896	NM_006767.4(LZTR1):c.263+37=	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219535	NM_006767.4(LZTR1):c.264-247A>G	LZTR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561528	NM_006767.4(LZTR1):c.264-215T>G	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561401	NM_006767.4(LZTR1):c.264-42T>C	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 101034	NM_006767.4(LZTR1):c.264-13G>A	LZTR1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 1794206	NM_006767.4(LZTR1):c.264-2A>C	LZTR1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 546581	NM_006767.4(LZTR1):c.272T>C (p.Met91Thr)	LZTR1 (M91T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1803329	NM_006767.4(LZTR1):c.280G>T (p.Asp94Tyr)	LZTR1 (D94Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188709	NM_006767.4(LZTR1):c.290G>A (p.Arg97Gln)	LZTR1 (R97Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3363968	NM_006767.4(LZTR1):c.291_293del (p.Phe98del)	LZTR1 (F98del)	Deletion	not provided	GUncertain significance
Select item 2573922	NM_006767.4(LZTR1):c.295G>A (p.Asp99Asn)	LZTR1 (D99N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 561711	NM_006767.4(LZTR1):c.311C>T (p.Ser104Phe)	LZTR1 (S104F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 450299	NM_006767.4(LZTR1):c.319A>G (p.Arg107Gly)	LZTR1 (R107G)	Single nucleotide variant (missense variant)	LZTR1-related disorder +3 more	GUncertain significance
Select item 1297494	NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr)	LZTR1 (R107T)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 3340398	NM_006767.4(LZTR1):c.320+2T>C	LZTR1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 856380	NM_006767.4(LZTR1):c.320+5del	LZTR1	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452486	NM_006767.4(LZTR1):c.320+5G>A	LZTR1	Single nucleotide variant (intron variant)	Schwannomatosis 2 +1 more	GUncertain significance
Select item 516236	NM_006767.4(LZTR1):c.320+12C>T	LZTR1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 390570	NM_006767.4(LZTR1):c.320+13G>T	LZTR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512514	NM_006767.4(LZTR1):c.320+15G>A	LZTR1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 561585	NM_006767.4(LZTR1):c.320+189C>T	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242351	NM_006767.4(LZTR1):c.321-101dup	LZTR1	Duplication (intron variant)	not provided	GBenign
Select item 1217857	NM_006767.4(LZTR1):c.321-102_321-101dup	LZTR1	Duplication (intron variant)	not provided	GLikely benign
Select item 1274610	NM_006767.4(LZTR1):c.321-107_321-101del	LZTR1	Deletion (intron variant)	not provided	GBenign
Select item 1179554	NM_006767.4(LZTR1):c.321-106A>G	LZTR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 703848	NM_006767.4(LZTR1):c.321-14_321-3del	LZTR1	Deletion (intron variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign
Select item 1728959	NM_006767.4(LZTR1):c.321-2del	LZTR1	Deletion (splice acceptor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 3238271	NM_006767.4(LZTR1):c.331A>C (p.Thr111Pro)	LZTR1 (T111P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3365710	NM_006767.4(LZTR1):c.344C>A (p.Pro115Gln)	LZTR1 (P115Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372993	NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu)	LZTR1 (P115L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 1184916	NM_006767.4(LZTR1):c.352dup (p.Arg118fs)	LZTR1 (R118fs)	Duplication (frameshift variant)	Schwannomatosis 2 +3 more	GPathogenic/Likely pathogenic
Select item 1731828	NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)	LZTR1 (A116V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 504043	NM_006767.4(LZTR1):c.348_349insT (p.Pro117fs)	LZTR1 (P117fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1006717	NM_006767.4(LZTR1):c.361C>T (p.His121Tyr)	LZTR1 (H121Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 101035	NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	LZTR1 (S122L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 809328	NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)	LZTR1 (V125del)	Microsatellite (inframe_deletion)	Schwannomatosis 2 +4 more	GConflicting classifications of pathogenicity
Select item 2500683	NM_006767.4(LZTR1):c.370G>T (p.Val124Phe)	LZTR1 (V124F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1158766	NM_006767.4(LZTR1):c.372C>T (p.Val124=)	LZTR1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1734466	NM_006767.4(LZTR1):c.373G>C (p.Val125Leu)	LZTR1 (V125L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1370567	NM_006767.4(LZTR1):c.373G>A (p.Val125Ile)	LZTR1 (V125I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 511156	NM_006767.4(LZTR1):c.375C>A (p.Val125=)	LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1735501	NM_006767.4(LZTR1):c.384C>T (p.Ser128=)	LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1735578	NM_006767.4(LZTR1):c.385A>G (p.Ser129Gly)	LZTR1 (S129G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 561529	NM_006767.4(LZTR1):c.401-130G>C	LZTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244420	NM_006767.4(LZTR1):c.401-26G>A	LZTR1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GBenign
Select item 1519001	NM_006767.4(LZTR1):c.401-2A>G	LZTR1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1001414	NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn)	LZTR1 (T137N)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 3366121	NM_006767.4(LZTR1):c.413G>C (p.Gly138Ala)	LZTR1 (G138A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450998	NM_006767.4(LZTR1):c.431C>A (p.Ser144Tyr)	LZTR1 (S144Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1309660	NM_006767.4(LZTR1):c.434A>T (p.Asn145Ile)	LZTR1 (N145I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546580	NM_006767.4(LZTR1):c.436T>A (p.Leu146Met)	LZTR1 (L146M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 450698	NM_006767.4(LZTR1):c.438del (p.Lys147fs)	LZTR1 (K147fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic

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