ClinVar for MedGen (Select 902892) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691252	NM_006767.4(LZTR1):c.274C>A (p.Leu92Ile)	LZTR1 (L92I)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 1806155	NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn)	LZTR1 (S556N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806110	NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)	LZTR1	Indel (missense variant)	Noonan syndrome 10	GLikely pathogenic
Select item 1805922	NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)	LZTR1 (D139G)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GLikely pathogenic
Select item 1801482	NM_006767.4(LZTR1):c.209A>T (p.Lys70Met)	LZTR1 (K70M)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 1789645	NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)	LZTR1 (Q775H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1734186	NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)	LZTR1 (V124I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1712745	NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser)	LZTR1 (N148S)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +2 more	GUncertain significance
Select item 1712333	NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr)	LZTR1 (D99Y)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 1712283	NM_006767.4(LZTR1):c.2470C>G (p.Leu824Val)	LZTR1 (L824V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1710263	NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp)	LZTR1 (R55W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1699229	NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)	LZTR1	Duplication (inframe_insertion)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1696733	NM_006767.4(LZTR1):c.895_898del (p.Phe299fs)	LZTR1 (F299fs)	Deletion (frameshift variant)	Noonan syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1691534	NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro)	LZTR1 (A381P)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +1 more	GUncertain significance
Select item 1683643	NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)	LZTR1 (K360*)	Single nucleotide variant (nonsense)	Noonan syndrome 2 +2 more	GLikely pathogenic
Select item 1644013	NM_006767.4(LZTR1):c.1689G>A (p.Glu563=)	LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1517849	NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)	LZTR1 (R412H)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +6 more	GConflicting classifications of pathogenicity
Select item 1512851	NM_006767.4(LZTR1):c.1943-1G>A	LZTR1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely pathogenic
Select item 1496147	NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)	LOC130067016, LZTR1 (G8R)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +4 more	GUncertain significance
Select item 1453718	NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)	LZTR1 (Y155*)	Single nucleotide variant (nonsense)	Schwannomatosis 2 +6 more	GPathogenic/Likely pathogenic
Select item 1370567	NM_006767.4(LZTR1):c.373G>A (p.Val125Ile)	LZTR1 (V125I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1365703	NM_006767.4(LZTR1):c.1942+3A>G	LZTR1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1339704	NM_006767.4(LZTR1):c.1354-5T>A	LZTR1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1334311	NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter)	LZTR1 (Q784*)	Single nucleotide variant (nonsense)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1333955	NM_006767.4(LZTR1):c.320+1G>C	LZTR1	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 1325798	NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu)	LZTR1 (S176L)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +2 more	GUncertain significance
Select item 1320159	NM_006767.4(LZTR1):c.2501_2502del (p.Ala834fs)	LZTR1 (A834fs)	Deletion (frameshift variant)	Noonan syndrome 10	GPathogenic
Select item 1308414	NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp)	LZTR1 (R170W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1305284	NM_006767.4(LZTR1):c.1260+1G>A	LZTR1	Single nucleotide variant (splice donor variant)	LZTR1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1098836	NM_006767.4(LZTR1):c.946G>A (p.Val316Met)	LZTR1 (V316M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 1098770	NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)	LZTR1 (R471H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1052307	NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp)	LZTR1 (R697W)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +4 more	GUncertain significance
Select item 1034314	NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser)	LZTR1 (G837S)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 1034312	NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys)	LZTR1 (R725C)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +4 more	GUncertain significance
Select item 1034310	NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser)	LZTR1 (R418S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1029085	NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)	LOC130067016, LZTR1 (A20T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1029084	NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr)	LZTR1 (A108T)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 1029083	NM_006767.4(LZTR1):c.2070-12C>A	LZTR1	Single nucleotide variant (intron variant)	Noonan syndrome 10	GUncertain significance
Select item 1020726	NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly)	LZTR1 (S330G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1015541	NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys)	LZTR1 (E660K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1014327	NM_006767.4(LZTR1):c.2260A>C (p.Asn754His)	LZTR1 (N754H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1006717	NM_006767.4(LZTR1):c.361C>T (p.His121Tyr)	LZTR1 (H121Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1000399	NM_006767.4(LZTR1):c.404G>T (p.Gly135Val)	LZTR1 (G135V)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +3 more	GUncertain significance
Select item 998255	NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg)	LZTR1 (S813R)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +1 more	GUncertain significance
Select item 998213	NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser)	LZTR1 (R418S)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 984443	NM_006767.4(LZTR1):c.1785+1G>C	LZTR1	Single nucleotide variant (splice donor variant)	Noonan syndrome 10	GPathogenic
Select item 978716	NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser)	LZTR1 (F241S)	Single nucleotide variant (missense variant)	Noonan syndrome 2 +1 more	GLikely pathogenic
Select item 968299	NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)	LZTR1 (R567H)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 928713	NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp)	LZTR1 (R755W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 918100	NM_006767.4(LZTR1):c.1620T>C (p.His540=)	LZTR1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 852048	NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln)	LZTR1 (R237Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 809333	NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys)	LZTR1 (R638C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 800844	NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)	LZTR1 (Y529H)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 634900	NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His)	LZTR1 (Y749H)	Single nucleotide variant (missense variant)	Noonan syndrome 2 +1 more	GUncertain significance
Select item 634899	NM_006767.4(LZTR1):c.360C>A (p.His120Gln)	LZTR1 (H120Q)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 599030	NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)	LZTR1 (R210*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 561957	NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp)	LZTR1 (R435W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 561716	NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	LZTR1 (R283Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 561683	NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)	LZTR1 (P281L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 559507	NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro)	LZTR1 (L580P)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GUncertain significance
Select item 549752	NM_006767.4(LZTR1):c.-38T>A	LZTR1	Single nucleotide variant (5 prime UTR variant)	Schwannomatosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 546581	NM_006767.4(LZTR1):c.272T>C (p.Met91Thr)	LZTR1 (M91T)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +1 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)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 488877	NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)	LZTR1 (R340*)	Single nucleotide variant (nonsense)	Schwannomatosis 2 +5 more	GConflicting classifications of pathogenicity
Select item 452228	NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)	LZTR1, LOC130067016 (A20V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 448963	NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu)	LZTR1 (G661E)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +4 more	GUncertain significance
Select item 433552	NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)	LZTR1 (P635L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 431371	NM_006767.4(LZTR1):c.271A>G (p.Met91Val)	LZTR1 (M91V)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +2 more	GUncertain significance
Select item 373604	NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys)	LZTR1 (E584K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 373089	NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	LZTR1 (R412C)	Single nucleotide variant (missense variant)	LZTR1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 289969	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	LZTR1 (R362*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 209090	NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn)	LZTR1 (S247N)	Single nucleotide variant (missense variant)	Noonan syndrome 10	GPathogenic
Select item 209089	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	LZTR1 (R284C)	Single nucleotide variant (missense variant)	LZTR1-related condition +5 more	GPathogenic
Select item 209088	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1 (G248R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 143931	NM_006767.4(LZTR1):c.27del (p.Gln10fs)	LZTR1, LOC130067016 (Q10fs)	Deletion (frameshift variant)	Noonan syndrome 10 +5 more	GPathogenic
Select item 101034	NM_006767.4(LZTR1):c.264-13G>A	LZTR1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity

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Items: 76