"Ambry Genetics"[submitter] AND "LOC130067016"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2453189	NM_006767.4(LZTR1):c.-5C>T	LOC130067016, LZTR1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 1736902	NM_006767.4(LZTR1):c.-3G>A	LOC130067016, LZTR1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238268	NM_006767.4(LZTR1):c.-2G>A	LOC130067016, LZTR1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1403744	NM_006767.4(LZTR1):c.1A>G (p.Met1Val)	LOC130067016, LZTR1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3238279	NM_006767.4(LZTR1):c.3G>A (p.Met1Ile)	LOC130067016, LZTR1 (M1I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2456291	NM_006767.4(LZTR1):c.5_11dup (p.Gly5fs)	LOC130067016, LZTR1 (G5fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1750982	NM_006767.4(LZTR1):c.5C>G (p.Ala2Gly)	LOC130067016, LZTR1 (A2G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238031	NM_006767.4(LZTR1):c.11C>T (p.Pro4Leu)	LOC130067016, LZTR1 (P4L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1747014	NM_006767.4(LZTR1):c.11C>A (p.Pro4Gln)	LOC130067016, LZTR1 (P4Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1769365	NM_006767.4(LZTR1):c.12G>A (p.Pro4=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1773978	NM_006767.4(LZTR1):c.14G>A (p.Gly5Asp)	LOC130067016, LZTR1 (G5D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238124	NM_006767.4(LZTR1):c.16A>C (p.Ser6Arg)	LOC130067016, LZTR1 (S6R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1780366	NM_006767.4(LZTR1):c.17G>A (p.Ser6Asn)	LOC130067016, LZTR1 (S6N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1784155	NM_006767.4(LZTR1):c.19del (p.Thr7fs)	LOC130067016, LZTR1 (T7fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1782298	NM_006767.4(LZTR1):c.19_21delinsCC (p.Thr7fs)	LOC130067016, LZTR1 (T7fs)	Indel (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2882632	NM_006767.4(LZTR1):c.20del (p.Thr7fs)	LOC130067016, LZTR1 (T7fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1785875	NM_006767.4(LZTR1):c.20C>G (p.Thr7Arg)	LOC130067016, LZTR1 (T7R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 1787615	NM_006767.4(LZTR1):c.21G>T (p.Thr7=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1787610	NM_006767.4(LZTR1):c.21G>C (p.Thr7=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1334203	NM_006767.4(LZTR1):c.21G>A (p.Thr7=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
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 2149130	NM_006767.4(LZTR1):c.22G>A (p.Gly8Arg)	LOC130067016, LZTR1 (G8R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 859758	NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)	LOC130067016, LZTR1 (G8W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2727091	NM_006767.4(LZTR1):c.23G>T (p.Gly8Val)	LOC130067016, LZTR1 (G8V)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +3 more	GUncertain significance
Select item 1790713	NM_006767.4(LZTR1):c.23G>A (p.Gly8Glu)	LOC130067016, LZTR1 (G8E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 1792229	NM_006767.4(LZTR1):c.24G>C (p.Gly8=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2447756	NM_006767.4(LZTR1):c.25_26delinsA (p.Gly9fs)	LOC130067016, LZTR1 (G9fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1793657	NM_006767.4(LZTR1):c.25G>T (p.Gly9Trp)	LOC130067016, LZTR1 (G9W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1792241	NM_006767.4(LZTR1):c.25_26delinsTT (p.Gly9Leu)	LOC130067016, LZTR1 (G9L)	Indel (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1794905	NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)	LZTR1, LOC130067016 (G9E)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +3 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 918118	NM_006767.4(LZTR1):c.27G>A (p.Gly9=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 3238267	NM_006767.4(LZTR1):c.29A>C (p.Gln10Pro)	LOC130067016, LZTR1 (Q10P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1731014	NM_006767.4(LZTR1):c.33C>T (p.Ile11=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1733073	NM_006767.4(LZTR1):c.35G>A (p.Gly12Glu)	LOC130067016, LZTR1 (G12E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1544671	NM_006767.4(LZTR1):c.36G>A (p.Gly12=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1735046	NM_006767.4(LZTR1):c.37G>A (p.Ala13Thr)	LOC130067016, LZTR1 (A13T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1735997	NM_006767.4(LZTR1):c.38C>T (p.Ala13Val)	LOC130067016, LZTR1 (A13V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238283	NM_006767.4(LZTR1):c.42_44delinsCG (p.Leu16fs)	LOC130067016, LZTR1 (L16fs)	Indel (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1570829	NM_006767.4(LZTR1):c.42G>C (p.Ala14=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1321350	NM_006767.4(LZTR1):c.42G>A (p.Ala14=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2496784	NM_006767.4(LZTR1):c.44C>G (p.Ala15Gly)	LOC130067016, LZTR1 (A15G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1343621	NM_006767.4(LZTR1):c.44C>T (p.Ala15Val)	LOC130067016, LZTR1 (A15V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1741786	NM_006767.4(LZTR1):c.45C>T (p.Ala15=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3238296	NM_006767.4(LZTR1):c.46C>G (p.Leu16Val)	LOC130067016, LZTR1 (L16V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238297	NM_006767.4(LZTR1):c.47T>G (p.Leu16Arg)	LOC130067016, LZTR1 (L16R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 934595	NM_006767.4(LZTR1):c.47T>C (p.Leu16Pro)	LOC130067016, LZTR1 (L16P)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +3 more	GUncertain significance
Select item 2496778	NM_006767.4(LZTR1):c.48G>T (p.Leu16=)	LZTR1, LOC130067016	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1743970	NM_006767.4(LZTR1):c.48G>C (p.Leu16=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1743954	NM_006767.4(LZTR1):c.48G>A (p.Leu16=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2447736	NM_006767.4(LZTR1):c.50C>T (p.Ala17Val)	LOC130067016, LZTR1 (A17V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1744717	NM_006767.4(LZTR1):c.50_51del (p.Ala17fs)	LOC130067016, LZTR1 (A17fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1746697	NM_006767.4(LZTR1):c.52G>T (p.Gly18Cys)	LOC130067016, LZTR1 (G18C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238306	NM_006767.4(LZTR1):c.53G>A (p.Gly18Asp)	LOC130067016, LZTR1 (G18D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2447700	NM_006767.4(LZTR1):c.54C>A (p.Gly18=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1168614	NM_006767.4(LZTR1):c.54C>G (p.Gly18=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1748558	NM_006767.4(LZTR1):c.55G>A (p.Gly19Ser)	LOC130067016, LZTR1 (G19S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1435344	NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg)	LOC130067016, LZTR1 (G19R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1029085	NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)	LOC130067016, LZTR1 (A20T)	Single nucleotide variant (missense variant)	Noonan syndrome 10 +3 more	GUncertain significance
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 1751618	NM_006767.4(LZTR1):c.60G>T (p.Ala20=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1752718	NM_006767.4(LZTR1):c.62G>A (p.Arg21Gln)	LOC130067016, LZTR1 (R21Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 599520	NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro)	LOC130067016, LZTR1 (R21P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1753326	NM_006767.4(LZTR1):c.63G>T (p.Arg21=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 2496790	NM_006767.4(LZTR1):c.70G>A (p.Val24Ile)	LOC130067016, LZTR1 (V24I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1501876	NM_006767.4(LZTR1):c.73G>T (p.Ala25Ser)	LOC130067016, LZTR1 (A25S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 1593321	NM_006767.4(LZTR1):c.75C>T (p.Ala25=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 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 1488297	NM_006767.4(LZTR1):c.80G>C (p.Ser27Thr)	LZTR1, LOC130067016 (S27T)	Single nucleotide variant (missense variant)	Schwannomatosis 2 +3 more	GUncertain significance
Select item 2447746	NM_006767.4(LZTR1):c.87C>T (p.Asp29=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 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 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 1770663	NM_006767.4(LZTR1):c.102C>T (p.Cys34=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3238008	NM_006767.4(LZTR1):c.104C>T (p.Ser35Leu)	LOC130067016, LZTR1 (S35L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1788782	NM_006767.4(LZTR1):c.108C>T (p.Asp36=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1727947	NM_006767.4(LZTR1):c.112G>A (p.Val38Ile)	LOC130067016, LZTR1 (V38I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3238023	NM_006767.4(LZTR1):c.114C>T (p.Val38=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1459953	NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)	LOC130067016, LZTR1 (E39*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely 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 2496794	NM_006767.4(LZTR1):c.120C>G (p.Tyr40Ter)	LOC130067016, LZTR1 (Y40*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 3238040	NM_006767.4(LZTR1):c.123G>C (p.Leu41=)	LOC130067016, LZTR1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign

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Items: 90