"GeneDx"[submitter] AND "MAX"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1245444	NM_197957.4(MAX):c.46_47dup	CHURC1-FNTB, FNTB +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233463	NM_197957.4(MAX):c.*47dup	CHURC1-FNTB, FNTB +2 more	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233970	NM_197957.4(MAX):c.172-194C>T	CHURC1-FNTB, FNTB +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 313815	NM_002382.5(MAX):c.*92G>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma +1 more	GBenign
Select item 313817	NM_002382.5(MAX):c.*7C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	Pheochromocytoma +2 more	GBenign/Likely benign
Select item 825151	NM_002382.5(MAX):c.475G>A (p.Ala159Thr)	MAX (A96T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 232084	NM_002382.5(MAX):c.467G>A (p.Arg156Gln)	MAX (R156Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1878967	NM_002382.5(MAX):c.456G>C (p.Arg152Ser)	MAX (R116S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 514278	NM_002382.5(MAX):c.435G>A (p.Glu145=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GLikely benign
Select item 404103	NM_002382.5(MAX):c.415G>A (p.Asp139Asn)	MAX (D139N +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 570366	NM_002382.5(MAX):c.410G>A (p.Gly137Asp)	MAX (G137D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GUncertain significance
Select item 463810	NM_002382.5(MAX):c.406G>A (p.Gly136Arg)	MAX (G136R +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 1362396	NM_002382.5(MAX):c.382G>A (p.Gly128Ser)	MAX (G128S +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 576522	NM_002382.5(MAX):c.376G>A (p.Ala126Thr)	MAX (A126T +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 463808	NM_002382.5(MAX):c.360C>A (p.Asn120Lys)	MAX (N120K +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3367434	NM_002382.5(MAX):c.350C>G (p.Ser117Cys)	MAX (S108C +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 239150	NM_002382.5(MAX):c.341A>C (p.Asn114Thr)	MAX (N114T +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1106272	NM_002382.5(MAX):c.333G>A (p.Leu111=)	MAX	Single nucleotide variant (synonymous variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 485703	NM_002382.5(MAX):c.331C>G (p.Leu111Val)	MAX (L111V +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 239149	NM_002382.5(MAX):c.329A>C (p.Gln110Pro)	MAX (Q110P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 513738	NM_002382.5(MAX):c.315G>A (p.Ala105=)	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GLikely benign
Select item 229959	NM_002382.5(MAX):c.314C>T (p.Ala105Val)	MAX (A105V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1191533	NM_002382.5(MAX):c.296-589A>C	MAX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270590	NM_002382.5(MAX):c.295+264G>T	MAX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676931	NM_002382.5(MAX):c.295+181G>A	MAX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253101	NM_002382.5(MAX):c.293A>G (p.Gln98Arg)	MAX (K7E +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 141678	NM_002382.5(MAX):c.233dup (p.Asn78fs)	MAX (N78fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 29786	NM_002382.5(MAX):c.223C>T (p.Arg75Ter)	MAX (R75* +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GPathogenic OLikely oncogenic
Select item 1214024	NM_002382.5(MAX):c.172-61C>T	MAX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190910	NM_002382.5(MAX):c.172-167del	MAX	Deletion (intron variant)	not provided	GLikely benign
Select item 1236461	NM_002382.5(MAX):c.172-171A>T	MAX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676930	NM_002382.5(MAX):c.172-189_172-188del	MAX	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1218036	NM_002382.5(MAX):c.172-196C>T	MAX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262659	NM_002382.5(MAX):c.172-322G>A	MAX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220329	NM_002382.5(MAX):c.172-5876C>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1226433	NM_002382.5(MAX):c.172-6062A>T	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1292808	NM_002382.5(MAX):c.172-6112T>A	MAX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3370745	NM_002382.5(MAX):c.172-6265_172-6260delinsGCTC	MAX	Indel (intron variant +1 more)	not provided	GUncertain significance
Select item 1193377	NM_002382.5(MAX):c.172-6443T>A	MAX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248388	NM_002382.5(MAX):c.171+231T>A	LOC100506321, MAX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676929	NM_002382.5(MAX):c.171+36A>G	LOC100506321, MAX	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 507609	NM_002382.5(MAX):c.171+20T>C	LOC100506321, MAX	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 1703285	NM_002382.5(MAX):c.73C>T (p.Arg25Trp)	LOC100506321, MAX (R16W +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
Select item 1202796	NM_002382.5(MAX):c.63+67G>A	MAX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235640	NM_002382.5(MAX):c.63+49C>T	MAX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 463812	NM_002382.5(MAX):c.57A>G (p.Gln19=)	MAX	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 404106	NM_002382.5(MAX):c.56A>T (p.Gln19Leu)	MAX (Q19L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 234154	NM_002382.5(MAX):c.41A>G (p.Glu14Gly)	MAX (E14G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 496156	NM_002382.5(MAX):c.37-15del	MAX	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GBenign/Likely benign
Select item 1262061	NM_002382.5(MAX):c.37-273G>A	MAX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198263	NM_002382.5(MAX):c.36+138C>T	LOC130055850, MAX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 313819	NM_002382.5(MAX):c.25G>T (p.Val9Leu)	LOC130055850, MAX (V9L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 485708	NM_002382.5(MAX):c.14A>G (p.Asp5Gly)	LOC130055850, MAX (D5G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 463813	NM_002382.5(MAX):c.6C>T (p.Ser2=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GLikely benign
Select item 422821	NM_002382.5(MAX):c.-46C>T	LOC130055850, MAX	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 313823	NM_002382.5(MAX):c.-94G>C	LOC130055850, MAX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 313826	NM_002382.5(MAX):c.-100T>G	LOC130055850, MAX	Single nucleotide variant (5 prime UTR variant)	Pheochromocytoma +1 more	GBenign/Likely benign
Select item 1234222	NC_000014.9:g.65102743C>G	MAX	Single nucleotide variant	not provided	GBenign
Select item 1286987	NC_000014.9:g.65102752del	MAX	Deletion	not provided	GBenign

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Items: 59