"Baylor Genetics"[submitter] AND "MAX"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647774	NM_002382.5(MAX):c.466C>T (p.Arg156Trp)	MAX (R93W +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 404109	NM_002382.5(MAX):c.425C>T (p.Ser142Leu)	MAX (S142L +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1402174	NM_002382.5(MAX):c.417C>G (p.Asp139Glu)	MAX (D76E +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +2 more	GUncertain significance
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 1059756	NM_002382.5(MAX):c.413C>T (p.Ser138Leu)	MAX (S129L +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +2 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 1518007	NM_002382.5(MAX):c.406G>C (p.Gly136Arg)	MAX (G136R +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +2 more	GUncertain significance
Select item 485704	NM_002382.5(MAX):c.403G>A (p.Asp135Asn)	MAX (D135N +4 more)	Single nucleotide variant (intron variant +2 more)	Pheochromocytoma +2 more	GUncertain significance
Select item 239151	NM_002382.5(MAX):c.397G>A (p.Ala133Thr)	MAX (A133T +4 more)	Single nucleotide variant (missense variant +2 more)	Retinoblastoma +3 more	GConflicting classifications of pathogenicity
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 3241892	NM_002382.5(MAX):c.364C>A (p.Leu122Ile)	MAX (L113I +4 more)	Single nucleotide variant (missense variant +3 more)	Pheochromocytoma	GUncertain significance
Select item 2676445	NM_002382.5(MAX):c.357C>A (p.Asp119Glu)	MAX (D110E +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823808	NM_002382.5(MAX):c.346C>T (p.Pro116Ser)	MAX (P53S +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	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 485710	NM_002382.5(MAX):c.332T>G (p.Leu111Arg)	MAX (L111R +4 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +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 654236	NM_002382.5(MAX):c.299G>A (p.Arg100His)	MAX (R100H +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 2170231	NM_002382.5(MAX):c.266A>C (p.Lys89Thr)	MAX (K53T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 1783580	NM_002382.5(MAX):c.196A>G (p.Lys66Glu)	MAX (K30E +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 1753907	NM_002382.5(MAX):c.64G>T (p.Ala22Ser)	LOC100506321, MAX (A13S +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Pheochromocytoma +2 more	GUncertain significance
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 1006095	NM_002382.5(MAX):c.47C>T (p.Pro16Leu)	MAX (P16L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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

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Items: 23