"Ambry Genetics"[submitter] AND "LOC130055850"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2568117	NM_002382.5(MAX):c.33_36+2dup	LOC130055850, MAX	Duplication (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1384702	NM_002382.5(MAX):c.36C>T (p.Asp12=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 824092	NM_002382.5(MAX):c.36C>G (p.Asp12Glu)	LOC130055850, MAX (D12E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2615603	NM_002382.5(MAX):c.30G>A (p.Glu10=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222155	NM_002382.5(MAX):c.28G>A (p.Glu10Lys)	LOC130055850, MAX (E10K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	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
Select item 1133867	NM_002382.5(MAX):c.24G>A (p.Glu8=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1790697	NM_002382.5(MAX):c.23A>C (p.Glu8Ala)	LOC130055850, MAX (E8A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 821060	NM_002382.5(MAX):c.22G>T (p.Glu8Ter)	LOC130055850, MAX (E8*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3293485	NM_002382.5(MAX):c.21C>T (p.Ile7=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 463803	NM_002382.5(MAX):c.21C>G (p.Ile7Met)	LOC130055850, MAX (I7M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412782	NM_002382.5(MAX):c.21C>A (p.Ile7=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 2568119	NM_002382.5(MAX):c.19A>C (p.Ile7Leu)	LOC130055850, MAX (I7L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784150	NM_002382.5(MAX):c.19A>T (p.Ile7Phe)	LOC130055850, MAX (I7F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1096304	NM_002382.5(MAX):c.18C>T (p.Asp6=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
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 765281	NM_002382.5(MAX):c.12C>T (p.Asn4=)	LOC130055850, MAX	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 1761605	NM_002382.5(MAX):c.7G>C (p.Asp3His)	LOC130055850, MAX (D3H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	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