"PreventionGenetics, part of Exact Sciences"[submitter] AND "JAM3"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715028	NM_032801.5(JAM3):c.143-8C>T	JAM3	Single nucleotide variant (intron variant)	JAM3-related disorder +1 more	GBenign/Likely benign
Select item 2184385	NM_032801.5(JAM3):c.174G>A (p.Ser58=)	JAM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635655	NM_032801.5(JAM3):c.451C>A (p.Pro151Thr)	JAM3 (P100T +1 more)	Single nucleotide variant (missense variant)	JAM3-related disorder	GUncertain significance
Select item 709889	NM_032801.5(JAM3):c.613G>A (p.Val205Met)	JAM3 (V205M +1 more)	Single nucleotide variant (missense variant)	JAM3-related disorder +1 more	GLikely benign
Select item 2058358	NM_032801.5(JAM3):c.713-7T>C	JAM3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1581853	NM_032801.5(JAM3):c.876C>G (p.Asn292Lys)	JAM3 (N241K +1 more)	Single nucleotide variant (missense variant)	Porencephaly-microcephaly-bilateral congenital cataract syndrome +2 more	GConflicting classifications of pathogenicity
Select item 768501	NM_032801.5(JAM3):c.883C>T (p.Arg295Cys)	JAM3 (R295C +1 more)	Single nucleotide variant (missense variant)	JAM3-related disorder +1 more	GLikely benign
Select item 789802	NM_032801.5(JAM3):c.921G>A (p.Ser307=)	JAM3	Single nucleotide variant (synonymous variant)	JAM3-related disorder +1 more	GBenign/Likely benign
Select item 3051388	NM_032801.5(JAM3):c.*5C>T	JAM3	Single nucleotide variant (3 prime UTR variant)	JAM3-related disorder	GLikely benign