Related gene-specific medical variations for Gene (Select 8785) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593288	NM_014276.4(RBPJL):c.100G>A (p.Asp34Asn)	MATN4, RBPJL (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546059	NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)	MATN4, RBPJL (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312028	NM_014276.4(RBPJL):c.116C>G (p.Pro39Arg)	MATN4, RBPJL (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342534	NM_001393530.1(MATN4):c.1688-7C>A	LOC130065955, MATN4	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly sequence	GUncertain significance
Select item 444107	NM_014276.4(RBPJL):c.23-481C>G	RBPJL, MATN4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign

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