Related gene-specific medical variations for Gene (Select 121725015) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3117286	NM_001330559.2(L3MBTL4):c.1840G>A (p.Gly614Arg)	L3MBTL4, LOC121725015 (G623R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117285	NM_001330559.2(L3MBTL4):c.1525C>G (p.Leu509Val)	L3MBTL4, LOC121725015 (L509V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117284	NM_001330559.2(L3MBTL4):c.1469A>G (p.Gln490Arg)	L3MBTL4, LOC121725015 (Q490R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532705	NM_001330559.2(L3MBTL4):c.1819G>A (p.Ala607Thr)	L3MBTL4, LOC121725015 (A616T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489142	NM_001330559.2(L3MBTL4):c.1801C>T (p.Leu601Phe)	L3MBTL4, LOC121725015 (L601F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332646	NM_001330559.2(L3MBTL4):c.1534G>T (p.Gly512Cys)	L3MBTL4, LOC121725015 (G512C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301975	NM_001330559.2(L3MBTL4):c.1499C>T (p.Thr500Met)	L3MBTL4, LOC121725015 (T509M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244457	NM_001330559.2(L3MBTL4):c.1694C>T (p.Ala565Val)	L3MBTL4, LOC121725015 (A565V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance