Related gene-specific medical variations for Gene (Select 55683) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287360	NM_001115016.3(KANSL3):c.1496G>A (p.Arg499His)	KANSL3, LOC126806274 (R271H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3252057	NM_001115016.3(KANSL3):c.1409G>T (p.Gly470Val)	KANSL3, LOC126806274 (G242V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3112680	NM_001115016.3(KANSL3):c.1628C>T (p.Thr543Ile)	KANSL3, LOC126806274 (T315I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112679	NM_001115016.3(KANSL3):c.1549G>C (p.Ala517Pro)	KANSL3, LOC126806274 (A430P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546271	NM_001115016.3(KANSL3):c.1420C>T (p.Arg474Cys)	KANSL3, LOC126806274 (R246C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540055	NM_001115016.3(KANSL3):c.1394T>C (p.Val465Ala)	KANSL3, LOC126806274 (V259A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489807	NM_001115016.3(KANSL3):c.1495C>T (p.Arg499Cys)	KANSL3, LOC126806274 (R293C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391028	NM_001115016.3(KANSL3):c.1718T>C (p.Val573Ala)	KANSL3, LOC126806274 (V345A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351115	NM_001115016.3(KANSL3):c.1483C>T (p.Arg495Cys)	KANSL3, LOC126806274 (R267C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242995	NM_001115016.3(KANSL3):c.1386T>G (p.Asp462Glu)	KANSL3, LOC126806274 (D234E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance