C5193102[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433643	NM_001318852.2(MAPK8IP3):c.1166C>T (p.Thr389Met)	MAPK8IP3 (T388M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433637	NM_001318852.2(MAPK8IP3):c.1207G>A (p.Asp403Asn)	MAPK8IP3 (D402N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433642	NM_001318852.2(MAPK8IP3):c.1762C>T (p.Pro588Ser)	MAPK8IP3 (P581S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433636	NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)	MAPK8IP3 (T747M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2433641	NM_001318852.2(MAPK8IP3):c.2647G>A (p.Ala883Thr)	MAPK8IP3 (A876T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2689400	NM_001318852.2(MAPK8IP3):c.2744T>C (p.Leu915Ser)	MAPK8IP3 (L908S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433635	NM_001318852.2(MAPK8IP3):c.3394G>A (p.Val1132Ile)	MAPK8IP3 (V1125I +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433638	NM_001318852.2(MAPK8IP3):c.3493G>A (p.Gly1165Arg)	MAPK8IP3 (G1158R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433640	NM_001318852.2(MAPK8IP3):c.3598C>T (p.Arg1200Cys)	MAPK8IP3 (R1193C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +2 more	GConflicting classifications of pathogenicity
Select item 2689401	NM_001318852.2(MAPK8IP3):c.3712G>A (p.Asp1238Asn)	MAPK8IP3 (D1231N +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance
Select item 2433639	NM_001318852.2(MAPK8IP3):c.3826G>A (p.Glu1276Lys)	MAPK8IP3 (E1269K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance