ClinVar for MedGen (Select 1621102) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254881	NM_004218.4(RAB11B):c.583G>T (p.Val195Leu)	RAB11B (V195L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 3236551	NM_004218.4(RAB11B):c.43G>A (p.Val15Met)	RAB11B (V15M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 3235921	NM_004218.4(RAB11B):c.85T>C (p.Ser29Pro)	RAB11B (S29P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GLikely pathogenic
Select item 2691003	NM_004218.4(RAB11B):c.274G>A (p.Asp92Asn)	RAB11B (D92N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 1904805	NM_004218.4(RAB11B):c.511+5_511+10del	RAB11B	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805161	NM_004218.4(RAB11B):c.491C>G (p.Ala164Gly)	RAB11B (A164G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1683617	NM_004218.4(RAB11B):c.652C>A (p.Leu218Met)	RAB11B (L218M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 1379983	NM_004218.4(RAB11B):c.418C>T (p.Arg140Cys)	RAB11B (R140C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter +1 more	GUncertain significance
Select item 1341768	NM_004218.4(RAB11B):c.236+414C>T	RAB11B	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	GUncertain significance
Select item 1028706	NM_004218.4(RAB11B):c.583G>A (p.Val195Met)	RAB11B (V195M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 768963	NM_004218.4(RAB11B):c.357C>A (p.Ile119=)	RAB11B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 453255	NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr)	RAB11B (A68T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter +1 more	GPathogenic/Likely pathogenic
Select item 453254	NM_004218.4(RAB11B):c.64G>A (p.Val22Met)	RAB11B (V22M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter +1 more	GPathogenic/Likely pathogenic