ClinVar for MedGen (Select 1812577) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066126	NM_002069.6(GNAI1):c.462-10T>G	GNAI1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3065594	NM_002069.6(GNAI1):c.170A>G (p.His57Arg)	GNAI1 (H57R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3064041	NM_002069.6(GNAI1):c.170A>C (p.His57Pro)	GNAI1 (H57P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Gnot provided
Select item 2691889	NM_002069.6(GNAI1):c.500A>G (p.Tyr167Cys)	GNAI1 (Y115C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2579143	NM_002069.6(GNAI1):c.364G>A (p.Glu122Lys)	GNAI1 (E122K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2578540	NM_002069.6(GNAI1):c.362C>T (p.Ala121Val)	GNAI1 (A121V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2498283	NM_002069.6(GNAI1):c.134G>A (p.Gly45Asp)	GNAI1 (G45D)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 2441826	NM_002069.6(GNAI1):c.808A>C (p.Lys270Gln)	GNAI1 (K218Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2432197	NM_002069.6(GNAI1):c.1059_1063del (p.Phe354fs)	GNAI1 (F302fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2431632	NM_002069.6(GNAI1):c.611A>G (p.Gln204Arg)	GNAI1 (Q152R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1712287	NM_002069.6(GNAI1):c.493C>G (p.Pro165Ala)	GNAI1 (P113A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686920	NM_002069.6(GNAI1):c.815A>G (p.Asp272Gly)	GNAI1 (D272G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1686919	NM_002069.6(GNAI1):c.809A>G (p.Lys270Arg)	GNAI1 (K270R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1686915	NM_002069.6(GNAI1):c.995T>A (p.Val332Glu)	GNAI1 (V280E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1685334	NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys)	GNAI1 (G40C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1339601	NM_002069.6(GNAI1):c.518A>T (p.Asp173Val)	GNAI1 (D121V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1203197	NM_002069.6(GNAI1):c.671G>A (p.Cys224Tyr)	GNAI1 (C172Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 873455	NM_002069.6(GNAI1):c.143C>A (p.Thr48Lys)	GNAI1 (T48K)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic