Related gene-specific medical variations for Gene (Select 2770) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2920675	NM_002069.6(GNAI1):c.1A>G (p.Met1Val)	GNAI1 (M1V)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	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 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 1701772	NM_002069.6(GNAI1):c.807C>G (p.Asn269Lys)	GNAI1 (N217K +1 more)	Single nucleotide variant (missense variant)	GNAI1 associated Neurodevelopmental disorder	GUncertain significance
Select item 987048	NM_002069.6(GNAI1):c.155A>C (p.Gln52Pro)	GNAI1 (Q52P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 814999	GRCh37/hg19 7q21.11(chr7:79445069-79802048)x3	GNAI1	Copy number gain	not provided	GUncertain significance
Select item 814998	GRCh37/hg19 7q21.11(chr7:79398907-79832746)x3	GNAI1	Copy number gain	not provided	GUncertain significance