Related gene-specific medical variations for Gene (Select 2773) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247974	NC_000001.10:g.(?_110116339)_(110116679_?)del	GNAI3	Deletion	not provided	GUncertain significance
Select item 3100560	NM_006496.4(GNAI3):c.79G>A (p.Gly27Arg)	GNAI3, LOC129931108 (G27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034301	NM_006496.4(GNAI3):c.62G>A (p.Arg21His)	GNAI3, LOC129931108 (R21H)	Single nucleotide variant (missense variant)	GNAI3-related disorder	GLikely benign
Select item 3032535	NM_006496.4(GNAI3):c.72G>C (p.Arg24=)	GNAI3, LOC129931108	Single nucleotide variant (synonymous variant)	GNAI3-related disorder	GLikely benign
Select item 2663775	NM_006496.4(GNAI3):c.136A>G (p.Lys46Glu)	GNAI3 (K46E)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GLikely pathogenic
Select item 2432198	NM_006496.4(GNAI3):c.145A>G (p.Ile49Val)	GNAI3 (I49V)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 2264918	NM_006496.4(GNAI3):c.29A>G (p.Lys10Arg)	GNAI3, LOC129931108 (K10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321638	NM_006496.4(GNAI3):c.118+1G>C	GNAI3, LOC129931108	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1243082	NM_006496.4(GNAI3):c.105G>A (p.Lys35=)	GNAI3, LOC129931108	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 31636	NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg)	GNAI3, LOC129931108 (G40R)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GPathogenic