Related gene-specific medical variations for Gene (Select 9289) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362665	NM_201525.4(ADGRG1):c.781G>T (p.Glu261Ter)	ADGRG1 (E209* +4 more)	Single nucleotide variant (nonsense)	Bilateral frontoparietal polymicrogyria	GPathogenic
Select item 3243643	NC_000016.9:g.(?_57697344)_(57697494_?)del	ADGRG1	Deletion	not provided	GPathogenic
Select item 3068288	NM_201525.4(ADGRG1):c.352_452del (p.Ser118fs)	ADGRG1 (S118fs +2 more)	Deletion (frameshift variant +2 more)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1256159	NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr)	ADGRG1 (P112T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 994889	NM_201525.4(ADGRG1):c.1007A>G (p.Gln336Arg)	ADGRG1 (Q161R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978166	NM_201525.4(ADGRG1):c.707C>T (p.Thr236Met)	ADGRG1 (T184M +4 more)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 808050	NM_201525.4(ADGRG1):c.1738A>G (p.Met580Val)	ADGRG1 (M405V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 544681	NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)	ADGRG1 (A354fs +7 more)	Duplication (frameshift variant)	Macrogyria +7 more	GPathogenic
Select item 259866	NM_201525.4(ADGRG1):c.*48C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 5826	NM_201525.4(ADGRG1):c.1167+3G>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic