"Genome-Nilou Lab"[submitter] AND "ADGRG1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1195943	NM_201525.4(ADGRG1):c.191C>T (p.Ala64Val)	ADGRG1 (A64V +1 more)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria +1 more	GUncertain significance
Select item 1184694	NM_201525.4(ADGRG1):c.621-184A>C	ADGRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1195942	NM_201525.4(ADGRG1):c.703G>A (p.Ala235Thr)	ADGRG1 (A183T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 137493	NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg)	ADGRG1 (S281R +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria +2 more	GBenign/Likely benign
Select item 158640	NM_201525.4(ADGRG1):c.918A>C (p.Gln306His)	ADGRG1 (Q306H +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria +2 more	GBenign
Select item 158641	NM_201525.4(ADGRG1):c.996T>C (p.Thr332=)	ADGRG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1184695	NM_201525.4(ADGRG1):c.1167+77C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 158615	NM_201525.4(ADGRG1):c.1168-20C>A	ADGRG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 681781	NM_005682.7(ADGRG1):c.1287-60G>A	ADGRG1	Single nucleotide variant	not provided +1 more	GBenign
Select item 158623	NM_201525.4(ADGRG1):c.1665-41C>T	ADGRG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 158624	NM_201525.4(ADGRG1):c.1665-5C>T	ADGRG1	Single nucleotide variant (intron variant)	Bilateral frontoparietal polymicrogyria +2 more	GBenign
Select item 259865	NM_201525.4(ADGRG1):c.*38T>G	ADGRG1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 884997	NM_201525.4(ADGRG1):c.*74C>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GBenign