C1847352[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158629	NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)	ADGRG1 (R96* +2 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2627974	NM_201525.4(ADGRG1):c.429G>A (p.Trp143Ter)	ADGRG1 (W143* +2 more)	Single nucleotide variant (nonsense +2 more)	Bilateral frontoparietal polymicrogyria	GLikely pathogenic
Select item 5828	NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs)	ADGRG1 (Q247fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1878521	NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)	ADGRG1 (Q163fs +4 more)	Duplication (frameshift variant)	Bilateral frontoparietal polymicrogyria +1 more	GLikely pathogenic
Select item 2585034	NM_201525.4(ADGRG1):c.1505T>C (p.Phe502Ser)	ADGRG1 (F338S +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 2585027	NM_201525.4(ADGRG1):c.1574T>G (p.Val525Gly)	ADGRG1 (V350G +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 5831	NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)	ADGRG1 (R565W +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2585124	NM_201525.4(ADGRG1):c.1716_1722dup (p.Val575fs)	ADGRG1 (V574fs +7 more)	Duplication (frameshift variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance