ClinVar for MedGen (Select 903881) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233964	NM_198569.3(ADGRG6):c.1424+2T>A	ADGRG6	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 9	GLikely pathogenic
Select item 3064408	NM_198569.3(ADGRG6):c.672_681del (p.Ser225fs)	ADGRG6 (S225fs)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 9	GLikely pathogenic
Select item 2438877	NM_198569.3(ADGRG6):c.2180C>G (p.Pro727Arg)	ADGRG6 (P699R +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 9	GUncertain significance
Select item 1342704	NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)	ADGRG6 (L712* +1 more)	Single nucleotide variant (nonsense)	Lethal congenital contracture syndrome 9	GPathogenic
Select item 1029348	NM_198569.3(ADGRG6):c.2470G>C (p.Ala824Pro)	ADGRG6 (A824P +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 9	GUncertain significance
Select item 802279	NM_198569.3(ADGRG6):c.3380A>G (p.Gln1127Arg)	ADGRG6 (Q1127R +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 9	GBenign
Select item 802278	NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=)	ADGRG6	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 9	GBenign
Select item 791451	NM_198569.3(ADGRG6):c.354A>G (p.Leu118=)	ADGRG6	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 9 +1 more	GBenign/Likely benign
Select item 192349	NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	ADGRG6 (V769E)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita	GPathogenic
Select item 192348	NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)	ADGRG6 (Q688fs +1 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita	GPathogenic
Select item 192347	NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	ADGRG6 (R7*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita	GPathogenic