Related gene-specific medical variations for Gene (Select 8754) - ClinVar

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

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242299	GRCh37/hg19 8p11.22(chr8:38933032-38935086)x1	ADAM9	Copy number loss	not provided	GLikely pathogenic
Select item 2880457	NM_003816.3(ADAM9):c.27G>A (p.Ser9=)	ADAM9, LOC130000261	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2574658	NM_003816.3:c.333+2_1303del	ADAM9	Deletion	Cone-rod dystrophy 9	GUncertain significance
Select item 2486380	NM_003816.3(ADAM9):c.61G>C (p.Gly21Arg)	ADAM9, LOC130000261 (G21R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270731	NM_003816.3(ADAM9):c.71G>A (p.Gly24Asp)	ADAM9, LOC130000261 (G24D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1923978	NM_003816.3(ADAM9):c.44G>C (p.Arg15Pro)	ADAM9, LOC130000261 (R15P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804635	NM_003816.3(ADAM9):c.17_18del (p.Arg6fs)	LOC130000261, ADAM9 (R6fs)	Microsatellite (frameshift variant +1 more)	Cone-rod dystrophy	GPathogenic
Select item 1636991	NM_003816.3(ADAM9):c.15G>A (p.Ala5=)	ADAM9, LOC130000261	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1554783	NM_003816.3(ADAM9):c.81C>T (p.Leu27=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1410733	NM_003816.3(ADAM9):c.92G>A (p.Arg31Gln)	ADAM9, LOC130000261 (R31Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1393622	NM_003816.3(ADAM9):c.76G>C (p.Val26Leu)	ADAM9, LOC130000261 (V26L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1356684	NM_003816.3(ADAM9):c.28G>T (p.Gly10Trp)	ADAM9, LOC130000261 (G10W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1184447	NM_003816.3(ADAM9):c.1588_1591+10del	ADAM9	Deletion (splice donor variant)	Cone-rod dystrophy 9	GPathogenic
Select item 1160569	NM_003816.3(ADAM9):c.45G>T (p.Arg15=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1047188	NM_003816.3(ADAM9):c.97+4G>T	ADAM9, LOC130000261	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1044936	NM_003816.3(ADAM9):c.96A>G (p.Pro32=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1019927	NM_003816.3(ADAM9):c.22C>T (p.Pro8Ser)	ADAM9, LOC130000261 (P8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1007380	NM_003816.3(ADAM9):c.29G>A (p.Gly10Glu)	ADAM9, LOC130000261 (G10E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1006181	NM_003816.3(ADAM9):c.5G>A (p.Gly2Glu)	LOC130000261, ADAM9 (G2E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 999527	NM_003816.3(ADAM9):c.8C>G (p.Ser3Cys)	ADAM9, LOC130000261 (S3C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 909350	NM_003816.3(ADAM9):c.-18C>G	ADAM9, LOC130000261	Single nucleotide variant (non-coding transcript variant +1 more)	Cone-rod dystrophy 9	GUncertain significance
Select item 860836	NM_003816.3(ADAM9):c.56T>G (p.Leu19Trp)	ADAM9, LOC130000261 (L19W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 259176	NM_003816.3(ADAM9):c.78C>A (p.Val26=)	ADAM9, LOC130000261	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 23