Related gene-specific medical variations for Gene (Select 4093) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696748	NM_001127217.3(SMAD9):c.281G>C (p.Arg94Pro)	SMAD9 (R94P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1330824	NM_001127217.3(SMAD9):c.810_811dup (p.Gln271fs)	SMAD9 (Q234fs +1 more)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 2	GLikely pathogenic
Select item 1330293	NM_001127217.3(SMAD9):c.136AAG[5] (p.Lys49dup)	SMAD9	Microsatellite (inframe_insertion)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 1325103	NM_001127217.3(SMAD9):c.564_567dup (p.Pro190fs)	SMAD9 (P190fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 2	GLikely pathogenic
Select item 993610	NM_001127217.3(SMAD9):c.1016A>G (p.Tyr339Cys)	SMAD9 (Y302C +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 811870	NM_001127217.3(SMAD9):c.1045T>G (p.Cys349Gly)	SMAD9 (C312G +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 311920	NM_001127217.3(SMAD9):c.-285CGC[7]	LOC130009576, SMAD9	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 311918	NM_001127217.3(SMAD9):c.-285CGC[10]	LOC130009576, SMAD9	Microsatellite (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 311917	NM_001127217.3(SMAD9):c.-261_-256del	LOC130009576, SMAD9	Deletion (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GLikely benign
Select item 311916	NM_001127217.3(SMAD9):c.-256_-255insAGCCGC	LOC130009576, SMAD9	Insertion (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311915	NM_001127217.3(SMAD9):c.-256_-255insCGC	LOC130009576, SMAD9	Insertion (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311914	NM_001127217.3(SMAD9):c.-264_-255delinsTGCA	LOC130009576, SMAD9	Indel (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311913	NM_001127217.3(SMAD9):c.-258TGC[1]	LOC130009576, SMAD9	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 311911	NM_001127217.3(SMAD9):c.-235CCG[6]	LOC130009576, SMAD9	Microsatellite (5 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance