"GeneDx"[submitter] AND "SMAD9"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 1280875	NM_001127217.3(SMAD9):c.*298A>G	SMAD9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1271459	NM_001127217.3(SMAD9):c.*200A>C	SMAD9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1232767	NM_001127217.3(SMAD9):c.*47G>A	SMAD9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3373707	NM_001127217.3(SMAD9):c.1270G>A (p.Ala424Thr)	SMAD9 (A387T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 675286	NM_001127217.3(SMAD9):c.1261-76C>T	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207558	NM_001127217.3(SMAD9):c.1261-265G>C	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217608	NM_001127217.3(SMAD9):c.1261-267G>A	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199912	NM_001127217.3(SMAD9):c.1260+139C>T	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680403	NM_001127217.3(SMAD9):c.1260+17A>C	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2 +1 more	GBenign/Likely benign
Select item 213814	NM_001127217.3(SMAD9):c.1243C>T (p.Arg415Trp)	SMAD9 (R415W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2663053	NM_001127217.3(SMAD9):c.1091A>G (p.Tyr364Cys)	SMAD9 (Y327C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343324	NM_001127217.3(SMAD9):c.1024G>A (p.Gly342Arg)	SMAD9 (G305R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390833	NM_001127217.3(SMAD9):c.1004-6C>T	SMAD9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1204086	NM_001127217.3(SMAD9):c.1004-221G>A	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304389	NM_001127217.3(SMAD9):c.983C>T (p.Thr328Ile)	SMAD9 (T291I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452036	NM_001127217.3(SMAD9):c.907G>A (p.Asp303Asn)	SMAD9 (D303N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 56970	NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	SMAD9 (R294* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 2 +1 more	GPathogenic
Select item 213812	NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln)	SMAD9 (R263Q +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GConflicting classifications of pathogenicity
Select item 672486	NM_001127217.3(SMAD9):c.782-69G>T	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247779	NM_001127217.3(SMAD9):c.782-166A>G	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284020	NM_001127217.3(SMAD9):c.782-174G>A	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683862	NM_001127217.3(SMAD9):c.782-251A>G	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251321	NM_001127217.3(SMAD9):c.782-257A>G	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227077	NM_001127217.3(SMAD9):c.756T>C (p.His252=)	SMAD9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 311902	NM_001127217.3(SMAD9):c.743C>A (p.Thr248Lys)	SMAD9 (T248K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1253480	NM_001127217.3(SMAD9):c.670+275dup	SMAD9	Duplication (intron variant)	not provided	GBenign
Select item 1294161	NM_001127217.3(SMAD9):c.670+84C>A	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220503	NM_001127217.3(SMAD9):c.670+33G>A	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 213810	NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr)	SMAD9 (A163T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GLikely benign
Select item 1196305	NM_001127217.3(SMAD9):c.413-206A>G	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292255	NM_001127217.3(SMAD9):c.412+191AAAG[3]	SMAD9	Microsatellite (intron variant)	not provided	GBenign
Select item 1273509	NM_001127217.3(SMAD9):c.412+116AG[5]	SMAD9	Microsatellite (intron variant)	not provided	GBenign
Select item 548690	NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	SMAD9 (C68*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension associated with congenital heart disease +1 more	GPathogenic/Likely pathogenic
Select item 213811	NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro)	SMAD9 (L22P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +2 more	GConflicting classifications of pathogenicity
Select item 227954	NM_001127217.3(SMAD9):c.48C>T (p.Pro16=)	SMAD9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 227076	NM_001127217.3(SMAD9):c.12C>T (p.Thr4=)	SMAD9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 213809	NM_001127217.3(SMAD9):c.-37C>T	SMAD9	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1253223	NM_001127217.3(SMAD9):c.-186-36C>T	SMAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206537	NM_001127217.3(SMAD9):c.-186-157T>C	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 43