SMAD9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 311815	NM_001127217.3(SMAD9):c.*3590del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311817	NM_001127217.3(SMAD9):c.*3562CA[5]	SMAD9	Microsatellite (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GBenign
Select item 311816	NM_001127217.3(SMAD9):c.*3562CA[6]	SMAD9	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 311818	NM_001127217.3(SMAD9):c.3560_3565del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311819	NM_001127217.3(SMAD9):c.3558_3563del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 311822	NM_001127217.3(SMAD9):c.*3542TA[11]	SMAD9	Microsatellite (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311824	NM_001127217.3(SMAD9):c.*3542TA[8]	SMAD9	Microsatellite (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311823	NM_001127217.3(SMAD9):c.*3542TA[9]	SMAD9	Microsatellite (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 311846	NM_001127217.3(SMAD9):c.*2202del	SMAD9	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 311845	NM_001127217.3(SMAD9):c.2201_2202del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311847	NM_001127217.3(SMAD9):c.2179_2181del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311848	NM_001127217.3(SMAD9):c.2179_2180del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311849	NM_001127217.3(SMAD9):c.*2179del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311874	NM_001127217.3(SMAD9):c.*667AG[1]	SMAD9	Microsatellite (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311875	NM_001127217.3(SMAD9):c.666_667del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311882	NM_001127217.3(SMAD9):c.448_452del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 311887	NM_001127217.3(SMAD9):c.298_301del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
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 311891	NM_001127217.3(SMAD9):c.94_95del	SMAD9	Deletion (3 prime UTR variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1232767	NM_001127217.3(SMAD9):c.*47G>A	SMAD9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2959867	NM_001127217.3(SMAD9):c.1335A>C (p.Pro445=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2633811	NM_001127217.3(SMAD9):c.1282C>T (p.Arg428Cys)	SMAD9 (R391C +1 more)	Single nucleotide variant (missense variant)	SMAD9-related disorder	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)	not provided +1 more	GBenign/Likely benign
Select item 1402838	NM_001127217.3(SMAD9):c.1260G>C (p.Lys420Asn)	SMAD9 (K383N +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
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 2387675	NM_001127217.3(SMAD9):c.1213G>A (p.Val405Met)	SMAD9 (V368M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1964526	NM_001127217.3(SMAD9):c.1212C>T (p.Val404=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2493470	NM_001127217.3(SMAD9):c.1201G>A (p.Gly401Ser)	SMAD9 (G401S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709994	NM_001127217.3(SMAD9):c.1197_1198insA (p.His400fs)	SMAD9 (H363fs +1 more)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2535976	NM_001127217.3(SMAD9):c.1192G>T (p.Val398Phe)	SMAD9 (V361F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748151	NM_001127217.3(SMAD9):c.1191A>G (p.Ser397=)	SMAD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297487	NM_001127217.3(SMAD9):c.1161C>A (p.Asn387Lys)	SMAD9 (N350K +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 548691	NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp)	SMAD9 (N349D +1 more)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease +1 more	GUncertain significance
Select item 2722368	NM_001127217.3(SMAD9):c.1140C>T (p.Cys380=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2982461	NM_001127217.3(SMAD9):c.1134C>T (p.Ser378=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 311894	NM_001127217.3(SMAD9):c.1117G>A (p.Val373Ile)	SMAD9 (V373I +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 750048	NM_001127217.3(SMAD9):c.1098C>T (p.His366=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 3337598	NM_001127217.3(SMAD9):c.1092dup (p.Gln365fs)	SMAD9 (Q328fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 3320659	NM_001127217.3(SMAD9):c.1089C>A (p.Asn363Lys)	SMAD9 (N363K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369530	NM_001127217.3(SMAD9):c.1088A>G (p.Asn363Ser)	SMAD9 (N363S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519168	NM_001127217.3(SMAD9):c.1073A>G (p.Gln358Arg)	SMAD9 (Q358R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870725	NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=)	SMAD9	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 311897	NM_001127217.3(SMAD9):c.1035G>A (p.Val345=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2 +1 more	GBenign/Likely benign
Select item 2735658	NM_001127217.3(SMAD9):c.1020C>T (p.Tyr340=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GBenign
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 311898	NM_001127217.3(SMAD9):c.1011C>G (p.His337Gln)	SMAD9 (H337Q +1 more)	Single nucleotide variant (missense variant)	SMAD9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 390833	NM_001127217.3(SMAD9):c.1004-6C>T	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2 +1 more	GLikely benign
Select item 1645667	NM_001127217.3(SMAD9):c.1004-8G>A	SMAD9	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 2	GBenign/Likely benign
Select item 1204086	NM_001127217.3(SMAD9):c.1004-221G>A	SMAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505694	NM_001127217.3(SMAD9):c.995_996del (p.Ile332fs)	SMAD9 (I295fs +1 more)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 2761750	NM_001127217.3(SMAD9):c.995T>C (p.Ile332Thr)	SMAD9 (I332T +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
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 2695366	NM_001127217.3(SMAD9):c.971C>T (p.Thr324Met)	SMAD9 (T324M +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 2732417	NM_001127217.3(SMAD9):c.966C>T (p.Asn322=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 3008833	NM_001127217.3(SMAD9):c.957A>G (p.Val319=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2867002	NM_001127217.3(SMAD9):c.951T>G (p.Ser317=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 1027683	NM_001127217.3(SMAD9):c.950C>G (p.Ser317Cys)	SMAD9 (S280C +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2	GUncertain significance
Select item 3166259	NM_001127217.3(SMAD9):c.946C>G (p.Leu316Val)	SMAD9 (L316V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069523	NM_001127217.3(SMAD9):c.920A>G (p.Asn307Ser)	SMAD9 (N270S +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 2 +1 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GPathogenic
Select item 2719769	NM_001127217.3(SMAD9):c.879C>T (p.Ser293=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
Select item 2892767	NM_001127217.3(SMAD9):c.850C>T (p.Arg284Ter)	SMAD9 (R247* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 2	GPathogenic
Select item 311901	NM_001127217.3(SMAD9):c.828C>T (p.Val276=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2 +1 more	GBenign/Likely benign
Select item 2723481	NM_001127217.3(SMAD9):c.825G>A (p.Ser275=)	SMAD9	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 2	GLikely benign
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 2485263	NM_001127217.3(SMAD9):c.802G>A (p.Glu268Lys)	SMAD9 (E231K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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