SUSD3[gene] - ClinVar

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

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 3172285	NM_145006.4(SUSD3):c.79A>T (p.Asn27Tyr)	SUSD3 (N27Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172286	NM_145006.4(SUSD3):c.85A>T (p.Thr29Ser)	SUSD3 (T29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172275	NM_145006.4(SUSD3):c.116C>T (p.Pro39Leu)	SUSD3 (P39L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546976	NM_145006.4(SUSD3):c.139C>T (p.Arg47Cys)	SUSD3 (R34C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411985	NM_145006.4(SUSD3):c.140G>A (p.Arg47His)	SUSD3 (R47H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172276	NM_145006.4(SUSD3):c.146A>G (p.Asn49Ser)	SUSD3 (N36S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349128	NM_145006.4(SUSD3):c.178C>T (p.Arg60Cys)	SUSD3 (R47C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172277	NM_145006.4(SUSD3):c.244G>A (p.Ala82Thr)	SUSD3 (A82T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172278	NM_145006.4(SUSD3):c.316G>A (p.Val106Met)	SUSD3 (V106M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345306	NM_145006.4(SUSD3):c.322G>A (p.Ala108Thr)	SUSD3 (A45T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477354	NM_145006.4(SUSD3):c.339T>G (p.Cys113Trp)	SUSD3 (C50W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276011	NM_145006.4(SUSD3):c.413G>A (p.Arg138Gln)	SUSD3 (R138Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388210	NM_145006.4(SUSD3):c.470C>T (p.Thr157Met)	SUSD3 (T157M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530224	NM_145006.4(SUSD3):c.472G>A (p.Val158Met)	SUSD3 (V95M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466428	NM_145006.4(SUSD3):c.481G>A (p.Ala161Thr)	SUSD3 (A148T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237302	NM_145006.4(SUSD3):c.490G>C (p.Gly164Arg)	SUSD3 (G151R +2 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3172279	NM_145006.4(SUSD3):c.506A>G (p.Asn169Ser)	SUSD3 (N106S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478610	NM_145006.4(SUSD3):c.514G>A (p.Val172Met)	SUSD3 (V109M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172280	NM_145006.4(SUSD3):c.577A>T (p.Ser193Cys)	SUSD3 (S149C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321015	NM_145006.4(SUSD3):c.589A>C (p.Ser197Arg)	SUSD3 (S134R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172281	NM_145006.4(SUSD3):c.598C>T (p.Arg200Cys)	SUSD3 (R156C +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172282	NM_145006.4(SUSD3):c.645T>G (p.Ser215Arg)	SUSD3 (S215R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493596	NM_145006.4(SUSD3):c.665A>C (p.Gln222Pro)	SUSD3 (Q115P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172283	NM_145006.4(SUSD3):c.725C>T (p.Ala242Val)	SUSD3 (A242V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172284	NM_145006.4(SUSD3):c.733A>G (p.Met245Val)	SUSD3 (M232V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350616	NM_145006.4(SUSD3):c.744G>T (p.Gln248His)	SUSD3 (Q204H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807869	GRCh37/hg19 9q22.31(chr9:95649997-95850428)x3	FGD3, SUSD3	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	MSANTD3, MSANTD3-TMEFF1 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687608	GRCh37/hg19 9q22.31(chr9:95258118-95888821)x1	BICD2, CARD19 +7 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 563667	GRCh37/hg19 9q22.31(chr9:94907633-96493970)x1	ASPN, BICD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59