SDC3[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 154396	GRCh38/hg38 1p35.3-35.2(chr1:29274476-31126076)x1	LAPTM5, LINC01648 +64 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic
Select item 154651	GRCh38/hg38 1p35.2(chr1:30811959-31402772)x1	FABP3, LINC01778 +28 more	Copy number loss	See cases	GUncertain significance
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 1287484	NM_014654.4(SDC3):c.*273A>T	SDC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1289937	NM_014654.4(SDC3):c.*166C>T	SDC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2474736	NM_014654.4(SDC3):c.1316A>G (p.Glu439Gly)	SDC3 (E439G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334719	NM_014654.4(SDC3):c.1297_1299del (p.Lys433del)	SDC3 (K433del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2268029	NM_014654.4(SDC3):c.1280C>T (p.Ala427Val)	SDC3 (A427V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593355	NM_014654.4(SDC3):c.1100C>T (p.Ser367Leu)	SDC3 (S367L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265454	NM_014654.4(SDC3):c.1067C>T (p.Pro356Leu)	SDC3 (P356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386793	NM_014654.4(SDC3):c.1061C>T (p.Ala354Val)	SDC3 (A354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322766	NM_014654.4(SDC3):c.1019C>A (p.Ala340Glu)	SDC3 (A340E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12755	NM_014654.4(SDC3):c.986C>T (p.Thr329Ile)	SDC3 (T329I)	Single nucleotide variant (missense variant)	Obesity, association with	Gassociation
Select item 2404766	NM_014654.4(SDC3):c.968A>C (p.Glu323Ala)	SDC3 (E323A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 760302	NM_014654.4(SDC3):c.963A>G (p.Glu321=)	SDC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737823	NM_014654.4(SDC3):c.871-4G>T	SDC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2227388	NM_014654.4(SDC3):c.862G>A (p.Val288Met)	SDC3 (V288M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208181	NM_014654.4(SDC3):c.785C>T (p.Pro262Leu)	SDC3 (P262L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462778	NM_014654.4(SDC3):c.763C>T (p.Arg255Trp)	SDC3 (R255W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541023	NM_014654.4(SDC3):c.691T>G (p.Ser231Ala)	SDC3 (S231A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411583	NM_014654.4(SDC3):c.686C>T (p.Ala229Val)	SDC3 (A229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2365683	NM_014654.4(SDC3):c.680C>A (p.Pro227His)	SDC3 (P227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615706	NM_014654.4(SDC3):c.667C>T (p.Arg223Trp)	SDC3 (R223W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12756	NM_014654.4(SDC3):c.622G>A (p.Val208Ile)	SDC3 (V208I)	Single nucleotide variant (missense variant)	Obesity, association with	Gassociation
Select item 2292513	NM_014654.4(SDC3):c.598A>G (p.Thr200Ala)	SDC3 (T200A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722531	NM_014654.4(SDC3):c.592G>A (p.Ala198Thr)	SDC3 (A198T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2399198	NM_014654.4(SDC3):c.566G>A (p.Ser189Asn)	SDC3 (S189N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216417	NM_014654.4(SDC3):c.556G>A (p.Ala186Thr)	SDC3 (A186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289417	NM_014654.4(SDC3):c.462G>C (p.Gln154His)	SDC3 (Q154H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783931	NM_014654.4(SDC3):c.286G>A (p.Ala96Thr)	SDC3 (A96T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771688	NM_014654.4(SDC3):c.216T>C (p.Asp72=)	SDC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217847	NM_014654.4(SDC3):c.155G>A (p.Ser52Asn)	SDC3 (S52N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378360	NM_014654.4(SDC3):c.85G>A (p.Gly29Arg)	SDC3 (G29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442911	GRCh37/hg19 1p35.2(chr1:30242068-31367845)x4	LAPTM5, MATN1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 45