RSPO1[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1283434	NM_001242908.2(RSPO1):c.*234AC[12]	RSPO1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1233166	NM_001242908.2(RSPO1):c.*234AC[13]	RSPO1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1276443	NM_001242908.2(RSPO1):c.*127T>C	RSPO1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1338212	NM_001242908.2(RSPO1):c.741GCA[5] (p.Gln251dup)	RSPO1	Microsatellite (inframe_insertion)	not specified +1 more	GBenign
Select item 707224	NM_001242908.2(RSPO1):c.719G>A (p.Arg240Gln)	RSPO1 (R177Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2320232	NM_001242908.2(RSPO1):c.672C>A (p.Asn224Lys)	RSPO1 (N161K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315583	NM_001242908.2(RSPO1):c.661G>A (p.Glu221Lys)	RSPO1 (E158K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399166	NM_001242908.2(RSPO1):c.659G>A (p.Arg220Gln)	RSPO1 (R220Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707475	NM_001242908.2(RSPO1):c.658C>T (p.Arg220Trp)	RSPO1 (R157W +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2065029	NM_001242908.2(RSPO1):c.639G>A (p.Arg213=)	RSPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1229324	NM_001242908.2(RSPO1):c.626-37T>A	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3156753	NM_001242908.2(RSPO1):c.620C>T (p.Pro207Leu)	RSPO1 (P207L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199335	NM_001242908.2(RSPO1):c.615G>A (p.Pro205=)	RSPO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2363281	NM_001242908.2(RSPO1):c.608G>A (p.Arg203Lys)	RSPO1 (R176K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156751	NM_001242908.2(RSPO1):c.585G>T (p.Glu195Asp)	RSPO1 (E168D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2826165	NM_001242908.2(RSPO1):c.585del (p.Thr196fs)	RSPO1 (T196fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 798169	NM_001242908.2(RSPO1):c.553G>T (p.Gly185Trp)	RSPO1 (G158W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2734137	NM_001242908.2(RSPO1):c.516C>T (p.Ser172=)	RSPO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2120253	NM_001242908.2(RSPO1):c.507G>A (p.Arg169=)	RSPO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188215	NM_001242908.2(RSPO1):c.505C>T (p.Arg169Trp)	RSPO1 (R142W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1616289	NM_001242908.2(RSPO1):c.484A>C (p.Lys162Gln)	RSPO1 (K135Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1507947	NM_001242908.2(RSPO1):c.481A>G (p.Lys161Glu)	RSPO1 (K134E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958414	NM_001242908.2(RSPO1):c.464C>T (p.Pro155Leu)	RSPO1 (P128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167160	NM_001242908.2(RSPO1):c.461C>T (p.Ser154Phe)	RSPO1 (S127F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2593434	NM_001242908.2(RSPO1):c.454G>A (p.Glu152Lys)	RSPO1 (E152K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1714037	NM_001242908.2(RSPO1):c.445G>A (p.Glu149Lys)	RSPO1 (E122K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405348	NM_001242908.2(RSPO1):c.432T>A (p.Ser144Arg)	RSPO1 (S144R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3315582	NM_001242908.2(RSPO1):c.418A>G (p.Met140Val)	RSPO1 (M140V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2046183	NM_001242908.2(RSPO1):c.417C>G (p.Thr139=)	RSPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535090	NM_001242908.2(RSPO1):c.394G>C (p.Gly132Arg)	RSPO1 (G132R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2862712	NM_001242908.2(RSPO1):c.391G>A (p.Glu131Lys)	RSPO1 (E104K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479491	NM_001242908.2(RSPO1):c.346G>A (p.Glu116Lys)	RSPO1 (E89K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358832	NM_001242908.2(RSPO1):c.339G>A (p.Lys113=)	RSPO1	Single nucleotide variant (synonymous variant)	RSPO1-related disorder	GLikely benign
Select item 2300079	NM_001242908.2(RSPO1):c.294G>C (p.Lys98Asn)	RSPO1 (K98N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294631	NM_001242908.2(RSPO1):c.287-60G>T	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267076	NM_001242908.2(RSPO1):c.286+34C>T	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289041	NM_001242908.2(RSPO1):c.286+33G>A	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2914487	NM_001242908.2(RSPO1):c.286+11G>T	RSPO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605	NM_001242908.2(RSPO1):c.286+1G>A	RSPO1	Single nucleotide variant (splice donor variant)	Palmoplantar hyperkeratosis and true hermaphroditism	GPathogenic
Select item 2585482	NM_001242908.2(RSPO1):c.254del (p.Asp85fs)	RSPO1 (D85fs +1 more)	Deletion (frameshift variant)	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	GLikely pathogenic
Select item 2742277	NM_001242908.2(RSPO1):c.252C>T (p.Phe84=)	RSPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632854	NM_001242908.2(RSPO1):c.231G>A (p.Pro77=)	RSPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306654	NM_001242908.2(RSPO1):c.199A>G (p.Asn67Asp)	RSPO1 (N40D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822887	NM_001242908.2(RSPO1):c.129C>G (p.Gly43=)	RSPO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156750	NM_001242908.2(RSPO1):c.128G>A (p.Gly43Asp)	RSPO1 (G16D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315580	NM_001242908.2(RSPO1):c.116C>T (p.Ala39Val)	RSPO1 (A39V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074213	NM_001242908.2(RSPO1):c.115G>C (p.Ala39Pro)	RSPO1 (A12P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437965	NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr)	RSPO1 (A12T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1603	NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9)	RSPO1 (S10fs +1 more)	Duplication (frameshift variant)	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	GPathogenic
Select item 1263232	NM_001242908.2(RSPO1):c.95-34C>G	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1604	NM_001242908.2(RSPO1):c.-288-413_94+1957del	RSPO1	Deletion (splice acceptor variant +2 more)	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	GPathogenic
Select item 1220668	NM_001242908.2(RSPO1):c.94+204T>C	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2597240	NM_001242908.2(RSPO1):c.92G>A (p.Arg31Gln)	RSPO1 (R31Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1953786	NM_001242908.2(RSPO1):c.60C>T (p.Ser20=)	RSPO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2102564	NM_001242908.2(RSPO1):c.45G>A (p.Thr15=)	RSPO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2775475	NM_001242908.2(RSPO1):c.4C>A (p.Arg2=)	RSPO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1233509	NM_001242908.2(RSPO1):c.-288-183G>A	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266883	NM_001242908.2(RSPO1):c.-288-339G>T	RSPO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	AIRIM, C1orf122 +8 more	Duplication	not provided	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395479	GRCh37/hg19 1p34.3(chr1:38005705-38077489)x3	DNALI1, GNL2 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 69