RSPO3[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	LOC129997100, LOC129997101 +61 more	Copy number loss	See cases	GUncertain significance
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 2569510	NM_032784.5(RSPO3):c.25C>T (p.Leu9Phe)	RSPO3 (L9F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2610105	NM_032784.5(RSPO3):c.245G>A (p.Ser82Asn)	RSPO3 (S82N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513552	NM_032784.5(RSPO3):c.547C>T (p.Pro183Ser)	RSPO3 (P183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339064	NM_032784.5(RSPO3):c.635G>C (p.Gly212Ala)	RSPO3 (G212A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487373	NM_032784.5(RSPO3):c.689A>C (p.Glu230Ala)	RSPO3 (E230A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232144	NM_032784.5(RSPO3):c.770G>A (p.Arg257Gln)	RSPO3 (R257Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1527286	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)	C6orf58, CENPW +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 980786	GRCh37/hg19 6q22.33(chr6:127289665-127570560)x1	RSPO3	Copy number loss	not provided	GUncertain significance
Select item 563234	GRCh37/hg19 6q22.33(chr6:127499597-127593564)x1	RSPO3, RNF146	Copy number loss	not provided	GLikely benign
Select item 563233	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)x1	RSPO3, ECHDC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 493588	GRCh37/hg19 6q22.33(chr6:127451298-127807918)x1	RNF146, RSPO3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 442326	GRCh37/hg19 6q22.33(chr6:127303904-128482021)x1	C6orf58, ECHDC1 +6 more	Copy number loss	See cases	GLikely benign
Select item 393951	GRCh37/hg19 6q22.32-22.33(chr6:126661514-127469910)x3	CENPW, RSPO3	Copy number gain	See cases	GLikely benign

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Items: 32