ClinVar for Gene (Select 84870) - ClinVar

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

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315586	NM_032784.5(RSPO3):c.229C>G (p.Leu77Val)	RSPO3 (L77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156760	NM_032784.5(RSPO3):c.794C>T (p.Ser265Leu)	RSPO3 (S265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156759	NM_032784.5(RSPO3):c.754C>G (p.Gln252Glu)	RSPO3 (Q252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156758	NM_032784.5(RSPO3):c.46A>G (p.Met16Val)	RSPO3 (M16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156757	NM_032784.5(RSPO3):c.103C>A (p.Pro35Thr)	RSPO3 (P35T)	Single nucleotide variant (missense variant)	not specified	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 2610105	NM_032784.5(RSPO3):c.245G>A (p.Ser82Asn)	RSPO3 (S82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2569510	NM_032784.5(RSPO3):c.25C>T (p.Leu9Phe)	RSPO3 (L9F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513552	NM_032784.5(RSPO3):c.547C>T (p.Pro183Ser)	RSPO3 (P183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487373	NM_032784.5(RSPO3):c.689A>C (p.Glu230Ala)	RSPO3 (E230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339064	NM_032784.5(RSPO3):c.635G>C (p.Gly212Ala)	RSPO3 (G212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232144	NM_032784.5(RSPO3):c.770G>A (p.Arg257Gln)	RSPO3 (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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, PTPRK +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
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 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +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 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37