ClinVar for Gene (Select 9806) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322329	NM_001244950.2(SPOCK2):c.962A>G (p.Gln321Arg)	SPOCK2 (Q321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322328	NM_001244950.2(SPOCK2):c.429G>C (p.Gln143His)	SPOCK2 (Q143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169293	NM_001244950.2(SPOCK2):c.976G>T (p.Ala326Ser)	SPOCK2 (A326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169292	NM_001244950.2(SPOCK2):c.955C>T (p.Arg319Cys)	SPOCK2 (R319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169291	NM_001244950.2(SPOCK2):c.814G>A (p.Ala272Thr)	SPOCK2 (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169289	NM_001244950.2(SPOCK2):c.767A>G (p.Lys256Arg)	SPOCK2 (K256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169288	NM_001244950.2(SPOCK2):c.701C>G (p.Pro234Arg)	SPOCK2 (P234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169287	NM_001244950.2(SPOCK2):c.676G>C (p.Gly226Arg)	SPOCK2 (G226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169286	NM_001244950.2(SPOCK2):c.493G>A (p.Ala165Thr)	SPOCK2 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169285	NM_001244950.2(SPOCK2):c.443G>C (p.Cys148Ser)	SPOCK2 (C148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169284	NM_001244950.2(SPOCK2):c.421A>G (p.Met141Val)	SPOCK2 (M141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169283	NM_001244950.2(SPOCK2):c.206A>G (p.Tyr69Cys)	SPOCK2 (Y69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169281	NM_001244950.2(SPOCK2):c.1258G>A (p.Gly420Arg)	SPOCK2 (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169280	NM_001244950.2(SPOCK2):c.1184A>G (p.Glu395Gly)	SPOCK2 (E395G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169279	NM_001244950.2(SPOCK2):c.1123G>A (p.Asp375Asn)	SPOCK2 (D375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169278	NM_001244950.2(SPOCK2):c.1109C>T (p.Thr370Met)	SPOCK2 (T370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685381	GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1	ANAPC16, ASCC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640575	NM_001244950.2(SPOCK2):c.600C>T (p.Thr200=)	SPOCK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2533583	NM_001244950.2(SPOCK2):c.730G>T (p.Ala244Ser)	SPOCK2 (A244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529884	NM_001244950.2(SPOCK2):c.290G>T (p.Arg97Leu)	SPOCK2 (R97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527313	NM_001244950.2(SPOCK2):c.694G>A (p.Ala232Thr)	SPOCK2 (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526572	NM_001244950.2(SPOCK2):c.555G>T (p.Glu185Asp)	SPOCK2 (E185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513971	NM_001244950.2(SPOCK2):c.518C>T (p.Ala173Val)	SPOCK2 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507683	NM_001244950.2(SPOCK2):c.1103C>T (p.Thr368Met)	SPOCK2 (T368M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480122	NM_001244950.2(SPOCK2):c.1224G>C (p.Glu408Asp)	SPOCK2 (E408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470367	NM_001244950.2(SPOCK2):c.401C>A (p.Ser134Tyr)	SPOCK2 (S134Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424542	NC_000010.10:g.(?_73499381)_(73862745_?)dup	ASCC1, CDH23 +4 more	Duplication	Sphingolipid activator protein 1 deficiency	GUncertain significance
Select item 2409738	NM_001244950.2(SPOCK2):c.71G>A (p.Gly24Asp)	SPOCK2 (G24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403806	NM_001244950.2(SPOCK2):c.1052G>A (p.Ser351Asn)	SPOCK2 (S351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392946	NM_001244950.2(SPOCK2):c.1012G>A (p.Asp338Asn)	SPOCK2 (D338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367738	NM_001244950.2(SPOCK2):c.1148C>T (p.Ser383Leu)	SPOCK2 (S383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366650	NM_001244950.2(SPOCK2):c.812C>T (p.Ala271Val)	SPOCK2 (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354922	NM_001244950.2(SPOCK2):c.1138G>A (p.Val380Met)	SPOCK2 (V380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350642	NM_001244950.2(SPOCK2):c.701C>T (p.Pro234Leu)	SPOCK2 (P234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341039	NM_001244950.2(SPOCK2):c.305T>C (p.Ile102Thr)	SPOCK2 (I102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317415	NM_001244950.2(SPOCK2):c.67G>A (p.Glu23Lys)	SPOCK2 (E23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308649	NM_001244950.2(SPOCK2):c.1265A>G (p.Tyr422Cys)	SPOCK2 (Y422C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299608	NM_001244950.2(SPOCK2):c.49G>A (p.Ala17Thr)	SPOCK2 (A17T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274044	NM_001244950.2(SPOCK2):c.739A>G (p.Lys247Glu)	SPOCK2 (K247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 780139	NM_001244950.2(SPOCK2):c.35C>T (p.Pro12Leu)	SPOCK2 (P12L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780138	NM_001244950.2(SPOCK2):c.813C>T (p.Ala271=)	SPOCK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773516	NM_001244950.2(SPOCK2):c.1057G>A (p.Gly353Ser)	SPOCK2 (G353S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768372	NM_001244950.2(SPOCK2):c.1149G>A (p.Ser383=)	SPOCK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 57