SPRN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC126861096, LOC126861097 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	ABRAXAS2, ACADSB +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130004871, LOC130004872 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	LOC130004930, LOC130004931 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC110120892, LOC110120898 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	ABRAXAS2, ACADSB +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	LOC132089760, LOC132089761 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	LOC110120928, LOC110121444 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	EDRF1, EDRF1-AS1 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	ABRAXAS2, ADAM12 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	ADAM12, ADAM8 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005036, LOC132089757 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130005028, LOC130005029 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	EBF3, ECHS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	ADAM8, ADGRA1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149205	GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	ADAM8, ADGRA1 +61 more	Copy number loss	See cases	GUncertain significance
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	ADAM8, ADGRA1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	GUncertain significance
Select item 57266	GRCh38/hg38 10q26.3(chr10:133390058-133564028)x1	CYP2E1, LOC110599585 +16 more	Copy number loss	See cases	GBenign
Select item 59812	GRCh38/hg38 10q26.3(chr10:133398406-133421339)x1	LOC130005030, LOC130005031 +2 more	Copy number loss	See cases	GBenign
Select item 157190	NC_000010.11:g.133403671_133556028dup	CYP2E1, LOC110599585 +11 more	Duplication	Normal pregnancy	Gnot provided
Select item 146782	GRCh38/hg38 10q26.3(chr10:133421259-133591046)x3	CYP2E1, LOC110599585 +11 more	Copy number gain	See cases	GBenign
Select item 146652	GRCh38/hg38 10q26.3(chr10:133421283-133558988)x1	CYP2E1, LOC110599585 +11 more	Copy number loss	See cases	GBenign
Select item 2622551	NM_001391974.1(SPRN):c.449G>A (p.Arg150Gln)	SPRN (R150Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273690	NM_001391974.1(SPRN):c.394G>A (p.Gly132Ser)	SPRN (G132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294912	NM_001391974.1(SPRN):c.368G>C (p.Trp123Ser)	SPRN (W123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380624	NM_001391974.1(SPRN):c.367T>C (p.Trp123Arg)	SPRN (W123R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272840	NM_001391974.1(SPRN):c.331A>C (p.Asn111His)	SPRN (N111H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398925	NM_001391974.1(SPRN):c.281G>C (p.Gly94Ala)	SPRN (G94A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411610	NM_001391974.1(SPRN):c.269G>A (p.Arg90Lys)	SPRN (R90K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218912	NM_001391974.1(SPRN):c.236C>T (p.Ala79Val)	SPRN (A79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512977	NM_001391974.1(SPRN):c.230C>T (p.Ala77Val)	SPRN (A77V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611783	NM_001391974.1(SPRN):c.221G>T (p.Gly74Val)	SPRN (G74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276007	NM_001391974.1(SPRN):c.205G>C (p.Ala69Pro)	SPRN (A69P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551952	NM_001391974.1(SPRN):c.199G>A (p.Ala67Thr)	SPRN (A67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355610	NM_001391974.1(SPRN):c.178C>G (p.Pro60Ala)	SPRN (P60A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495627	NM_001391974.1(SPRN):c.176C>T (p.Ala59Val)	SPRN (A59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246354	NM_001391974.1(SPRN):c.165G>T (p.Gln55His)	SPRN (Q55H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405265	NM_001391974.1(SPRN):c.158C>T (p.Pro53Leu)	SPRN (P53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341989	NM_001391974.1(SPRN):c.125G>A (p.Gly42Asp)	SPRN (G42D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601255	NM_001391974.1(SPRN):c.79G>A (p.Gly27Ser)	SPRN (G27S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409293	NM_001391974.1(SPRN):c.46G>A (p.Ala16Thr)	SPRN (A16T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404743	NM_001391974.1(SPRN):c.11C>T (p.Ala4Val)	SPRN (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3024575	GRCh37/hg19 10q26.3(chr10:135193503-135412582)x1	CYP2E1, MTG1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2672426	GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3	CALY, CYP2E1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 2427551	NC_000010.10:g.(?_134598420)_(135373622_?)dup	ADAM8, ZNF511 +17 more	Duplication	not provided	GUncertain significance
Select item 1809436	GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1	ADAM8, ADGRA1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1458937	NC_000010.10:g.(?_134598420)_(135373622_?)del	ADAM8, ADGRA1 +17 more	Deletion	not provided	GPathogenic
Select item 1456992	NC_000010.10:g.(?_134916201)_(135439108_?)del	ADAM8, ADGRA1 +15 more	Deletion	not provided	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	TCERG1L, TCERG1L-AS1 +35 more	Copy number loss	Global developmental delay	GPathogenic

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