SPON1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 3169310	NM_006108.4(SPON1):c.32G>A (p.Ser11Asn)	SPON1 (S11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325119	NM_006108.4(SPON1):c.38C>T (p.Thr13Ile)	SPON1 (T13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322334	NM_006108.4(SPON1):c.52G>A (p.Ala18Thr)	SPON1 (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397161	NM_006108.4(SPON1):c.74C>T (p.Ala25Val)	SPON1 (A25V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279891	NM_006108.4(SPON1):c.100C>G (p.Leu34Val)	SPON1 (L34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613775	NM_006108.4(SPON1):c.125G>A (p.Gly42Asp)	SPON1 (G42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289282	NM_006108.4(SPON1):c.131G>A (p.Cys44Tyr)	SPON1 (C44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1179535	NM_006108.4(SPON1):c.132C>T (p.Cys44=)	SPON1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3169306	NM_006108.4(SPON1):c.139A>G (p.Ile47Val)	SPON1 (I47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549641	NM_006108.4(SPON1):c.148G>A (p.Ala50Thr)	SPON1 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386473	NM_006108.4(SPON1):c.152A>G (p.Gln51Arg)	SPON1 (Q51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314993	NM_006108.4(SPON1):c.160C>T (p.Arg54Trp)	SPON1 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411139	NM_006108.4(SPON1):c.190C>T (p.Arg64Cys)	SPON1 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169308	NM_006108.4(SPON1):c.204C>A (p.Asp68Glu)	SPON1 (D68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297672	NM_006108.4(SPON1):c.232T>A (p.Tyr78Asn)	SPON1 (Y78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527821	NM_006108.4(SPON1):c.262T>A (p.Ser88Thr)	SPON1 (S88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286854	NM_006108.4(SPON1):c.271A>G (p.Arg91Gly)	SPON1 (R91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622550	NM_006108.4(SPON1):c.295A>G (p.Arg99Gly)	SPON1 (R99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272089	NM_006108.4(SPON1):c.391G>A (p.Ala131Thr)	SPON1 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477080	NM_006108.4(SPON1):c.397A>T (p.Thr133Ser)	SPON1 (T133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169311	NM_006108.4(SPON1):c.461C>T (p.Thr154Ile)	SPON1 (T154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353354	NM_006108.4(SPON1):c.490G>A (p.Val164Ile)	SPON1 (V164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258157	NM_006108.4(SPON1):c.502A>G (p.Ile168Val)	SPON1 (I168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234632	NM_006108.4(SPON1):c.511T>A (p.Phe171Ile)	SPON1 (F171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275143	NM_006108.4(SPON1):c.647C>T (p.Ser216Phe)	SPON1 (S216F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203955	NM_006108.4(SPON1):c.661C>T (p.Pro221Ser)	SPON1 (P221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339287	NM_006108.4(SPON1):c.850A>C (p.Lys284Gln)	SPON1 (K284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311864	NM_006108.4(SPON1):c.854C>T (p.Ala285Val)	SPON1 (A285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483108	NM_006108.4(SPON1):c.1607C>T (p.Ser536Phe)	SPON1 (S536F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543365	NM_006108.4(SPON1):c.1723G>T (p.Gly575Cys)	SPON1 (G575C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521415	NM_006108.4(SPON1):c.1728G>A (p.Met576Ile)	SPON1 (M576I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169307	NM_006108.4(SPON1):c.1997C>A (p.Pro666His)	SPON1 (P666H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169309	NM_006108.4(SPON1):c.2199G>T (p.Glu733Asp)	SPON1 (E733D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	PTH, RRAS2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 47