SPP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 155239	GRCh38/hg38 2q37.1(chr2:233890063-234101264)x1	LOC121009631, LOC122861317 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3033178	NM_006944.3(SPP2):c.-1C>A	SPP2	Single nucleotide variant (5 prime UTR variant)	SPP2-related disorder	GLikely benign
Select item 2099780	NM_006944.3(SPP2):c.10A>C (p.Arg4=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994475	NM_006944.3(SPP2):c.26C>G (p.Thr9Arg)	SPP2 (T9R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 971275	NM_006944.3(SPP2):c.26C>T (p.Thr9Met)	SPP2 (T9M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1133128	NM_006944.3(SPP2):c.27G>T (p.Thr9=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857130	NM_006944.3(SPP2):c.29T>A (p.Met10Lys)	SPP2 (M10K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982068	NM_006944.3(SPP2):c.29T>C (p.Met10Thr)	SPP2 (M10T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027529	NM_006944.3(SPP2):c.49_52dup (p.Phe18fs)	SPP2 (F18fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 731805	NM_006944.3(SPP2):c.48T>C (p.Ile16=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1380397	NM_006944.3(SPP2):c.50T>C (p.Met17Thr)	SPP2 (M17T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819076	NM_006944.3(SPP2):c.59T>A (p.Leu20His)	SPP2 (L20H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989218	NM_006944.3(SPP2):c.61_69del (p.Gly21_Asn23del)	SPP2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2964092	NM_006944.3(SPP2):c.64A>G (p.Met22Val)	SPP2 (M22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655865	NM_006944.3(SPP2):c.69C>T (p.Asn23=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393042	NM_006944.3(SPP2):c.71_72insTGTTTGCTCTTGGAATTATGT (p.Tyr24_Trp25insValCysSerTrpAsnTyrVal)	SPP2	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1616982	NM_006944.3(SPP2):c.72C>T (p.Tyr24=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449263	NM_006944.3(SPP2):c.75G>C (p.Trp25Cys)	SPP2 (W25C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971622	NM_006944.3(SPP2):c.75_76delinsCC (p.Trp25_Ser26delinsCysPro)	SPP2	Indel (missense variant)	not provided	GUncertain significance
Select item 3169334	NM_006944.3(SPP2):c.80G>A (p.Cys27Tyr)	SPP2 (C27Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2014210	NM_006944.3(SPP2):c.85+20G>A	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1142533	NM_006944.3(SPP2):c.86-14G>T	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1120925	NM_006944.3(SPP2):c.86-14G>C	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1370240	NM_006944.3(SPP2):c.86-9C>A	SPP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 851783	NM_006944.3(SPP2):c.86-9C>T	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1439585	NM_006944.3(SPP2):c.86-8G>A	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032472	NM_006944.3(SPP2):c.86-5T>C	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005114	NM_006944.3(SPP2):c.86-1G>T	SPP2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1347594	NM_006944.3(SPP2):c.95T>C (p.Val32Ala)	SPP2 (V32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550305	NM_006944.3(SPP2):c.96G>T (p.Val32=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027530	NM_006944.3(SPP2):c.105C>T (p.Tyr35=)	SPP2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 2542910	NM_006944.3(SPP2):c.106G>A (p.Asp36Asn)	SPP2 (D36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1532101	NM_006944.3(SPP2):c.108T>C (p.Asp36=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170807	NM_006944.3(SPP2):c.108T>A (p.Asp36Glu)	SPP2 (D36E)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GBenign
Select item 1018102	NM_006944.3(SPP2):c.112T>G (p.Ser38Ala)	SPP2 (S38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781690	NM_006944.3(SPP2):c.113C>T (p.Ser38Phe)	SPP2 (S38F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1020185	NM_006944.3(SPP2):c.120A>C (p.Leu40Phe)	SPP2 (L40F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935834	NM_006944.3(SPP2):c.123G>A (p.Arg41=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839757	NM_006944.3(SPP2):c.124G>A (p.Asp42Asn)	SPP2 (D42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988903	NM_006944.3(SPP2):c.126T>A (p.Asp42Glu)	SPP2 (D42E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603396	NM_006944.3(SPP2):c.126T>C (p.Asp42=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394548	NM_006944.3(SPP2):c.144G>A (p.Val48=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1374290	NM_006944.3(SPP2):c.154A>T (p.Asn52Tyr)	SPP2 (N52Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857698	NM_006944.3(SPP2):c.155A>T (p.Asn52Ile)	SPP2 (N52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960366	NM_006944.3(SPP2):c.158C>G (p.Ser53Cys)	SPP2 (S53C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477930	NM_006944.3(SPP2):c.160C>T (p.Gln54Ter)	SPP2 (Q54*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1117956	NM_006944.3(SPP2):c.165A>G (p.Ser55=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1055065	NM_006944.3(SPP2):c.173C>T (p.Pro58Leu)	SPP2 (P58L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1652545	NM_006944.3(SPP2):c.174G>A (p.Pro58=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782239	NM_006944.3(SPP2):c.174G>T (p.Pro58=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3027531	NM_006944.3(SPP2):c.178C>G (p.Leu60Val)	SPP2 (L60V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 2076756	NM_006944.3(SPP2):c.180G>C (p.Leu60=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666807	NM_006944.3(SPP2):c.183T>C (p.Phe61=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027532	NM_006944.3(SPP2):c.184C>G (p.Arg62Gly)	SPP2 (R62G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1442543	NM_006944.3(SPP2):c.184C>T (p.Arg62Trp)	SPP2 (R62W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923782	NM_006944.3(SPP2):c.185G>A (p.Arg62Gln)	SPP2 (R62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142138	NM_006944.3(SPP2):c.186G>C (p.Arg62=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518481	NM_006944.3(SPP2):c.187G>A (p.Ala63Thr)	SPP2 (A63T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718237	NM_006944.3(SPP2):c.193A>G (p.Arg65Gly)	SPP2 (R65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857400	NM_006944.3(SPP2):c.210+1G>A	SPP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1973995	NM_006944.3(SPP2):c.210+2T>G	SPP2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2171569	NM_006944.3(SPP2):c.210+7G>T	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010533	NM_006944.3(SPP2):c.210+13T>G	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784037	NM_006944.3(SPP2):c.210+17A>G	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 1964522	NM_006944.3(SPP2):c.211-20G>A	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640410	NM_006944.3(SPP2):c.211-18A>C	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998008	NM_006944.3(SPP2):c.211-16C>A	SPP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984564	NM_006944.3(SPP2):c.212T>C (p.Val71Ala)	SPP2 (V71A)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1912811	NM_006944.3(SPP2):c.229A>T (p.Asn77Tyr)	SPP2 (N77Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480491	NM_006944.3(SPP2):c.232A>G (p.Asn78Asp)	SPP2 (N78D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482188	NM_006944.3(SPP2):c.262C>T (p.Arg88Trp)	SPP2 (R88W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924450	NM_006944.3(SPP2):c.263G>A (p.Arg88Gln)	SPP2 (R88Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168002	NM_006944.3(SPP2):c.270T>A (p.Thr90=)	SPP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2115133	NM_006944.3(SPP2):c.273A>G (p.Thr91=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046799	NM_006944.3(SPP2):c.274T>C (p.Cys92Arg)	SPP2 (C92R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1958212	NM_006944.3(SPP2):c.275G>A (p.Cys92Tyr)	SPP2 (C92Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996737	NM_006944.3(SPP2):c.277A>G (p.Arg93Gly)	SPP2 (R93G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422054	NM_006944.3(SPP2):c.278G>A (p.Arg93Lys)	SPP2 (R93K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2800453	NM_006944.3(SPP2):c.279G>A (p.Arg93=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1010635	NM_006944.3(SPP2):c.279G>C (p.Arg93Ser)	SPP2 (R93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960518	NM_006944.3(SPP2):c.295G>T (p.Asp99Tyr)	SPP2 (D99Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958362	NM_006944.3(SPP2):c.296A>G (p.Asp99Gly)	SPP2 (D99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170674	NM_006944.3(SPP2):c.300C>T (p.Pro100=)	SPP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1024536	NM_006944.3(SPP2):c.301G>A (p.Ala101Thr)	SPP2 (A101T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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