ClinVar for Gene (Select 124976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356789	NM_001124758.3(SPNS2):c.792+5G>A	SPNS2	Single nucleotide variant (intron variant)	SPNS2-related disorder	GLikely benign
Select item 3354408	NM_001124758.3(SPNS2):c.935+3G>T	SPNS2	Single nucleotide variant (intron variant)	SPNS2-related disorder	GLikely benign
Select item 3352578	NM_001124758.3(SPNS2):c.417C>T (p.Gly139=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GLikely benign
Select item 3352192	NM_001124758.3(SPNS2):c.36C>G (p.Gly12=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GLikely benign
Select item 3351285	NM_001124758.3(SPNS2):c.1628_1645dup (p.Lys548_Val549insAlaProAlaSerValLys)	SPNS2	Duplication (inframe_insertion)	SPNS2-related disorder	GUncertain significance
Select item 3350691	NM_001124758.3(SPNS2):c.373G>A (p.Val125Ile)	SPNS2 (V125I)	Single nucleotide variant (missense variant)	SPNS2-related disorder	GLikely benign
Select item 3350403	NM_001124758.3(SPNS2):c.220ACCCCCGGC[3] (p.Gly79_Cys80insThrProGly)	SPNS2	Microsatellite (inframe_insertion)	SPNS2-related disorder	GUncertain significance
Select item 3322305	NM_001124758.3(SPNS2):c.1432C>T (p.Leu478Phe)	SPNS2 (L478F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322304	NM_001124758.3(SPNS2):c.121G>T (p.Gly41Trp)	SPNS2 (G41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322303	NM_001124758.3(SPNS2):c.1553T>C (p.Phe518Ser)	SPNS2 (F518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322302	NM_001124758.3(SPNS2):c.1585G>A (p.Asp529Asn)	SPNS2 (D529N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322301	NM_001124758.3(SPNS2):c.287G>C (p.Ser96Thr)	SPNS2 (S96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322300	NM_001124758.3(SPNS2):c.455T>C (p.Met152Thr)	SPNS2 (M152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322299	NM_001124758.3(SPNS2):c.1195G>C (p.Val399Leu)	SPNS2 (V399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3169238	NM_001124758.3(SPNS2):c.865G>A (p.Ala289Thr)	SPNS2 (A289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169237	NM_001124758.3(SPNS2):c.802G>A (p.Val268Ile)	SPNS2 (V268I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169236	NM_001124758.3(SPNS2):c.215C>G (p.Pro72Arg)	SPNS2 (P72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169235	NM_001124758.3(SPNS2):c.205A>C (p.Thr69Pro)	SPNS2 (T69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169234	NM_001124758.3(SPNS2):c.1459C>T (p.Arg487Cys)	SPNS2 (R487C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169233	NM_001124758.3(SPNS2):c.1347C>T (p.Tyr449=)	SPNS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3169232	NM_001124758.3(SPNS2):c.116G>C (p.Cys39Ser)	SPNS2 (C39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3056749	NM_001124758.3(SPNS2):c.962C>G (p.Ala321Gly)	SPNS2 (A321G)	Single nucleotide variant (missense variant)	SPNS2-related disorder	GLikely benign
Select item 3050692	NM_001124758.3(SPNS2):c.1607+9G>C	SPNS2	Single nucleotide variant (intron variant)	SPNS2-related disorder	GLikely benign
Select item 3050164	NM_001124758.3(SPNS2):c.609G>A (p.Val203=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GBenign
Select item 3048494	NM_001124758.3(SPNS2):c.1561G>A (p.Ala521Thr)	SPNS2 (A521T)	Single nucleotide variant (missense variant)	SPNS2-related disorder	GLikely benign
Select item 3046068	NM_001124758.3(SPNS2):c.1368C>T (p.Arg456=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GLikely benign
Select item 3044738	NM_001124758.3(SPNS2):c.216C>T (p.Pro72=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GBenign
Select item 3043079	NM_001124758.3(SPNS2):c.1222G>T (p.Ala408Ser)	SPNS2 (A408S)	Single nucleotide variant (missense variant)	SPNS2-related disorder	GBenign
Select item 3040671	NM_001124758.3(SPNS2):c.1245C>T (p.Phe415=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GLikely benign
Select item 3040279	NM_001124758.3(SPNS2):c.867C>A (p.Ala289=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GLikely benign
Select item 3038936	NM_001124758.3(SPNS2):c.966G>A (p.Thr322=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GBenign
Select item 3037940	NM_001124758.3(SPNS2):c.726-3C>T	SPNS2	Single nucleotide variant (intron variant)	SPNS2-related disorder	GBenign
Select item 3036800	NM_001124758.3(SPNS2):c.1362G>A (p.Thr454=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GLikely benign
Select item 3033814	NM_001124758.3(SPNS2):c.1291G>A (p.Val431Ile)	SPNS2 (V431I)	Single nucleotide variant (missense variant)	SPNS2-related disorder	GLikely benign
Select item 3033154	NM_001124758.3(SPNS2):c.1590C>A (p.Arg530=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related disorder	GLikely benign
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647259	NM_001124758.3(SPNS2):c.1512G>A (p.Ala504=)	SPNS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647258	NM_001124758.3(SPNS2):c.1249G>A (p.Ala417Thr)	SPNS2 (A417T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647257	NM_001124758.3(SPNS2):c.930T>C (p.Ile310=)	SPNS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647256	NM_001124758.3(SPNS2):c.213C>T (p.Pro71=)	SPNS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2570967	NM_001124758.3(SPNS2):c.1026C>T (p.Arg342=)	SPNS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532954	NM_001124758.3(SPNS2):c.1090C>T (p.Leu364Phe)	SPNS2 (L364F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518335	NM_001124758.3(SPNS2):c.1364G>A (p.Arg455Gln)	SPNS2 (R455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467327	NM_001124758.3(SPNS2):c.895C>T (p.Arg299Trp)	SPNS2 (R299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465873	NM_001124758.3(SPNS2):c.896G>A (p.Arg299Gln)	SPNS2 (R299Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457221	NM_001124758.3(SPNS2):c.541G>A (p.Val181Ile)	SPNS2 (V181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403859	NM_001124758.3(SPNS2):c.769G>A (p.Gly257Arg)	SPNS2 (G257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395476	NM_001124758.3(SPNS2):c.1181G>A (p.Arg394Gln)	SPNS2 (R394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385947	NM_001124758.3(SPNS2):c.1267G>A (p.Val423Ile)	SPNS2 (V423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379185	NM_001124758.3(SPNS2):c.946G>A (p.Val316Ile)	SPNS2 (V316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378433	NM_001124758.3(SPNS2):c.1180C>T (p.Arg394Trp)	SPNS2 (R394W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373759	NM_001124758.3(SPNS2):c.195G>T (p.Arg65Ser)	SPNS2 (R65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359067	NM_001124758.3(SPNS2):c.229A>C (p.Thr77Pro)	SPNS2 (T77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359066	NM_001124758.3(SPNS2):c.220A>C (p.Thr74Pro)	SPNS2 (T74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357879	NM_001124758.3(SPNS2):c.1058G>C (p.Cys353Ser)	SPNS2 (C353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346708	NM_001124758.3(SPNS2):c.1579G>A (p.Val527Ile)	SPNS2 (V527I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318586	NM_001124758.3(SPNS2):c.1234T>G (p.Cys412Gly)	SPNS2 (C412G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313129	NM_001124758.3(SPNS2):c.531C>G (p.Phe177Leu)	SPNS2 (F177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312562	NM_001124758.3(SPNS2):c.871C>G (p.Gln291Glu)	SPNS2 (Q291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311961	NM_001124758.3(SPNS2):c.1519C>T (p.Leu507Phe)	SPNS2 (L507F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305829	NM_001124758.3(SPNS2):c.683C>T (p.Thr228Met)	SPNS2 (T228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302620	NM_001124758.3(SPNS2):c.1633G>A (p.Ala545Thr)	SPNS2 (A545T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2289955	NM_001124758.3(SPNS2):c.1483C>T (p.Leu495Phe)	SPNS2 (L495F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283024	NM_001124758.3(SPNS2):c.1165C>T (p.Arg389Cys)	SPNS2 (R389C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221675	NM_001124758.3(SPNS2):c.877G>A (p.Gly293Arg)	SPNS2 (G293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219470	NM_001124758.3(SPNS2):c.491G>A (p.Arg164His)	SPNS2 (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207063	NM_001124758.3(SPNS2):c.1363C>T (p.Arg455Trp)	SPNS2 (R455W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204882	NM_001124758.3(SPNS2):c.1417G>A (p.Ala473Thr)	SPNS2 (A473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711423	NM_001124758.3(SPNS2):c.1301C>G (p.Thr434Arg)	SPNS2 (T434R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704253	NM_001124758.3(SPNS2):c.487G>A (p.Asp163Asn)	SPNS2 (D163N)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 1704252	NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)	SPNS2 (W302*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 1691123	NM_001124758.3(SPNS2):c.371-2515A>G	SPNS2	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 1339844	GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3	ANKFY1, CYB5D2 +7 more	Copy number gain	not provided	Gnot provided
Select item 1288185	NM_001124758.3(SPNS2):c.793-170G>A	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287562	NM_001124758.3(SPNS2):c.1443+27C>A	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287082	NM_001124758.3(SPNS2):c.1607+74C>G	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279916	NM_001124758.3(SPNS2):c.370+91T>C	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278228	NM_001124758.3(SPNS2):c.792+57G>C	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274229	NM_001124758.3(SPNS2):c.1607+13_1607+14insGA	SPNS2	Insertion (intron variant)	not provided	GBenign
Select item 1273221	NC_000017.11:g.4498679G>A	LOC130060025, SPNS2	Single nucleotide variant	not provided	GBenign
Select item 1271863	NM_001124758.3(SPNS2):c.436+67T>C	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270819	NM_001124758.3(SPNS2):c.1607+107A>C	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250539	NM_001124758.3(SPNS2):c.1344+66C>T	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246815	NM_001124758.3(SPNS2):c.1607+12_1607+13dup	SPNS2	Duplication (intron variant)	not provided	GBenign
Select item 1245463	NM_001124758.3(SPNS2):c.792+36C>T	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244662	NM_001124758.3(SPNS2):c.1607+88G>C	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242620	NM_001124758.3(SPNS2):c.1444-26T>C	SPNS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1240719	NM_001124758.3(SPNS2):c.436+31G>A	SPNS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238406	NM_001124758.3(SPNS2):c.1607+13dup	SPNS2	Duplication (intron variant)	not provided	GBenign
Select item 1238088	NM_001124758.3(SPNS2):c.573+52G>T	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236969	NM_001124758.3(SPNS2):c.1279-152G>A	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235836	NM_001124758.3(SPNS2):c.1345-89G>A	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235782	NM_001124758.3(SPNS2):c.1607+10_1607+11insA	SPNS2	Insertion (intron variant)	not provided	GBenign
Select item 1234431	NM_001124758.3(SPNS2):c.574-104C>G	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233657	NM_001124758.3(SPNS2):c.1443+43A>G	SPNS2	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive 115 +1 more	GBenign

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