124976[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	LOC130060059, LOC130060060 +167 more	Copy number loss	See cases	GLikely pathogenic
Select item 145539	GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3	ANKFY1, CYB5D2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +142 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +71 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 60131	GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3	ANKFY1, GGT6 +20 more	Copy number gain	See cases	GUncertain significance
Select item 146057	GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3	ANKFY1, LOC121587571 +17 more	Copy number gain	See cases	GUncertain significance
Select item 147907	GRCh38/hg38 17p13.2(chr17:4289368-4634221)x3	ALOX15, GGT6 +19 more	Copy number gain	See cases	GUncertain significance
Select item 155206	GRCh38/hg38 17p13.2(chr17:4378892-4687204)x1	ALOX15, GGT6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 1273221	NC_000017.11:g.4498679G>A	LOC130060025, SPNS2	Single nucleotide variant	not provided	GBenign
Select item 1183043	NM_001124758.3(SPNS2):c.-153G>C	SPNS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 2373759	NM_001124758.3(SPNS2):c.195G>T (p.Arg65Ser)	SPNS2 (R65S)	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 1049188	NM_001124758.3(SPNS2):c.220ACCCCCGGC[1] (p.74TPG[1])	SPNS2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2647256	NM_001124758.3(SPNS2):c.213C>T (p.Pro71=)	SPNS2	Single nucleotide variant (synonymous variant)	not provided	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 3044738	NM_001124758.3(SPNS2):c.216C>T (p.Pro72=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition	GBenign
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 2359067	NM_001124758.3(SPNS2):c.229A>C (p.Thr77Pro)	SPNS2 (T77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279916	NM_001124758.3(SPNS2):c.370+91T>C	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1240719	NM_001124758.3(SPNS2):c.436+31G>A	SPNS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1271863	NM_001124758.3(SPNS2):c.436+67T>C	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2219470	NM_001124758.3(SPNS2):c.491G>A (p.Arg164His)	SPNS2 (R164H)	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 749316	NM_001124758.3(SPNS2):c.540C>G (p.Ala180=)	SPNS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1238088	NM_001124758.3(SPNS2):c.573+52G>T	SPNS2	Single nucleotide variant (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 3050164	NM_001124758.3(SPNS2):c.609G>A (p.Val203=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition	GBenign
Select item 1064903	NM_001124758.3(SPNS2):c.643C>G (p.Pro215Ala)	SPNS2 (P215A)	Single nucleotide variant (missense variant)	Hearing impairment	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 3037940	NM_001124758.3(SPNS2):c.726-3C>T	SPNS2	Single nucleotide variant (intron variant)	SPNS2-related condition	GBenign
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 1245463	NM_001124758.3(SPNS2):c.792+36C>T	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 1288185	NM_001124758.3(SPNS2):c.793-170G>A	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
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 3169238	NM_001124758.3(SPNS2):c.865G>A (p.Ala289Thr)	SPNS2 (A289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040279	NM_001124758.3(SPNS2):c.867C>A (p.Ala289=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition	GLikely benign
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 2221675	NM_001124758.3(SPNS2):c.877G>A (p.Gly293Arg)	SPNS2 (G293R)	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 1704252	NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)	SPNS2 (W302*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 2647257	NM_001124758.3(SPNS2):c.930T>C (p.Ile310=)	SPNS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1229914	NM_001124758.3(SPNS2):c.935+26T>C	SPNS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 521863	NM_001124758.3(SPNS2):c.952TCC[1] (p.Ser319del)	SPNS2 (S319del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3056749	NM_001124758.3(SPNS2):c.962C>G (p.Ala321Gly)	SPNS2 (A321G)	Single nucleotide variant (missense variant)	SPNS2-related condition	GLikely benign
Select item 3038936	NM_001124758.3(SPNS2):c.966G>A (p.Thr322=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition	GBenign
Select item 785549	NM_001124758.3(SPNS2):c.1018C>T (p.Leu340=)	SPNS2	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal recessive 115 +1 more	GBenign/Likely benign
Select item 2570967	NM_001124758.3(SPNS2):c.1026C>T (p.Arg342=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition +1 more	GLikely benign
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 521864	NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs)	SPNS2 (P356fs)	Indel (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
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 2283024	NM_001124758.3(SPNS2):c.1165C>T (p.Arg389Cys)	SPNS2 (R389C)	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 2395476	NM_001124758.3(SPNS2):c.1181G>A (p.Arg394Gln)	SPNS2 (R394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043079	NM_001124758.3(SPNS2):c.1222G>T (p.Ala408Ser)	SPNS2 (A408S)	Single nucleotide variant (missense variant)	SPNS2-related condition	GBenign
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 3040671	NM_001124758.3(SPNS2):c.1245C>T (p.Phe415=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition	GLikely benign
Select item 2647258	NM_001124758.3(SPNS2):c.1249G>A (p.Ala417Thr)	SPNS2 (A417T)	Single nucleotide variant (missense variant)	SPNS2-related condition +1 more	GLikely benign
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 1221480	NM_001124758.3(SPNS2):c.1278+142C>T	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229572	NM_001124758.3(SPNS2):c.1278+170G>A	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 3033814	NM_001124758.3(SPNS2):c.1291G>A (p.Val431Ile)	SPNS2 (V431I)	Single nucleotide variant (missense variant)	SPNS2-related condition	GLikely benign
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 1250539	NM_001124758.3(SPNS2):c.1344+66C>T	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 1221923	NM_001124758.3(SPNS2):c.1345-58A>G	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3169233	NM_001124758.3(SPNS2):c.1347C>T (p.Tyr449=)	SPNS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3036800	NM_001124758.3(SPNS2):c.1362G>A (p.Thr454=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition	GLikely benign
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 2518335	NM_001124758.3(SPNS2):c.1364G>A (p.Arg455Gln)	SPNS2 (R455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046068	NM_001124758.3(SPNS2):c.1368C>T (p.Arg456=)	SPNS2	Single nucleotide variant (synonymous variant)	SPNS2-related condition	GLikely benign
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 1287562	NM_001124758.3(SPNS2):c.1443+27C>A	SPNS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232809	NM_001124758.3(SPNS2):c.1443+28A>G	SPNS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230986	NM_001124758.3(SPNS2):c.1443+32C>G	SPNS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233657	NM_001124758.3(SPNS2):c.1443+43A>G	SPNS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229775	NM_001124758.3(SPNS2):c.1444-43G>T	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 3169234	NM_001124758.3(SPNS2):c.1459C>T (p.Arg487Cys)	SPNS2 (R487C)	Single nucleotide variant (missense variant)	not specified	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

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