ClinVar for Gene (Select 284297) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322802	NM_001144950.2(SSC5D):c.1482T>G (p.Asp494Glu)	SSC5D (D494E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322801	NM_001144950.2(SSC5D):c.2873T>G (p.Leu958Arg)	SSC5D (L958R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322800	NM_001144950.2(SSC5D):c.1907C>A (p.Ala636Glu)	SSC5D (A636E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322799	NM_001144950.2(SSC5D):c.3826C>G (p.His1276Asp)	SSC5D (H1276D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322798	NM_001144950.2(SSC5D):c.1354C>T (p.Pro452Ser)	SSC5D (P452S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322797	NM_001144950.2(SSC5D):c.334G>A (p.Glu112Lys)	SSC5D (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322796	NM_001144950.2(SSC5D):c.855C>G (p.Ser285Arg)	SSC5D (S285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322795	NM_001144950.2(SSC5D):c.3031C>T (p.Pro1011Ser)	SSC5D (P1011S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322794	NM_001144950.2(SSC5D):c.226G>A (p.Gly76Arg)	SSC5D (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322793	NM_001144950.2(SSC5D):c.3959C>G (p.Thr1320Ser)	SSC5D (T1320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322792	NM_001144950.2(SSC5D):c.4294T>G (p.Ser1432Ala)	SSC5D (S1432A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322791	NM_001144950.2(SSC5D):c.1055C>T (p.Ala352Val)	SSC5D (A352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322790	NM_001144950.2(SSC5D):c.1268C>T (p.Thr423Met)	SSC5D (T423M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322789	NM_001144950.2(SSC5D):c.3277A>C (p.Thr1093Pro)	SSC5D (T1093P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322788	NM_001144950.2(SSC5D):c.1564C>T (p.Arg522Cys)	SSC5D (R522C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322787	NM_001144950.2(SSC5D):c.688C>T (p.Arg230Cys)	SSC5D (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322786	NM_001144950.2(SSC5D):c.2777C>T (p.Pro926Leu)	SSC5D (P926L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322785	NM_001144950.2(SSC5D):c.2485C>T (p.Pro829Ser)	SSC5D (P829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250819	NM_001144950.2(SSC5D):c.3768T>A (p.Ile1256=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170367	NM_001144950.2(SSC5D):c.993C>G (p.Asp331Glu)	SSC5D (D331E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170366	NM_001144950.2(SSC5D):c.94C>T (p.Arg32Cys)	SSC5D (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170365	NM_001144950.2(SSC5D):c.914G>A (p.Arg305His)	SSC5D (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170364	NM_001144950.2(SSC5D):c.88G>A (p.Ala30Thr)	SSC5D (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170363	NM_001144950.2(SSC5D):c.850C>T (p.Arg284Trp)	SSC5D (R284W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170362	NM_001144950.2(SSC5D):c.566C>A (p.Thr189Lys)	SSC5D (T189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170361	NM_001144950.2(SSC5D):c.527G>A (p.Arg176Gln)	SSC5D (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170360	NM_001144950.2(SSC5D):c.500A>G (p.Gln167Arg)	SSC5D (Q167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170359	NM_001144950.2(SSC5D):c.4597C>T (p.Arg1533Trp)	SSC5D (R1533W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170358	NM_001144950.2(SSC5D):c.4475A>G (p.Glu1492Gly)	SSC5D (E1492G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170357	NM_001144950.2(SSC5D):c.4357C>T (p.Pro1453Ser)	SSC5D (P1453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170356	NM_001144950.2(SSC5D):c.4045C>T (p.Leu1349Phe)	SSC5D (L1349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170355	NM_001144950.2(SSC5D):c.4025C>T (p.Pro1342Leu)	SSC5D (P1342L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170354	NM_001144950.2(SSC5D):c.3905C>T (p.Thr1302Ile)	SSC5D (T1302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170353	NM_001144950.2(SSC5D):c.3904A>C (p.Thr1302Pro)	SSC5D (T1302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170352	NM_001144950.2(SSC5D):c.3899A>T (p.His1300Leu)	SSC5D (H1300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170351	NM_001144950.2(SSC5D):c.3847C>T (p.Pro1283Ser)	SSC5D (P1283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170349	NM_001144950.2(SSC5D):c.3838A>C (p.Thr1280Pro)	SSC5D (T1280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170348	NM_001144950.2(SSC5D):c.3812C>T (p.Pro1271Leu)	SSC5D (P1271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170347	NM_001144950.2(SSC5D):c.3773A>T (p.Asp1258Val)	SSC5D (D1258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170346	NM_001144950.2(SSC5D):c.3725C>T (p.Thr1242Ile)	SSC5D (T1242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170345	NM_001144950.2(SSC5D):c.3515C>T (p.Thr1172Ile)	SSC5D (T1172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170344	NM_001144950.2(SSC5D):c.343G>A (p.Ala115Thr)	SSC5D (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170343	NM_001144950.2(SSC5D):c.3379T>G (p.Leu1127Val)	SSC5D (L1127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170342	NM_001144950.2(SSC5D):c.3241G>C (p.Ala1081Pro)	SSC5D (A1081P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170341	NM_001144950.2(SSC5D):c.3230G>A (p.Ser1077Asn)	SSC5D (S1077N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170340	NM_001144950.2(SSC5D):c.3151A>C (p.Thr1051Pro)	SSC5D (T1051P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170339	NM_001144950.2(SSC5D):c.2977C>T (p.Arg993Trp)	SSC5D (R993W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170338	NM_001144950.2(SSC5D):c.2876G>A (p.Gly959Glu)	SSC5D (G959E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170337	NM_001144950.2(SSC5D):c.2828C>T (p.Pro943Leu)	SSC5D (P943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170336	NM_001144950.2(SSC5D):c.271G>C (p.Gly91Arg)	SSC5D (G91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170335	NM_001144950.2(SSC5D):c.2645C>A (p.Pro882His)	SSC5D (P882H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170334	NM_001144950.2(SSC5D):c.2548G>A (p.Asp850Asn)	SSC5D (D850N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170333	NM_001144950.2(SSC5D):c.2426C>G (p.Ala809Gly)	SSC5D (A809G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170332	NM_001144950.2(SSC5D):c.2410C>T (p.Arg804Trp)	SSC5D (R804W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170331	NM_001144950.2(SSC5D):c.2248G>A (p.Glu750Lys)	SSC5D (E750K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170330	NM_001144950.2(SSC5D):c.1919C>A (p.Thr640Asn)	SSC5D (T640N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170328	NM_001144950.2(SSC5D):c.1880G>T (p.Ser627Ile)	SSC5D (S627I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170327	NM_001144950.2(SSC5D):c.1549G>A (p.Asp517Asn)	SSC5D (D517N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170326	NM_001144950.2(SSC5D):c.1471G>A (p.Val491Met)	SSC5D (V491M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170325	NM_001144950.2(SSC5D):c.1313A>G (p.Gln438Arg)	SSC5D (Q438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170324	NM_001144950.2(SSC5D):c.1307C>T (p.Thr436Met)	SSC5D (T436M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170323	NM_001144950.2(SSC5D):c.118C>T (p.Arg40Cys)	SSC5D (R40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170322	NM_001144950.2(SSC5D):c.1159C>A (p.Pro387Thr)	SSC5D (P387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170321	NM_001144950.2(SSC5D):c.1156C>G (p.Arg386Gly)	SSC5D (R386G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170320	NM_001144950.2(SSC5D):c.1073T>C (p.Phe358Ser)	SSC5D (F358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050761	NM_001144950.2(SSC5D):c.52+40_52+41dup	SSC5D	Duplication (intron variant)	SSC5D-related disorder	GLikely benign
Select item 3026889	NM_001144950.2(SSC5D):c.2724C>A (p.Pro908=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024837	NM_001144950.2(SSC5D):c.504C>T (p.Asn168=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650534	NM_001144950.2(SSC5D):c.4429A>G (p.Thr1477Ala)	SSC5D (T1477A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650533	NM_001144950.2(SSC5D):c.4374C>T (p.Thr1458=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650532	NM_001144950.2(SSC5D):c.3720C>T (p.His1240=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650531	NM_001144950.2(SSC5D):c.3711A>G (p.Thr1237=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650530	NM_001144950.2(SSC5D):c.3549G>C (p.Thr1183=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650529	NM_001144950.2(SSC5D):c.2052G>A (p.Pro684=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650528	NM_001144950.2(SSC5D):c.1802C>T (p.Ala601Val)	SSC5D (A601V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650527	NM_001144950.2(SSC5D):c.1565G>A (p.Arg522His)	SSC5D (R522H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650526	NM_001144950.2(SSC5D):c.1296G>A (p.Pro432=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650525	NM_001144950.2(SSC5D):c.1041C>T (p.Cys347=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650524	NM_001144950.2(SSC5D):c.624C>T (p.Ala208=)	SSC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650523	NM_001144950.2(SSC5D):c.481C>T (p.Arg161Cys)	SSC5D (R161C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620943	NM_001144950.2(SSC5D):c.3716C>T (p.Pro1239Leu)	SSC5D (P1239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616757	NM_001144950.2(SSC5D):c.2674G>A (p.Asp892Asn)	SSC5D (D892N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615109	NM_001144950.2(SSC5D):c.4553G>T (p.Arg1518Leu)	SSC5D (R1518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613964	NM_001144950.2(SSC5D):c.1754T>C (p.Ile585Thr)	SSC5D (I585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610914	NM_001144950.2(SSC5D):c.3352G>T (p.Val1118Phe)	SSC5D (V1118F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599856	NM_001144950.2(SSC5D):c.2863G>A (p.Ala955Thr)	SSC5D (A955T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599522	NM_001144950.2(SSC5D):c.209C>T (p.Pro70Leu)	SSC5D (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599105	NM_001144950.2(SSC5D):c.2671G>C (p.Glu891Gln)	SSC5D (E891Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597609	NM_001144950.2(SSC5D):c.2264C>T (p.Pro755Leu)	SSC5D (P755L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597575	NM_001144950.2(SSC5D):c.1360G>A (p.Val454Ile)	SSC5D (V454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595839	NM_001144950.2(SSC5D):c.640T>C (p.Trp214Arg)	SSC5D (W214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592783	NM_001144950.2(SSC5D):c.76C>T (p.Pro26Ser)	SSC5D (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592441	NM_001144950.2(SSC5D):c.1790C>T (p.Pro597Leu)	SSC5D (P597L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591638	NM_001144950.2(SSC5D):c.160G>A (p.Ala54Thr)	SSC5D (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590137	NM_001144950.2(SSC5D):c.1814C>T (p.Ser605Phe)	SSC5D (S605F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569853	NM_001144950.2(SSC5D):c.817G>A (p.Ala273Thr)	SSC5D (A273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563036	NM_001144950.2(SSC5D):c.97C>G (p.Leu33Val)	SSC5D (L33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557149	NM_001144950.2(SSC5D):c.625G>A (p.Gly209Arg)	SSC5D (G209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552670	NM_001144950.2(SSC5D):c.305G>A (p.Arg102Gln)	SSC5D (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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