ClinVar for Gene (Select 5357) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 111

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358343	NM_001145319.2(PLS1):c.894G>A (p.Ser298=)	PLS1	Single nucleotide variant (synonymous variant)	PLS1-related disorder	GUncertain significance
Select item 3352455	NM_001145319.2(PLS1):c.1790G>A (p.Arg597Gln)	PLS1 (R597Q)	Single nucleotide variant (missense variant)	PLS1-related disorder	GLikely benign
Select item 3352105	NM_001145319.2(PLS1):c.345C>T (p.Gly115=)	PLS1	Single nucleotide variant (synonymous variant)	PLS1-related disorder	GLikely benign
Select item 3351715	NM_001145319.2(PLS1):c.187G>A (p.Ala63Thr)	PLS1 (A63T)	Single nucleotide variant (missense variant)	PLS1-related disorder	GLikely benign
Select item 3337479	NM_001145319.2(PLS1):c.1178G>T (p.Gly393Val)	PLS1 (G393V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3307857	NM_001145319.2(PLS1):c.22A>G (p.Ile8Val)	PLS1 (I8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307856	NM_001145319.2(PLS1):c.1597G>A (p.Ala533Thr)	PLS1 (A533T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307855	NM_001145319.2(PLS1):c.1205G>A (p.Arg402Gln)	PLS1 (R402Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254620	NM_001145319.2(PLS1):c.544A>G (p.Ile182Val)	PLS1 (I182V)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 76	GUncertain significance
Select item 3253430	NM_001145319.2(PLS1):c.981+5G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3215462	NM_001145319.2(PLS1):c.795G>C (p.Lys265Asn)	PLS1 (K265N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215461	NM_001145319.2(PLS1):c.483T>A (p.Asp161Glu)	PLS1 (D161E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215459	NM_001145319.2(PLS1):c.1613C>T (p.Ser538Phe)	PLS1 (S538F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215458	NM_001145319.2(PLS1):c.1608G>T (p.Lys536Asn)	PLS1 (K536N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3215457	NM_001145319.2(PLS1):c.157C>G (p.Arg53Gly)	PLS1 (R53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215456	NM_001145319.2(PLS1):c.1279A>G (p.Ile427Val)	PLS1 (I427V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066274	NM_001145319.2(PLS1):c.1295A>T (p.Glu432Val)	PLS1 (E432V)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 76	GUncertain significance
Select item 3056069	NM_001145319.2(PLS1):c.580-11del	PLS1	Deletion (intron variant)	PLS1-related disorder	GLikely benign
Select item 3051401	NM_001145319.2(PLS1):c.897A>G (p.Arg299=)	PLS1	Single nucleotide variant (synonymous variant)	PLS1-related disorder	GLikely benign
Select item 3036686	NM_001145319.2(PLS1):c.429G>A (p.Lys143=)	PLS1	Single nucleotide variant (synonymous variant)	PLS1-related disorder	GLikely benign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654206	NM_001145319.2(PLS1):c.73A>C (p.Ile25Leu)	PLS1 (I25L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629586	NM_001145319.2(PLS1):c.1180G>A (p.Glu394Lys)	PLS1 (E394K)	Single nucleotide variant (missense variant)	PLS1-related disorder	GUncertain significance
Select item 2629117	NM_001145319.2(PLS1):c.583A>C (p.Asn195His)	PLS1 (N195H)	Single nucleotide variant (missense variant)	PLS1-related disorder	GUncertain significance
Select item 2621185	NM_001145319.2(PLS1):c.1208A>G (p.Asn403Ser)	PLS1 (N403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611890	NM_001145319.2(PLS1):c.1102G>T (p.Val368Leu)	PLS1 (V368L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2583018	NM_001145319.2(PLS1):c.733T>C (p.Ser245Pro)	PLS1 (S245P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2571191	NM_001145319.2(PLS1):c.707T>C (p.Val236Ala)	PLS1 (V236A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2570057	NM_001145319.2(PLS1):c.328A>G (p.Thr110Ala)	PLS1 (T110A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558331	NM_001145319.2(PLS1):c.860C>G (p.Thr287Ser)	PLS1 (T287S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538618	NM_001145319.2(PLS1):c.1084A>G (p.Lys362Glu)	PLS1 (K362E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491716	NM_001145319.2(PLS1):c.1075G>C (p.Gly359Arg)	PLS1 (G359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478840	NM_001145319.2(PLS1):c.1194G>C (p.Glu398Asp)	PLS1 (E398D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476632	NM_001145319.2(PLS1):c.1299G>A (p.Met433Ile)	PLS1 (M433I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476477	NM_001145319.2(PLS1):c.962T>C (p.Ile321Thr)	PLS1 (I321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2465641	NM_001145319.2(PLS1):c.1697G>A (p.Arg566His)	PLS1 (R566H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457356	NM_001145319.2(PLS1):c.812T>C (p.Leu271Ser)	PLS1 (L271S)	Single nucleotide variant (missense variant)	PLS1-related disorder +1 more	GUncertain significance
Select item 2442432	NM_001145319.2(PLS1):c.770G>A (p.Gly257Asp)	PLS1 (G257D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435089	NM_001145319.2(PLS1):c.557dup (p.Leu187fs)	PLS1 (L187fs)	Duplication (frameshift variant)	Hearing loss, autosomal dominant 76	GUncertain significance
Select item 2409741	NM_001145319.2(PLS1):c.278G>A (p.Arg93Gln)	PLS1 (R93Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393061	NM_001145319.2(PLS1):c.1442G>A (p.Gly481Glu)	PLS1 (G481E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384252	NM_001145319.2(PLS1):c.1000C>T (p.Arg334Cys)	PLS1 (R334C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2378511	NM_001145319.2(PLS1):c.1459G>A (p.Gly487Arg)	PLS1 (G487R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375929	NM_001145319.2(PLS1):c.1828C>G (p.Pro610Ala)	PLS1 (P610A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375928	NM_001145319.2(PLS1):c.1823T>C (p.Val608Ala)	PLS1 (V608A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368274	NM_001145319.2(PLS1):c.1028A>T (p.Asp343Val)	PLS1 (D343V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2355335	NM_001145319.2(PLS1):c.964G>A (p.Asp322Asn)	PLS1 (D322N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348050	NM_001145319.2(PLS1):c.1789C>T (p.Arg597Trp)	PLS1 (R597W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342959	NM_001145319.2(PLS1):c.1657G>A (p.Val553Ile)	PLS1 (V553I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332447	NM_001145319.2(PLS1):c.1759G>A (p.Ala587Thr)	PLS1 (A587T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326866	NM_001145319.2(PLS1):c.1582C>G (p.Gln528Glu)	PLS1 (Q528E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317562	NM_001145319.2(PLS1):c.1756T>C (p.Tyr586His)	PLS1 (Y586H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289631	NM_001145319.2(PLS1):c.1811A>G (p.Asp604Gly)	PLS1 (D604G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286193	NM_001145319.2(PLS1):c.1267G>A (p.Asp423Asn)	PLS1 (D423N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273000	NM_001145319.2(PLS1):c.1182G>C (p.Glu394Asp)	PLS1 (E394D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251794	NM_001145319.2(PLS1):c.1061C>A (p.Ala354Glu)	PLS1 (A354E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239307	NM_001145319.2(PLS1):c.737G>A (p.Arg246Lys)	PLS1 (R246K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1711969	NM_001145319.2(PLS1):c.136C>T (p.Pro46Ser)	PLS1 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707096	NM_001145319.2(PLS1):c.1057_1065del (p.Pro353_Asp355del)	PLS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1333450	NM_001145319.2(PLS1):c.1658T>A (p.Val553Asp)	PLS1 (V553D)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 76	GUncertain significance
Select item 1313927	NM_001145319.2(PLS1):c.1846G>A (p.Val616Met)	PLS1 (V616M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289276	NM_001145319.2(PLS1):c.1629+106A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288756	NM_001145319.2(PLS1):c.235-210A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283017	NM_001145319.2(PLS1):c.981+130T>C	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281629	NM_001145319.2(PLS1):c.1256+18C>T	PLS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1277792	NM_001145319.2(PLS1):c.364+174C>A	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276295	NM_001145319.2(PLS1):c.647C>T (p.Ser216Leu)	PLS1 (S216L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1269882	NM_001145319.2(PLS1):c.234+124_234+125del	PLS1	Deletion (intron variant)	not provided	GBenign
Select item 1269597	NM_001145319.2(PLS1):c.1371+161G>A	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268255	NM_001145319.2(PLS1):c.1629+245del	PLS1	Deletion (intron variant)	not provided	GBenign
Select item 1264931	NM_001145319.2(PLS1):c.982-188ATAA[8]	PLS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1263995	NM_001145319.2(PLS1):c.70+169G>A	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263460	NM_001145319.2(PLS1):c.438A>G (p.Ile146Met)	PLS1 (I146M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1261829	NM_001145319.2(PLS1):c.982-188ATAA[9]	PLS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1257881	NM_001145319.2(PLS1):c.-36-49A>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253042	NM_001145319.2(PLS1):c.309T>G (p.Thr103=)	PLS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1251898	NM_001145319.2(PLS1):c.888+178A>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249967	NM_001145319.2(PLS1):c.*151G>C	PLS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245176	NM_001145319.2(PLS1):c.579+134del	PLS1	Deletion (intron variant)	not provided	GBenign
Select item 1242340	NM_001145319.2(PLS1):c.235-166G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241932	NM_001145319.2(PLS1):c.889-59C>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240943	NM_001145319.2(PLS1):c.982-188ATAA[10]	PLS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239682	NM_001145319.2(PLS1):c.365-46A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229643	NM_001145319.2(PLS1):c.1630-172A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225941	NM_001145319.2(PLS1):c.1128G>A (p.Pro376=)	PLS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1221574	NM_001145319.2(PLS1):c.70+141G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181142	NM_001145319.2(PLS1):c.364+37G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 791956	NM_001145319.2(PLS1):c.888+5A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789716	NM_001145319.2(PLS1):c.1875G>T (p.Leu625=)	PLS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 770893	NM_001145319.2(PLS1):c.954C>T (p.Ala318=)	PLS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 709077	NM_001145319.2(PLS1):c.1024G>A (p.Ala342Thr)	PLS1 (A342T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 637056	NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg)	PLS1 (L238R)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 633603	NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)	PLS1 (F128S)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 632608	NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)	PLS1 (E269K)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 76 +1 more	GConflicting classifications of pathogenicity
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 590932	NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)	PLS1 (L363F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 503573	GRCh37/hg19 3q23(chr3:142272098-142691972)x3	ATR, PAQR9 +3 more	Copy number gain	See cases	GUncertain significance

<< First< Prev

Page of 2