6253[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 285

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 329541	NM_005619.5(RTN2):c.*344C>T	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 329542	NM_005619.5(RTN2):c.*300G>C	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 329543	NM_005619.5(RTN2):c.*270C>T	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 329544	NM_005619.5(RTN2):c.*217G>A	RTN2	Single nucleotide variant (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 329545	NM_005619.5(RTN2):c.*148G>A	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 329546	NM_005619.5(RTN2):c.*51T>C	RTN2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 12	GLikely benign
Select item 2722338	NM_005619.5(RTN2):c.1621AAAGCC[1] (p.541KA[1])	RTN2	Microsatellite (inframe_deletion)	Spastic paraplegia	GUncertain significance
Select item 653220	NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)	RTN2 (A471T +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 2852640	NM_005619.5(RTN2):c.1624G>T (p.Ala542Ser)	RTN2 (A469S +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 841510	NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro)	RTN2 (S540P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893520	NM_005619.5(RTN2):c.1607C>T (p.Ala536Val)	RTN2 (A536V +2 more)	Single nucleotide variant (missense variant)	RTN2-related disorder +2 more	GLikely benign
Select item 1096827	NM_005619.5(RTN2):c.1605C>T (p.Ala535=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 329547	NM_005619.5(RTN2):c.1593C>T (p.Ala531=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 849447	NM_005619.5(RTN2):c.1585G>A (p.Ala529Thr)	RTN2 (A456T +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 793899	NM_005619.5(RTN2):c.1572C>T (p.Ile524=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2628393	NM_005619.5(RTN2):c.1564G>T (p.Ala522Ser)	RTN2 (A182S +2 more)	Single nucleotide variant (missense variant)	RTN2-related disorder	GUncertain significance
Select item 2768298	NM_005619.5(RTN2):c.1560C>G (p.Ile520Met)	RTN2 (I180M +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 938645	NM_005619.5(RTN2):c.1557G>A (p.Lys519=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 968137	NM_005619.5(RTN2):c.1535A>G (p.Gln512Arg)	RTN2 (Q172R +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1596008	NM_005619.5(RTN2):c.1521G>A (p.Gly507=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3069048	NM_005619.5(RTN2):c.1507G>A (p.Asp503Asn)	RTN2 (D163N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2069241	NM_005619.5(RTN2):c.1506C>T (p.Ile502=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 677525	NM_005619.5(RTN2):c.1498-102C>A	RTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326798	NM_005619.5(RTN2):c.1498-118G>C	RTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670893	NM_005619.5(RTN2):c.1497+93C>G	RTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 704505	NM_005619.5(RTN2):c.1497+7G>T	RTN2	Single nucleotide variant (intron variant)	RTN2-related disorder +1 more	GLikely benign
Select item 893521	NM_005619.5(RTN2):c.1497+3G>A	RTN2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 994450	NM_005619.5(RTN2):c.1497+2T>C	RTN2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2047472	NM_005619.5(RTN2):c.1493A>G (p.His498Arg)	RTN2 (H425R +2 more)	Single nucleotide variant (missense variant)	RTN2-related disorder +1 more	GLikely benign
Select item 546847	NM_005619.5(RTN2):c.1490A>C (p.Gln497Pro)	RTN2 (Q497P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3315699	NM_005619.5(RTN2):c.1487G>A (p.Arg496Gln)	RTN2 (R423Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 863829	NM_005619.5(RTN2):c.1487G>T (p.Arg496Leu)	RTN2 (R496L +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2267266	NM_005619.5(RTN2):c.1486C>T (p.Arg496Trp)	RTN2 (R423W +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1343963	NM_005619.5(RTN2):c.1484A>G (p.Tyr495Cys)	RTN2 (Y155C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 805277	NM_005619.5(RTN2):c.1476C>G (p.Pro492=)	RTN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 699158	NM_005619.5(RTN2):c.1473C>A (p.Ile491=)	RTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534295	NM_005619.5(RTN2):c.1462C>T (p.Leu488=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2310046	NM_005619.5(RTN2):c.1453G>A (p.Val485Met)	RTN2 (V145M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 696767	NM_005619.5(RTN2):c.1451-7C>T	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2138050	NM_005619.5(RTN2):c.1451-20C>T	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 668281	NM_005619.5(RTN2):c.1450+17G>A	RTN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 893522	NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr)	RTN2 (I401T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 2535790	NM_005619.5(RTN2):c.1418C>G (p.Ala473Gly)	RTN2 (A473G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338126	NM_005619.5(RTN2):c.1417G>A (p.Ala473Thr)	RTN2 (A400T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309934	NM_005619.5(RTN2):c.1411G>T (p.Val471Leu)	RTN2 (V131L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 458237	NM_005619.5(RTN2):c.1411G>A (p.Val471Met)	RTN2 (V471M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396654	NM_005619.5(RTN2):c.1399A>T (p.Ile467Phe)	RTN2 (I127F +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2138403	NM_005619.5(RTN2):c.1381-5C>T	RTN2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 329548	NM_005619.5(RTN2):c.1381-12del	RTN2	Deletion (intron variant)	Spastic paraplegia, autosomal dominant +2 more	GBenign/Likely benign
Select item 1899659	NM_005619.5(RTN2):c.1381-19C>A	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 1183266	NM_005619.5(RTN2):c.1380+31T>C	RTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507102	NM_005619.5(RTN2):c.1380+7del	RTN2	Deletion (intron variant)	not specified	GLikely benign
Select item 1474923	NM_005619.5(RTN2):c.1380+1G>T	RTN2	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GLikely pathogenic
Select item 527997	NM_005619.5(RTN2):c.1375C>T (p.Leu459Phe)	RTN2 (L459F +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 448173	NM_005619.5(RTN2):c.1366G>A (p.Val456Met)	RTN2 (V456M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807055	NM_005619.5(RTN2):c.1341G>C (p.Arg447=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1445728	NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln)	RTN2 (R107Q +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 893523	NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp)	RTN2 (R107W +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 1133365	NM_005619.5(RTN2):c.1332G>A (p.Thr444=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1379063	NM_005619.5(RTN2):c.1326G>A (p.Ala442=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 773992	NM_005619.5(RTN2):c.1325C>T (p.Ala442Val)	RTN2 (A369V +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1986607	NM_005619.5(RTN2):c.1323G>A (p.Ser441=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 805276	NM_005619.5(RTN2):c.1322C>T (p.Ser441Leu)	RTN2 (S101L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233982	NM_005619.5(RTN2):c.1315G>A (p.Val439Met)	RTN2 (V366M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2135413	NM_005619.5(RTN2):c.1313G>A (p.Arg438His)	RTN2 (R98H +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 448172	NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys)	RTN2 (R438C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 697995	NM_005619.5(RTN2):c.1305C>T (p.Ile435=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1907195	NM_005619.5(RTN2):c.1288C>T (p.Arg430Cys)	RTN2 (R357C +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2650113	NM_005619.5(RTN2):c.1284G>A (p.Thr428=)	RTN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2884189	NM_005619.5(RTN2):c.1283C>T (p.Thr428Met)	RTN2 (T88M +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 580629	NM_005619.5(RTN2):c.1283C>A (p.Thr428Lys)	RTN2 (T428K +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 448171	NM_005619.5(RTN2):c.1274G>A (p.Arg425Gln)	RTN2 (R425Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2193792	NM_005619.5(RTN2):c.1273C>T (p.Arg425Trp)	RTN2 (R352W +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 1041679	NM_005619.5(RTN2):c.1259A>G (p.Asp420Gly)	RTN2 (D347G +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2174846	NM_005619.5(RTN2):c.1254T>A (p.Asp418Glu)	RTN2 (D418E +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2742070	NM_005619.5(RTN2):c.1251G>A (p.Leu417=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2151534	NM_005619.5(RTN2):c.1242G>A (p.Gln414=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1092453	NM_005619.5(RTN2):c.1242-4G>T	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 669143	NM_005619.5(RTN2):c.1242-137A>G	RTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289495	NM_005619.5(RTN2):c.1242-168TGACCC[4]	RTN2	Microsatellite (intron variant)	not provided	GBenign
Select item 677524	NM_005619.5(RTN2):c.1241+60C>T	RTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509720	NM_005619.5(RTN2):c.1241+12C>T	RTN2	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 893524	NM_005619.5(RTN2):c.1241+3G>A	RTN2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 1080494	NM_005619.5(RTN2):c.1239C>T (p.Phe413=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 649250	NM_005619.5(RTN2):c.1233C>G (p.Asn411Lys)	RTN2 (N338K +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2151604	NM_005619.5(RTN2):c.1230C>T (p.Ala410=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2058251	NM_005619.5(RTN2):c.1220G>A (p.Gly407Glu)	RTN2 (G407E +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3255562	NM_005619.5(RTN2):c.1216dup (p.Arg406fs)	PPM1N, RTN2 (R333fs +2 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 1343962	NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)	RTN2 (R333Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1148482	NM_005619.5(RTN2):c.1217G>C (p.Arg406Pro)	RTN2 (R333P +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 458236	NM_005619.5(RTN2):c.1216C>T (p.Arg406Trp)	RTN2 (R406W +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2063421	NM_005619.5(RTN2):c.1213C>T (p.His405Tyr)	RTN2 (H332Y +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 448170	NM_005619.5(RTN2):c.1210G>A (p.Val404Met)	RTN2 (V404M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 698022	NM_005619.5(RTN2):c.1209C>T (p.Ala403=)	RTN2	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2435490	NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)	RTN2 (R325G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 2683507	NM_005619.5(RTN2):c.1185G>C (p.Arg395Ser)	RTN2 (R322S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3