ERLIN1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 155

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 1344323	NM_006459.4(ERLIN1):c.*1251A>G	ERLIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344322	NM_006459.4(ERLIN1):c.*1247T>C	ERLIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1239192	NM_006459.4(ERLIN1):c.*213A>G	ERLIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia +1 more	GBenign/Likely benign
Select item 1473777	NM_006459.4(ERLIN1):c.1037G>A (p.Ser346Asn)	ERLIN1 (S262N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2817283	NM_006459.4(ERLIN1):c.1036A>C (p.Ser346Arg)	ERLIN1 (S186R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2058088	NM_006459.4(ERLIN1):c.1026A>G (p.Gln342=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2441297	NM_006459.4(ERLIN1):c.1018G>A (p.Val340Ile)	ERLIN1 (V180I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1042966	NM_006459.4(ERLIN1):c.1015A>G (p.Asn339Asp)	ERLIN1 (N339D +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1654174	NM_006459.4(ERLIN1):c.966A>G (p.Gly322=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2088035	NM_006459.4(ERLIN1):c.907A>G (p.Ile303Val)	ERLIN1 (I143V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1344327	NM_006459.4(ERLIN1):c.893A>G (p.Tyr298Cys)	ERLIN1 (Y138C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1413885	NM_006459.4(ERLIN1):c.878C>A (p.Ser293Tyr)	ERLIN1 (S209Y +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1896355	NM_006459.4(ERLIN1):c.874G>T (p.Ala292Ser)	ERLIN1 (A208S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62 +1 more	GUncertain significance
Select item 1167054	NM_006459.4(ERLIN1):c.871A>G (p.Ile291Val)	ERLIN1 (I131V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62 +1 more	GBenign
Select item 1351159	NM_006459.4(ERLIN1):c.856A>C (p.Lys286Gln)	ERLIN1 (K202Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3276380	NM_006459.4(ERLIN1):c.848T>C (p.Leu283Pro)	ERLIN1 (L123P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2156798	NM_006459.4(ERLIN1):c.840G>A (p.Pro280=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 3276378	NM_006459.4(ERLIN1):c.836C>T (p.Thr279Ile)	ERLIN1 (T195I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2761405	NM_006459.4(ERLIN1):c.826-7del	ERLIN1	Deletion (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1293005	NM_006459.4(ERLIN1):c.826-85G>A	ERLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693026	NM_006459.4(ERLIN1):c.826-157G>A	ERLIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703399	NM_006459.4(ERLIN1):c.826-237del	ERLIN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1329597	NM_006459.4(ERLIN1):c.825+191G>A	ERLIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1344930	NM_006459.4(ERLIN1):c.825+73A>G	ERLIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183221	NM_006459.4(ERLIN1):c.825+31dup	ERLIN1	Duplication (intron variant)	not provided	GBenign
Select item 2765689	NM_006459.4(ERLIN1):c.825+8G>A	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1531819	NM_006459.4(ERLIN1):c.813C>T (p.Ala271=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2892467	NM_006459.4(ERLIN1):c.810T>C (p.Tyr270=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1425746	NM_006459.4(ERLIN1):c.799G>A (p.Ala267Thr)	ERLIN1 (A107T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1102035	NM_006459.4(ERLIN1):c.789A>G (p.Glu263=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62 +1 more	GConflicting classifications of pathogenicity
Select item 2158216	NM_006459.4(ERLIN1):c.774G>A (p.Ala258=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 476196	NM_006459.4(ERLIN1):c.773C>T (p.Ala258Val)	ERLIN1 (A258V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62 +1 more	GUncertain significance
Select item 226426	NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter)	ERLIN1 (R255* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1344326	NM_006459.4(ERLIN1):c.762C>A (p.Ala254=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2051439	NM_006459.4(ERLIN1):c.760G>T (p.Ala254Ser)	ERLIN1 (A254S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1344325	NM_006459.4(ERLIN1):c.753del (p.Phe252fs)	ERLIN1 (F168fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 2201525	NM_006459.4(ERLIN1):c.746-9A>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1236302	NM_006459.4(ERLIN1):c.745+273G>A	ERLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2194662	NM_006459.4(ERLIN1):c.745+18G>A	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1114141	NM_006459.4(ERLIN1):c.745+10G>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1349898	NM_006459.4(ERLIN1):c.745+5A>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2417562	NM_006459.4(ERLIN1):c.741C>G (p.Ile247Met)	ERLIN1 (I163M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1143597	NM_006459.4(ERLIN1):c.741C>T (p.Ile247=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2336573	NM_006459.4(ERLIN1):c.728G>T (p.Arg243Leu)	ERLIN1 (R159L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1402119	NM_006459.4(ERLIN1):c.728G>A (p.Arg243His)	ERLIN1 (R159H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 3090282	NM_006459.4(ERLIN1):c.716A>C (p.Glu239Ala)	ERLIN1 (E155A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2145507	NM_006459.4(ERLIN1):c.713A>T (p.Lys238Ile)	ERLIN1 (K78I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1500905	NM_006459.4(ERLIN1):c.689G>A (p.Arg230Gln)	ERLIN1 (R230Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1491903	NM_006459.4(ERLIN1):c.688C>T (p.Arg230Trp)	ERLIN1 (R70W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1081411	NM_006459.4(ERLIN1):c.678G>C (p.Val226=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2825964	NM_006459.4(ERLIN1):c.669T>C (p.Ile223=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2062274	NM_006459.4(ERLIN1):c.668T>C (p.Ile223Thr)	ERLIN1 (I139T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1600126	NM_006459.4(ERLIN1):c.656-20_656-18del	ERLIN1, LOC130004518	Microsatellite (intron variant)	Hereditary spastic paraplegia 62	GBenign
Select item 2960318	NM_006459.4(ERLIN1):c.655+17G>A	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1373878	NM_006459.4(ERLIN1):c.653T>C (p.Ile218Thr)	ERLIN1 (I218T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 639284	NM_006459.4(ERLIN1):c.610G>A (p.Val204Ile)	ERLIN1 (V204I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2060781	NM_006459.4(ERLIN1):c.609G>C (p.Lys203Asn)	ERLIN1 (K119N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1144769	NM_006459.4(ERLIN1):c.588T>C (p.Leu196=)	ERLIN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 62 +1 more	GLikely benign
Select item 1538165	NM_006459.4(ERLIN1):c.564-20_564-18del	ERLIN1	Deletion (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2905451	NM_006459.4(ERLIN1):c.564-20T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1257662	NM_006459.4(ERLIN1):c.563+113del	ERLIN1	Deletion (intron variant)	not provided	GBenign
Select item 1268064	NM_006459.4(ERLIN1):c.563+58T>C	ERLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2024548	NM_006459.4(ERLIN1):c.563+1G>A	ERLIN1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1283752	NM_006459.4(ERLIN1):c.505-305C>T	ERLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1639249	NM_006459.4(ERLIN1):c.504+13C>T	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1963890	NM_006459.4(ERLIN1):c.504+8C>A	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1416413	NM_006459.4(ERLIN1):c.496A>G (p.Thr166Ala)	ERLIN1 (T6A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62 +1 more	GUncertain significance
Select item 2604312	NM_006459.4(ERLIN1):c.487C>T (p.Pro163Ser)	ERLIN1 (P3S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2190593	NM_006459.4(ERLIN1):c.480C>A (p.Leu160=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 946835	NM_006459.4(ERLIN1):c.471C>G (p.Asp157Glu)	ERLIN1 (D157E +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1512511	NM_006459.4(ERLIN1):c.451A>G (p.Lys151Glu)	ERLIN1 (K151E +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1109255	NM_006459.4(ERLIN1):c.450G>C (p.Leu150=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2718373	NM_006459.4(ERLIN1):c.431-13G>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1293447	NM_006459.4(ERLIN1):c.431-49dup	ERLIN1	Duplication (intron variant)	not provided	GBenign
Select item 1226275	NM_006459.4(ERLIN1):c.431-197G>A	ERLIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2197199	NM_006459.4(ERLIN1):c.430+20T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1637266	NM_006459.4(ERLIN1):c.430+16C>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2797970	NM_006459.4(ERLIN1):c.430+15T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1305963	NM_006459.4(ERLIN1):c.430+3_430+6del	ERLIN1	Deletion (splice donor variant)	Hereditary spastic paraplegia 62 +1 more	GUncertain significance
Select item 663064	NM_006459.4(ERLIN1):c.430+4A>T	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2048538	NM_006459.4(ERLIN1):c.372T>C (p.His124=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 704910	NM_006459.4(ERLIN1):c.369C>T (p.His123=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1512248	NM_006459.4(ERLIN1):c.317T>C (p.Val106Ala)	ERLIN1 (V106A +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1344324	NM_006459.4(ERLIN1):c.315C>T (p.Ile105=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 806556	NM_006459.4(ERLIN1):c.305-7C>T	ERLIN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1491893	NM_006459.4(ERLIN1):c.284A>G (p.Asn95Ser)	ERLIN1 (N11S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 873226	NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala)	ERLIN1 (V10A +1 more)	Single nucleotide variant (missense variant +2 more)	Juvenile amyotrophic lateral sclerosis	GPathogenic
Select item 703858	NM_006459.4(ERLIN1):c.276A>G (p.Glu92=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 62 +2 more	GBenign/Likely benign
Select item 2619504	NM_006459.4(ERLIN1):c.273A>G (p.Ile91Met)	ERLIN1 (I7M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2071736	NM_006459.4(ERLIN1):c.269G>A (p.Arg90Gln)	ERLIN1 (R90Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 1447973	NM_006459.4(ERLIN1):c.269G>T (p.Arg90Leu)	ERLIN1 (R90L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2028650	NM_006459.4(ERLIN1):c.243-5T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1667812	NM_006459.4(ERLIN1):c.243-17T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1228607	NM_006459.4(ERLIN1):c.243-18T>C	ERLIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1600535	NM_006459.4(ERLIN1):c.243-19T>G	ERLIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1228765	NM_006459.4(ERLIN1):c.243-70C>T	ERLIN1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2