ClinVar for Gene (Select 10613) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3048122	NM_006459.4(ERLIN1):c.75C>A (p.Ile25=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	ERLIN1-related condition	GLikely benign
Select item 3000592	NM_006459.4(ERLIN1):c.60G>C (p.Leu20=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 62	GLikely benign
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 2918207	NM_006459.4(ERLIN1):c.207A>G (p.Gln69=)	ERLIN1	Single nucleotide variant (synonymous variant +3 more)	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 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 2871381	NM_006459.4(ERLIN1):c.237A>T (p.Gly79=)	ERLIN1	Single nucleotide variant (synonymous variant +3 more)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2853693	NM_006459.4(ERLIN1):c.242+3A>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2839774	NM_006459.4(ERLIN1):c.225T>C (p.Asn75=)	ERLIN1	Single nucleotide variant (5 prime UTR variant +3 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 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 2797970	NM_006459.4(ERLIN1):c.430+15T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
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 2761405	NM_006459.4(ERLIN1):c.826-7del	ERLIN1	Deletion (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2722432	NM_006459.4(ERLIN1):c.27G>C (p.Leu9=)	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 2619504	NM_006459.4(ERLIN1):c.273A>G (p.Ile91Met)	ERLIN1 (I7M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2540243	NM_006459.4(ERLIN1):c.110A>G (p.Tyr37Cys)	ERLIN1 (Y37C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2500861	NM_006459.4(ERLIN1):c.196-1G>A	ERLIN1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary spastic paraplegia 62	GPathogenic
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 2425597	NC_000010.10:g.(?_101915882)_(101927183_?)del	ERLIN1	Deletion	Hereditary spastic paraplegia 62	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	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 2404938	NM_006459.4(ERLIN1):c.155A>G (p.His52Arg)	ERLIN1 (H52R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2336573	NM_006459.4(ERLIN1):c.728G>T (p.Arg243Leu)	ERLIN1 (R159L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264489	NM_006459.4(ERLIN1):c.167C>T (p.Pro56Leu)	ERLIN1 (P56L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
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 2197199	NM_006459.4(ERLIN1):c.430+20T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
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 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 2174083	NM_006459.4(ERLIN1):c.160A>G (p.Met54Val)	ERLIN1 (M54V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2164315	NM_006459.4(ERLIN1):c.114-16A>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 2159668	NM_006459.4(ERLIN1):c.179C>T (p.Thr60Met)	ERLIN1 (T60M)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 62	GUncertain significance
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 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 2156544	NM_006459.4(ERLIN1):c.196-4C>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
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 2088035	NM_006459.4(ERLIN1):c.907A>G (p.Ile303Val)	ERLIN1 (I143V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 62	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 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 2061862	NM_006459.4(ERLIN1):c.198A>G (p.Thr66=)	ERLIN1	Single nucleotide variant (synonymous variant +3 more)	Hereditary spastic paraplegia 62	GLikely benign
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 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 2051439	NM_006459.4(ERLIN1):c.760G>T (p.Ala254Ser)	ERLIN1 (A254S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2050156	NM_006459.4(ERLIN1):c.113+14G>T	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
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 2028650	NM_006459.4(ERLIN1):c.243-5T>C	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
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 1963890	NM_006459.4(ERLIN1):c.504+8C>A	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1957883	NM_006459.4(ERLIN1):c.113+16A>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1914299	NM_006459.4(ERLIN1):c.113+20A>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
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	GUncertain significance
Select item 1703399	NM_006459.4(ERLIN1):c.826-237del	ERLIN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1693026	NM_006459.4(ERLIN1):c.826-157G>A	ERLIN1	Single nucleotide variant (intron variant)	not provided	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 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 1651190	NM_006459.4(ERLIN1):c.114-19T>A	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
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 1637266	NM_006459.4(ERLIN1):c.430+16C>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1600535	NM_006459.4(ERLIN1):c.243-19T>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GBenign
Select item 1600126	NM_006459.4(ERLIN1):c.656-20_656-18del	ERLIN1, LOC130004518	Microsatellite (intron variant)	Hereditary spastic paraplegia 62	GBenign
Select item 1574311	NM_006459.4(ERLIN1):c.242+20A>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1569129	NM_006459.4(ERLIN1):c.195+11C>G	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	GLikely benign
Select item 1568984	NM_006459.4(ERLIN1):c.114-17G>A	ERLIN1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 62	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 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 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 1512248	NM_006459.4(ERLIN1):c.317T>C (p.Val106Ala)	ERLIN1 (V106A +1 more)	Single nucleotide variant (5 prime UTR variant +2 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 1491893	NM_006459.4(ERLIN1):c.284A>G (p.Asn95Ser)	ERLIN1 (N11S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
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 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 1434738	NM_006459.4(ERLIN1):c.178A>G (p.Thr60Ala)	ERLIN1 (T60A)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 62	GUncertain significance
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 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 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 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 1395987	NM_006459.4(ERLIN1):c.76C>G (p.His26Asp)	ERLIN1 (H26D)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 62	GUncertain significance
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 1351159	NM_006459.4(ERLIN1):c.856A>C (p.Lys286Gln)	ERLIN1 (K202Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 62 +1 more	GUncertain significance
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 1344930	NM_006459.4(ERLIN1):c.825+73A>G	ERLIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1344327	NM_006459.4(ERLIN1):c.893A>G (p.Tyr298Cys)	ERLIN1 (Y138C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	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 62 +1 more	GConflicting classifications of pathogenicity
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 1344324	NM_006459.4(ERLIN1):c.315C>T (p.Ile105=)	ERLIN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 62 +1 more	GConflicting classifications of pathogenicity
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 1331291	NM_006459.4(ERLIN1):c.-385G>C	ERLIN1, LOC130004521	Single nucleotide variant (5 prime UTR variant +1 more)	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 1321515	NM_006459.4(ERLIN1):c.243-124C>T	ERLIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305963	NM_006459.4(ERLIN1):c.430+3_430+6del	ERLIN1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1300718	NM_006459.4(ERLIN1):c.196-212del	ERLIN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1293447	NM_006459.4(ERLIN1):c.431-49dup	ERLIN1	Duplication (intron variant)	not provided	GBenign
Select item 1293397	NM_006459.4(ERLIN1):c.243-183A>T	ERLIN1	Single nucleotide variant (intron variant)	not provided	GBenign

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