ClinVar for Gene (Select 57486) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299975	NM_020726.5(NLN):c.895C>T (p.His299Tyr)	NLN (H299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299972	NM_020726.5(NLN):c.1510C>T (p.His504Tyr)	NLN (H504Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299971	NM_020726.5(NLN):c.1702C>A (p.Leu568Met)	NLN (L568M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299970	NM_020726.5(NLN):c.830C>G (p.Thr277Ser)	NLN (T277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299969	NM_020726.5(NLN):c.386T>C (p.Leu129Pro)	NLN (L129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299968	NM_020726.5(NLN):c.1357G>C (p.Gly453Arg)	NLN (G453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299967	NM_020726.5(NLN):c.391C>T (p.Arg131Cys)	NLN (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299966	NM_020726.5(NLN):c.392G>A (p.Arg131His)	NLN (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200454	NM_020726.5(NLN):c.985T>G (p.Leu329Val)	NLN (L329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200453	NM_020726.5(NLN):c.892A>T (p.Thr298Ser)	NLN (T298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200452	NM_020726.5(NLN):c.875A>G (p.Lys292Arg)	NLN (K292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200450	NM_020726.5(NLN):c.785G>T (p.Arg262Ile)	NLN (R262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200449	NM_020726.5(NLN):c.368C>G (p.Thr123Arg)	NLN (T123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200448	NM_020726.5(NLN):c.1730G>C (p.Arg577Pro)	NLN (R577P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200447	NM_020726.5(NLN):c.1673A>T (p.Asp558Val)	NLN (D558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200445	NM_020726.5(NLN):c.1504G>A (p.Val502Met)	NLN (V502M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200444	NM_020726.5(NLN):c.1450C>T (p.Pro484Ser)	NLN (P484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200443	NM_020726.5(NLN):c.1417G>A (p.Val473Met)	NLN (V473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3062872	GRCh37/hg19 5q12.3(chr5:64936781-65838741)x1	ERBIN, NLN +3 more	Copy number loss	not specified	GUncertain significance
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2600035	NM_020726.5(NLN):c.2063G>A (p.Arg688His)	NLN (R688H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527296	NM_020726.5(NLN):c.1628G>A (p.Arg543Gln)	NLN (R543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518105	NM_020726.5(NLN):c.106G>A (p.Ala36Thr)	NLN (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478446	NM_020726.5(NLN):c.233T>G (p.Leu78Arg)	NLN (L78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476979	NM_020726.5(NLN):c.2095A>G (p.Arg699Gly)	NLN (R699G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468238	NM_020726.5(NLN):c.1735A>G (p.Ile579Val)	NLN (I579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468090	NM_020726.5(NLN):c.1509G>A (p.Met503Ile)	NLN (M503I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465656	NM_020726.5(NLN):c.460G>A (p.Asp154Asn)	NLN (D154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463912	NM_020726.5(NLN):c.1172A>G (p.Glu391Gly)	NLN (E391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406941	NM_020726.5(NLN):c.1549G>C (p.Gly517Arg)	NLN (G517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392376	NM_020726.5(NLN):c.161C>T (p.Pro54Leu)	NLN (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392087	NM_020726.5(NLN):c.1468G>A (p.Asp490Asn)	NLN (D490N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380204	NM_020726.5(NLN):c.359C>A (p.Ala120Glu)	NLN (A120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369082	NM_020726.5(NLN):c.940C>T (p.Arg314Cys)	NLN (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358125	NM_020726.5(NLN):c.1615G>A (p.Val539Ile)	NLN (V539I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326825	NM_020726.5(NLN):c.1316T>A (p.Leu439His)	NLN (L439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323037	NM_020726.5(NLN):c.71T>C (p.Met24Thr)	NLN (M24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322474	NM_020726.5(NLN):c.302T>A (p.Val101Glu)	NLN (V101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308761	NM_020726.5(NLN):c.2058G>C (p.Leu686Phe)	NLN (L686F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304219	NM_020726.5(NLN):c.809C>T (p.Thr270Ile)	NLN (T270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281845	NM_020726.5(NLN):c.1256C>A (p.Thr419Lys)	NLN (T419K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273577	NM_020726.5(NLN):c.1855C>T (p.Pro619Ser)	NLN (P619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263914	NM_020726.5(NLN):c.776A>C (p.Glu259Ala)	NLN (E259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249938	NM_020726.5(NLN):c.1558G>T (p.Val520Leu)	NLN (V520L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248340	NM_020726.5(NLN):c.1394G>A (p.Arg465Gln)	NLN (R465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236804	NM_020726.5(NLN):c.124G>A (p.Val42Met)	NLN (V42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222401	NM_020726.5(NLN):c.217G>A (p.Asp73Asn)	NLN (D73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205605	NM_020726.5(NLN):c.1737T>G (p.Ile579Met)	NLN (I579M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1456117	NC_000005.9:g.(?_63256278)_(65374358_?)del	ADAMTS6, CENPK +12 more	Deletion	not provided	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 769299	NM_020726.5(NLN):c.1527+15del	NLN	Deletion (intron variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 151651	GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1	ADAMTS6, CENPK +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146452	GRCh38/hg38 5q12.3(chr5:65211728-66746761)x3	ADAMTS6, CENPK +41 more	Copy number gain	See cases	GUncertain significance
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

Types of conflicts

Molecular consequence

Variation type

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Links from Gene

Items: 64