NEDD1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2466100	NM_152905.4(NEDD1):c.-6G>A	NEDD1 (A6T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207299	NM_152905.4(NEDD1):c.262A>T (p.Thr88Ser)	NEDD1 (T95S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190465	NM_152905.4(NEDD1):c.266C>G (p.Ser89Cys)	NEDD1 (S89C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309481	NM_152905.4(NEDD1):c.377C>T (p.Thr126Ile)	NEDD1 (T133I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373447	NM_152905.4(NEDD1):c.400A>G (p.Ile134Val)	NEDD1 (I141V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513572	NM_152905.4(NEDD1):c.436C>T (p.His146Tyr)	NEDD1 (H153Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525927	NM_152905.4(NEDD1):c.481A>G (p.Ser161Gly)	NEDD1 (S161G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190476	NM_152905.4(NEDD1):c.491C>T (p.Ser164Phe)	NEDD1 (S164F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305864	NM_152905.4(NEDD1):c.499C>A (p.His167Asn)	NEDD1 (H78N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305865	NM_152905.4(NEDD1):c.500A>C (p.His167Pro)	NEDD1 (H174P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345402	NM_152905.4(NEDD1):c.512C>G (p.Ser171Cys)	NEDD1 (S171C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309554	NM_152905.4(NEDD1):c.577A>G (p.Asn193Asp)	NEDD1 (N193D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356479	NM_152905.4(NEDD1):c.607A>G (p.Ser203Gly)	NEDD1 (S203G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190487	NM_152905.4(NEDD1):c.769A>G (p.Met257Val)	NEDD1 (M168V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539425	NM_152905.4(NEDD1):c.805C>T (p.Arg269Trp)	NEDD1 (R180W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190497	NM_152905.4(NEDD1):c.831A>C (p.Leu277Phe)	NEDD1 (L277F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544645	NM_152905.4(NEDD1):c.855G>C (p.Lys285Asn)	NEDD1 (K196N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623030	NM_152905.4(NEDD1):c.1019T>C (p.Ile340Thr)	NEDD1 (I347T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385453	NM_152905.4(NEDD1):c.1034C>T (p.Pro345Leu)	NEDD1 (P256L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489902	NM_152905.4(NEDD1):c.1037C>G (p.Ala346Gly)	NEDD1 (A257G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190413	NM_152905.4(NEDD1):c.1237A>G (p.Ile413Val)	NEDD1 (I413V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317251	NM_152905.4(NEDD1):c.1291G>C (p.Asp431His)	NEDD1 (D431H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288824	NM_152905.4(NEDD1):c.1313A>G (p.Gln438Arg)	NEDD1 (Q438R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593931	NM_152905.4(NEDD1):c.1342A>G (p.Asn448Asp)	NEDD1 (N455D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211565	NM_152905.4(NEDD1):c.1384C>T (p.Leu462Phe)	NEDD1 (L373F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527895	NM_152905.4(NEDD1):c.1433A>T (p.Asp478Val)	NEDD1 (D389V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212935	NM_152905.4(NEDD1):c.1501G>A (p.Ala501Thr)	NEDD1 (A501T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395928	NM_152905.4(NEDD1):c.1549C>A (p.Pro517Thr)	NEDD1 (P524T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487412	NM_152905.4(NEDD1):c.1562A>T (p.Gln521Leu)	NEDD1 (Q432L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190439	NM_152905.4(NEDD1):c.1609G>T (p.Ala537Ser)	NEDD1 (A448S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253114	NM_152905.4(NEDD1):c.1633A>G (p.Ile545Val)	NEDD1 (I545V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190444	NM_152905.4(NEDD1):c.1721G>A (p.Ser574Asn)	NEDD1 (S485N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190447	NM_152905.4(NEDD1):c.1735C>T (p.Arg579Trp)	NEDD1 (R579W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190451	NM_152905.4(NEDD1):c.1736G>A (p.Arg579Gln)	NEDD1 (R490Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456854	NM_152905.4(NEDD1):c.1768C>T (p.Arg590Cys)	NEDD1 (R501C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328122	NM_152905.4(NEDD1):c.1820G>A (p.Cys607Tyr)	NEDD1 (C614Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301797	NM_152905.4(NEDD1):c.1868A>T (p.His623Leu)	NEDD1 (H630L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221492	GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3	NEDD1, RMST +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44