"Ambry Genetics"[submitter] AND "N4BP1"[gene] - ClinVar

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2280593	NM_153029.4(N4BP1):c.2639C>G (p.Ala880Gly)	N4BP1 (A880G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484337	NM_153029.4(N4BP1):c.2561C>G (p.Thr854Ser)	N4BP1 (T854S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170531	NM_153029.4(N4BP1):c.2536C>T (p.Pro846Ser)	N4BP1 (P846S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224031	NM_153029.4(N4BP1):c.2435C>T (p.Pro812Leu)	N4BP1 (P812L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558146	NM_153029.4(N4BP1):c.2423G>A (p.Ser808Asn)	N4BP1 (S808N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553783	NM_153029.4(N4BP1):c.2344C>T (p.Pro782Ser)	N4BP1 (P782S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541588	NM_153029.4(N4BP1):c.1864A>T (p.Ile622Leu)	N4BP1 (I622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356617	NM_153029.4(N4BP1):c.1844C>T (p.Thr615Met)	N4BP1 (T615M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170504	NM_153029.4(N4BP1):c.1756A>G (p.Ile586Val)	N4BP1 (I586V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211601	NM_153029.4(N4BP1):c.1748C>G (p.Ser583Cys)	N4BP1 (S583C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336958	NM_153029.4(N4BP1):c.1654C>T (p.Pro552Ser)	N4BP1 (P552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399695	NM_153029.4(N4BP1):c.1546C>T (p.Pro516Ser)	N4BP1 (P516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252152	NM_153029.4(N4BP1):c.1484C>G (p.Ser495Cys)	N4BP1 (S495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170479	NM_153029.4(N4BP1):c.1429T>A (p.Ser477Thr)	N4BP1 (S477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253180	NM_153029.4(N4BP1):c.1402A>G (p.Ile468Val)	N4BP1 (I468V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170470	NM_153029.4(N4BP1):c.1253C>T (p.Thr418Ile)	N4BP1 (T418I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546669	NM_153029.4(N4BP1):c.1118C>T (p.Pro373Leu)	N4BP1 (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229866	NM_153029.4(N4BP1):c.1090G>A (p.Val364Ile)	N4BP1 (V364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170462	NM_153029.4(N4BP1):c.1024A>G (p.Thr342Ala)	N4BP1 (T342A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170579	NM_153029.4(N4BP1):c.934G>A (p.Asp312Asn)	N4BP1 (D312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170575	NM_153029.4(N4BP1):c.861T>G (p.Phe287Leu)	N4BP1 (F287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409718	NM_153029.4(N4BP1):c.845G>A (p.Cys282Tyr)	N4BP1 (C282Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170569	NM_153029.4(N4BP1):c.814G>A (p.Asp272Asn)	N4BP1 (D272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292234	NM_153029.4(N4BP1):c.782T>C (p.Val261Ala)	N4BP1 (V261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396536	NM_153029.4(N4BP1):c.763C>T (p.Leu255Phe)	N4BP1 (L255F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170553	NM_153029.4(N4BP1):c.755A>G (p.Asp252Gly)	N4BP1 (D252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305993	NM_153029.4(N4BP1):c.709A>G (p.Arg237Gly)	N4BP1 (R237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476592	NM_153029.4(N4BP1):c.314A>T (p.Asp105Val)	N4BP1 (D105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361678	NM_153029.4(N4BP1):c.286A>G (p.Ser96Gly)	N4BP1 (S96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285018	NM_153029.4(N4BP1):c.245G>A (p.Cys82Tyr)	N4BP1 (C82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170518	NM_153029.4(N4BP1):c.188A>C (p.His63Pro)	LOC130058963, N4BP1 (H63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170510	NM_153029.4(N4BP1):c.182C>A (p.Ala61Glu)	LOC130058963, N4BP1 (A61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605873	NM_153029.4(N4BP1):c.170G>A (p.Gly57Glu)	LOC130058963, N4BP1 (G57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534296	NM_153029.4(N4BP1):c.167G>T (p.Cys56Phe)	LOC130058963, N4BP1 (C56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534295	NM_153029.4(N4BP1):c.166T>C (p.Cys56Arg)	LOC130058963, N4BP1 (C56R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170563	NM_153029.4(N4BP1):c.79A>C (p.Ile27Leu)	LOC130058963, N4BP1 (I27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170545	NM_153029.4(N4BP1):c.67A>G (p.Ser23Gly)	LOC130058963, N4BP1 (S23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37