ClinVar for Gene (Select 9683) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3170569	NM_153029.4(N4BP1):c.814G>A (p.Asp272Asn)	N4BP1 (D272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3170553	NM_153029.4(N4BP1):c.755A>G (p.Asp252Gly)	N4BP1 (D252G)	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
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 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 3170504	NM_153029.4(N4BP1):c.1756A>G (p.Ile586Val)	N4BP1 (I586V)	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 3170470	NM_153029.4(N4BP1):c.1253C>T (p.Thr418Ile)	N4BP1 (T418I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2646501	NM_153029.4(N4BP1):c.2441G>A (p.Arg814Gln)	N4BP1 (R814Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2546669	NM_153029.4(N4BP1):c.1118C>T (p.Pro373Leu)	N4BP1 (P373L)	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 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 2484337	NM_153029.4(N4BP1):c.2561C>G (p.Thr854Ser)	N4BP1 (T854S)	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 2409718	NM_153029.4(N4BP1):c.845G>A (p.Cys282Tyr)	N4BP1 (C282Y)	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 2396536	NM_153029.4(N4BP1):c.763C>T (p.Leu255Phe)	N4BP1 (L255F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2356617	NM_153029.4(N4BP1):c.1844C>T (p.Thr615Met)	N4BP1 (T615M)	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 2305993	NM_153029.4(N4BP1):c.709A>G (p.Arg237Gly)	N4BP1 (R237G)	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 2285018	NM_153029.4(N4BP1):c.245G>A (p.Cys82Tyr)	N4BP1 (C82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2253180	NM_153029.4(N4BP1):c.1402A>G (p.Ile468Val)	N4BP1 (I468V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2229866	NM_153029.4(N4BP1):c.1090G>A (p.Val364Ile)	N4BP1 (V364I)	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 2211601	NM_153029.4(N4BP1):c.1748C>G (p.Ser583Cys)	N4BP1 (S583C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809439	GRCh37/hg19 16q12.1(chr16:48440455-48916593)x3	N4BP1	Copy number gain	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 785533	NM_153029.4(N4BP1):c.1638A>G (p.Leu546=)	N4BP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442863	GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1	ABCC11, ABCC12 +23 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 59