ClinVar for Gene (Select 340371) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301005	NM_178564.4(NRBP2):c.335C>T (p.Thr112Ile)	NRBP2 (T112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301003	NM_178564.4(NRBP2):c.644G>T (p.Arg215Leu)	NRBP2 (R215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301002	NM_178564.4(NRBP2):c.653T>G (p.Leu218Arg)	NRBP2 (L218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301001	NM_178564.4(NRBP2):c.1465C>A (p.Leu489Met)	NRBP2 (L489M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301000	NM_178564.4(NRBP2):c.1463T>C (p.Phe488Ser)	NRBP2 (F488S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300999	NM_178564.4(NRBP2):c.1269C>G (p.Ile423Met)	NRBP2 (I423M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202035	NM_178564.4(NRBP2):c.773G>A (p.Gly258Glu)	NRBP2 (G258E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202034	NM_178564.4(NRBP2):c.623G>A (p.Arg208Gln)	NRBP2 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202033	NM_178564.4(NRBP2):c.487T>C (p.Phe163Leu)	NRBP2 (F163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202032	NM_178564.4(NRBP2):c.386G>T (p.Gly129Val)	NRBP2 (G129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202031	NM_178564.4(NRBP2):c.1346G>T (p.Arg449Leu)	NRBP2 (R449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202030	NM_178564.4(NRBP2):c.1345C>T (p.Arg449Trp)	NRBP2 (R449W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202029	NM_178564.4(NRBP2):c.1249T>C (p.Ser417Pro)	NRBP2 (S417P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202028	NM_178564.4(NRBP2):c.1064C>G (p.Pro355Arg)	NRBP2 (P355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202027	NM_178564.4(NRBP2):c.1037C>T (p.Ala346Val)	NRBP2 (A346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2607944	NM_178564.4(NRBP2):c.1016T>C (p.Met339Thr)	NRBP2 (M339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554920	NM_178564.4(NRBP2):c.31G>A (p.Ala11Thr)	NRBP2 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521720	NM_178564.4(NRBP2):c.1355G>A (p.Arg452Gln)	NRBP2 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519139	NM_178564.4(NRBP2):c.140G>A (p.Gly47Glu)	NRBP2 (G47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484837	NM_178564.4(NRBP2):c.294C>G (p.Asp98Glu)	NRBP2 (D98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455657	NM_178564.4(NRBP2):c.1028C>T (p.Ala343Val)	NRBP2 (A343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408449	NM_178564.4(NRBP2):c.1228C>G (p.Pro410Ala)	NRBP2 (P410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386339	NM_178564.4(NRBP2):c.1202C>T (p.Pro401Leu)	NRBP2 (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374275	NM_178564.4(NRBP2):c.520G>C (p.Gly174Arg)	NRBP2 (G174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340229	NM_178564.4(NRBP2):c.113A>C (p.Gln38Pro)	NRBP2 (Q38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285210	NM_178564.4(NRBP2):c.839G>A (p.Arg280Gln)	NRBP2 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269312	NM_178564.4(NRBP2):c.1384G>A (p.Asp462Asn)	NRBP2 (D462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266641	NM_178564.4(NRBP2):c.1489C>T (p.Arg497Cys)	NRBP2 (R497C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266444	NM_178564.4(NRBP2):c.877C>T (p.Arg293Cys)	NRBP2 (R293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257777	NM_178564.4(NRBP2):c.1222A>G (p.Lys408Glu)	NRBP2 (K408E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219503	NM_178564.4(NRBP2):c.1379C>T (p.Pro460Leu)	NRBP2 (P460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211035	NM_178564.4(NRBP2):c.1055G>A (p.Arg352His)	NRBP2 (R352H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527472	GRCh37/hg19 8q24.3(chr8:144725942-145508436)	BOP1, CCDC166 +22 more	Copy number gain	not specified	GUncertain significance
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	ADGRB1, ARC +37 more	Copy number loss	not provided	GPathogenic
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 625552	GRCh37/hg19 8q24.3(chr8:144879444-145199846)	CYC1, EPPK1 +14 more	Copy number loss	8q24.3 microdeletion syndrome	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441954	GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3	ADCK5, ARHGAP39 +50 more	Copy number gain	See cases	GUncertain significance
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 95