ClinVar for Gene (Select 100533952) - ClinVar

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Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313097	NM_021163.4(RBAK):c.437C>G (p.Ser146Cys)	RBAK, RBAK-RBAKDN (S146C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313096	NM_021163.4(RBAK):c.1840C>T (p.His614Tyr)	RBAK, RBAK-RBAKDN (H614Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313095	NM_021163.4(RBAK):c.343G>A (p.Glu115Lys)	RBAK, RBAK-RBAKDN (E115K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313094	NM_021163.4(RBAK):c.1550G>C (p.Gly517Ala)	RBAK, RBAK-RBAKDN (G517A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245749	NC_000007.13:g.(?_4815347)_(5792630_?)del	ACTB, AP5Z1 +11 more	Deletion	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3152047	NM_021163.4(RBAK):c.869A>C (p.Glu290Ala)	RBAK, RBAK-RBAKDN (E290A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152046	NM_021163.4(RBAK):c.727A>T (p.Ile243Leu)	RBAK, RBAK-RBAKDN (I243L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152045	NM_021163.4(RBAK):c.598A>G (p.Ile200Val)	RBAK, RBAK-RBAKDN (I200V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152044	NM_021163.4(RBAK):c.2113A>G (p.Asn705Asp)	RBAK, RBAK-RBAKDN (N705D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152043	NM_021163.4(RBAK):c.2028G>C (p.Glu676Asp)	RBAK, RBAK-RBAKDN (E676D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152042	NM_021163.4(RBAK):c.1813T>C (p.Ser605Pro)	RBAK, RBAK-RBAKDN (S605P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152041	NM_021163.4(RBAK):c.1679G>A (p.Ser560Asn)	RBAK, RBAK-RBAKDN (S560N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152040	NM_021163.4(RBAK):c.1655C>T (p.Ser552Leu)	RBAK, RBAK-RBAKDN (S552L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152039	NM_021163.4(RBAK):c.1646A>G (p.Asn549Ser)	RBAK, RBAK-RBAKDN (N549S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152038	NM_021163.4(RBAK):c.1502A>G (p.His501Arg)	RBAK, RBAK-RBAKDN (H501R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152037	NM_021163.4(RBAK):c.1376G>C (p.Cys459Ser)	RBAK, RBAK-RBAKDN (C459S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684479	GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3	MMD2, RADIL +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657266	NM_021163.4(RBAK):c.2040A>G (p.Glu680=)	RBAK, RBAK-RBAKDN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2596763	NM_021163.4(RBAK):c.1350T>A (p.Ser450Arg)	RBAK, RBAK-RBAKDN (S450R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589126	NM_021163.4(RBAK):c.2048A>G (p.Glu683Gly)	RBAK, RBAK-RBAKDN (E683G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559712	NM_021163.4(RBAK):c.1465G>C (p.Glu489Gln)	RBAK, RBAK-RBAKDN (E489Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550352	NM_021163.4(RBAK):c.1688A>G (p.Glu563Gly)	RBAK, RBAK-RBAKDN (E563G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542106	NM_021163.4(RBAK):c.1733A>G (p.His578Arg)	RBAK, RBAK-RBAKDN (H578R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529982	NM_001204513.3(RBAK-RBAKDN):c.334G>A (p.Gly112Arg)	RBAK-RBAKDN, RBAKDN (G112R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509972	NM_021163.4(RBAK):c.1711G>A (p.Glu571Lys)	RBAK, RBAK-RBAKDN (E571K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460724	NM_021163.4(RBAK):c.1427G>A (p.Arg476Gln)	RBAK, RBAK-RBAKDN (R476Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411398	NM_021163.4(RBAK):c.290A>G (p.Lys97Arg)	RBAK, RBAK-RBAKDN (K97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410845	NM_001204513.3(RBAK-RBAKDN):c.241G>T (p.Ala81Ser)	RBAK-RBAKDN, RBAKDN (A81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374505	NM_021163.4(RBAK):c.772A>G (p.Met258Val)	RBAK, RBAK-RBAKDN (M258V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355207	NM_021163.4(RBAK):c.1369T>C (p.Tyr457His)	RBAK, RBAK-RBAKDN (Y457H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338706	NM_021163.4(RBAK):c.1123T>C (p.Cys375Arg)	RBAK, RBAK-RBAKDN (C375R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337591	NM_021163.4(RBAK):c.1481C>T (p.Ser494Phe)	RBAK, RBAK-RBAKDN (S494F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302779	NM_021163.4(RBAK):c.716G>A (p.Gly239Glu)	RBAK, RBAK-RBAKDN (G239E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268865	NM_021163.4(RBAK):c.246G>C (p.Trp82Cys)	RBAK, RBAK-RBAKDN (W82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267780	NM_001204513.3(RBAK-RBAKDN):c.256C>T (p.His86Tyr)	RBAK-RBAKDN, RBAKDN (H86Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254615	NM_021163.4(RBAK):c.326C>A (p.Thr109Asn)	RBAK, RBAK-RBAKDN (T109N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249801	NM_021163.4(RBAK):c.1571C>T (p.Ser524Leu)	RBAK, RBAK-RBAKDN (S524L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245691	NM_021163.4(RBAK):c.550G>T (p.Gly184Trp)	RBAK, RBAK-RBAKDN (G184W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236344	NM_021163.4(RBAK):c.1841A>G (p.His614Arg)	RBAK, RBAK-RBAKDN (H614R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224312	NM_021163.4(RBAK):c.922C>T (p.Arg308Trp)	RBAK, RBAK-RBAKDN (R308W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215057	NM_021163.4(RBAK):c.923G>A (p.Arg308Gln)	RBAK, RBAK-RBAKDN (R308Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213620	NM_021163.4(RBAK):c.631A>T (p.Met211Leu)	RBAK, RBAK-RBAKDN (M211L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204302	NM_021163.4(RBAK):c.761C>T (p.Ser254Leu)	RBAK, RBAK-RBAKDN (S254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1809324	GRCh37/hg19 7p22.1(chr7:4868426-5184301)x3	MMD2, PAPOLB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341124	GRCh37/hg19 7p22.1(chr7:4953918-5184301)x3	MMD2, RBAK +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330190	GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1	ACTB, FBXL18 +5 more	Copy number loss	Autistic behavior +4 more	GPathogenic
Select item 980814	GRCh37/hg19 7p22.2-22.1(chr7:4457599-5138409)x3	AP5Z1, FOXK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980262	GRCh37/hg19 7p22.1(chr7:4733073-5157165)x3	RBAK, RBAK-RBAKDN +5 more	Copy number gain	not provided	GUncertain significance
Select item 974755	NC_000007.13:g.4929022_5218030dup	RBAK, RBAK-RBAKDN +1 more	Duplication	Megacolon	GUncertain significance
Select item 814921	GRCh37/hg19 7p22.1(chr7:5066179-5203597)x1	RBAK-RBAKDN, RBAK	Copy number loss	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 548976	GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3	AP5Z1, FOXK1 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 443024	GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1	AMZ1, AP5Z1 +26 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 161746	NM_021163.4(RBAK):c.1602A>T (p.Lys534Asn)	RBAK, RBAK-RBAKDN (K534N)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 150788	GRCh38/hg38 7p22.1(chr7:4922492-5112002)x3	LOC129389731, LOC129997867 +5 more	Copy number gain	See cases	GLikely benign
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145914	GRCh38/hg38 7p22.1(chr7:5041361-5126344)x1	LOC129389731, LOC129997867 +4 more	Copy number loss	See cases	GLikely benign
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 92