RBPJ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 444123	NC_000004.12:g.26222167C>T	RBPJ	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 1801385	NM_001374401.1(RBPJ):c.-166-73601_-166-68683del	LOC129992362, RBPJ	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 444122	NM_005349.3(RBPJ):c.-1504G>A	RBPJ	Single nucleotide variant (genic upstream transcript variant)	Type 2 diabetes mellitus	GBenign
Select item 2654701	NM_015874.2(RBPJ):c.7G>C (p.Gly3Arg)	RBPJ (G3R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3350332	NM_203283.5(RBPJ):c.-47+1dup	RBPJ	Duplication (intron variant +1 more)	RBPJ-related disorder	GUncertain significance
Select item 1695734	NM_005349.4(RBPJ):c.-58+3A>C	RBPJ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1283151	NM_005349.4(RBPJ):c.-57-280G>A	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179953	NM_005349.4(RBPJ):c.-57-200G>T	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197001	NM_005349.4(RBPJ):c.-57-48A>G	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1396010	NC_000004.12:g.26320757A>T	RBPJ (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2743342	NM_203283.5(RBPJ):c.-47+878_-47+892del	RBPJ	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2435387	NM_005349.4(RBPJ):c.20C>A (p.Ser7Ter)	RBPJ (S7*)	Single nucleotide variant (nonsense +2 more)	Adams-Oliver syndrome 3	GUncertain significance
Select item 3033451	NM_005349.4(RBPJ):c.34C>G (p.Pro12Ala)	RBPJ (P12A)	Single nucleotide variant (missense variant +2 more)	RBPJ-related disorder	GUncertain significance
Select item 2682454	NM_005349.4(RBPJ):c.37C>G (p.Pro13Ala)	RBPJ (P13A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2066899	NC_000004.12:g.26320793C>T	RBPJ (P13S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1978464	NC_000004.12:g.26320822T>C	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964383	NC_000004.12:g.26320825C>T	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622500	NC_000004.12:g.26320827G>C	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444137	NC_000004.12:g.26320917G>A	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444130	NM_015874.6(RBPJ):c.20+10722T>G	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444124	NM_015874.6(RBPJ):c.20+13573C>T	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444136	NM_015874.6(RBPJ):c.20+29693T>G	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444129	NM_015874.6(RBPJ):c.21-26407G>A	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444131	NM_015874.6(RBPJ):c.21-20856T>C	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444128	NM_015874.6(RBPJ):c.21-2640G>A	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 1615299	NM_015874.6(RBPJ):c.21-5dup	RBPJ	Duplication (intron variant)	not provided	GBenign
Select item 1560340	NM_015874.6(RBPJ):c.21-6_21-5del	RBPJ	Deletion (intron variant)	not provided	GBenign
Select item 1164945	NM_015874.6(RBPJ):c.21-5del	RBPJ	Deletion (intron variant)	not provided	GBenign
Select item 2988111	NM_015874.6(RBPJ):c.29G>T (p.Gly10Val)	RBPJ (G8V +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2414301	NM_015874.6(RBPJ):c.44C>T (p.Pro15Leu)	RBPJ (P13L +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2654702	NM_015874.6(RBPJ):c.46A>G (p.Lys16Glu)	RBPJ (K14E +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2103712	NM_015874.6(RBPJ):c.47A>C (p.Lys16Thr)	RBPJ (K16T +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1342378	NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln)	RBPJ (R15Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1479501	NM_015874.6(RBPJ):c.59+4A>G	RBPJ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1553259	NM_015874.6(RBPJ):c.59+14T>G	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008835	NM_015874.6(RBPJ):c.59+17_59+20del	RBPJ	Deletion (intron variant)	not provided	GLikely benign
Select item 444121	NM_015874.6(RBPJ):c.59+2331A>C	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444134	NM_015874.6(RBPJ):c.60-8189dup	RBPJ	Duplication (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444133	NM_015874.6(RBPJ):c.60-5130C>T	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 1178245	NM_015874.6(RBPJ):c.60-285G>A	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241825	NM_015874.6(RBPJ):c.60-116A>G	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181052	NM_015874.6(RBPJ):c.60-68G>A	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2010704	NM_015874.6(RBPJ):c.60-13T>C	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930200	NM_015874.6(RBPJ):c.71G>A (p.Arg24Gln)	LOC126807011, RBPJ (R24Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3152604	NM_015874.6(RBPJ):c.98A>G (p.Gln33Arg)	LOC126807011, RBPJ (Q32R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030365	NM_015874.6(RBPJ):c.103G>C (p.Val35Leu)	LOC126807011, RBPJ (V13L +4 more)	Single nucleotide variant (missense variant)	RBPJ-related disorder	GUncertain significance
Select item 2781515	NM_015874.6(RBPJ):c.103G>A (p.Val35Ile)	LOC126807011, RBPJ (V13I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551679	NM_015874.6(RBPJ):c.129A>G (p.Ala43=)	LOC126807011, RBPJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521335	NM_015874.6(RBPJ):c.130C>G (p.Gln44Glu)	LOC126807011, RBPJ (Q57E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1309159	NM_015874.6(RBPJ):c.134del (p.Lys45fs)	LOC126807011, RBPJ (K23fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1805553	NM_015874.6(RBPJ):c.140A>G (p.Tyr47Cys)	LOC126807011, RBPJ (Y25C +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GUncertain significance
Select item 775215	NM_015874.6(RBPJ):c.141T>C (p.Tyr47=)	LOC126807011, RBPJ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 37053	NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly)	LOC126807011, RBPJ (E63G +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GPathogenic
Select item 523586	NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly)	LOC126807011, RBPJ (R65G +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3 +1 more	GLikely pathogenic
Select item 1803755	NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr)	LOC126807011, RBPJ (R30T +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GLikely pathogenic
Select item 3339977	NM_015874.6(RBPJ):c.155+6A>C	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1206799	NM_015874.6(RBPJ):c.155+203A>G	LOC126807011, RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 444125	NM_015874.6(RBPJ):c.156-2327G>C	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 1294476	NM_015874.6(RBPJ):c.156-211G>A	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174387	NM_015874.6(RBPJ):c.156-179G>A	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235053	NM_015874.6(RBPJ):c.156-18dup	RBPJ	Duplication (intron variant)	not provided	GBenign
Select item 1646667	NM_015874.6(RBPJ):c.156-18T>C	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1612310	NM_015874.6(RBPJ):c.156-14dup	RBPJ	Duplication (intron variant)	not provided	GBenign
Select item 1900333	NM_015874.6(RBPJ):c.156-9A>T	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1948937	NM_015874.6(RBPJ):c.156-7T>G	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 523587	NM_015874.6(RBPJ):c.157T>G (p.Phe53Val)	RBPJ (F66V +4 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 3	GLikely pathogenic
Select item 2654703	NM_015874.6(RBPJ):c.188T>C (p.Met63Thr)	RBPJ (M41T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164140	NM_015874.6(RBPJ):c.195T>C (p.Ser65=)	RBPJ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1613519	NM_015874.6(RBPJ):c.204G>A (p.Lys68=)	RBPJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322326	NM_015874.6(RBPJ):c.208A>G (p.Lys70Glu)	RBPJ (K83E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2019505	NM_015874.6(RBPJ):c.226C>T (p.Arg76Cys)	RBPJ (R74C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429862	NM_015874.6(RBPJ):c.229G>A (p.Asp77Asn)	RBPJ (D77N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475881	NM_015874.6(RBPJ):c.257C>G (p.Pro86Arg)	RBPJ (P86R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558097	NM_015874.6(RBPJ):c.258G>A (p.Pro86=)	RBPJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721050	NM_015874.6(RBPJ):c.258G>T (p.Pro86=)	RBPJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991324	NM_015874.6(RBPJ):c.259T>C (p.Cys87Arg)	RBPJ (C65R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746828	NM_015874.6(RBPJ):c.282T>C (p.Asn94=)	RBPJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662772	NM_015874.6(RBPJ):c.316G>A (p.Gly106Arg)	RBPJ (G104R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818623	NM_015874.6(RBPJ):c.321+8A>G	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629014	NM_015874.6(RBPJ):c.321+18G>C	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257781	NM_015874.6(RBPJ):c.321+135del	RBPJ	Deletion (intron variant)	not provided	GBenign
Select item 1217775	NM_015874.6(RBPJ):c.321+147C>T	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198216	NM_015874.6(RBPJ):c.321+183C>T	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 444132	NM_015874.6(RBPJ):c.321+406G>A	RBPJ	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 1188755	NM_015874.6(RBPJ):c.322-171T>G	RBPJ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283235	NM_015874.6(RBPJ):c.322-129G>T	RBPJ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 802061	NM_015874.6(RBPJ):c.368G>A (p.Arg123Gln)	RBPJ (R121Q +4 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 802062	NM_015874.6(RBPJ):c.394A>G (p.Met132Val)	RBPJ (M132V +4 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 2321118	NM_015874.6(RBPJ):c.404G>T (p.Gly135Val)	RBPJ (G133V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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