LOC126807011[gene] - ClinVar

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Items: 29

	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 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

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Items: 29