"Ambry Genetics"[submitter] AND "RBPJL"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2546059	NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)	MATN4, RBPJL (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593288	NM_014276.4(RBPJL):c.100G>A (p.Asp34Asn)	MATN4, RBPJL (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312028	NM_014276.4(RBPJL):c.116C>G (p.Pro39Arg)	MATN4, RBPJL (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152610	NM_014276.4(RBPJL):c.184C>A (p.Gln62Lys)	RBPJL (Q62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377638	NM_014276.4(RBPJL):c.208C>T (p.Arg70Trp)	RBPJL (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308769	NM_014276.4(RBPJL):c.306G>T (p.Arg102Ser)	LOC130065956, RBPJL (R102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152611	NM_014276.4(RBPJL):c.319C>G (p.Gln107Glu)	LOC130065956, RBPJL (Q107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466459	NM_014276.4(RBPJL):c.515G>A (p.Arg172Gln)	RBPJL (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237976	NM_014276.4(RBPJL):c.529G>T (p.Gly177Trp)	RBPJL (G177W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235572	NM_014276.4(RBPJL):c.536G>C (p.Arg179Pro)	RBPJL (R179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253657	NM_014276.4(RBPJL):c.578C>T (p.Ser193Leu)	RBPJL (S193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536996	NM_014276.4(RBPJL):c.685C>T (p.Arg229Cys)	RBPJL (R229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152612	NM_014276.4(RBPJL):c.709G>A (p.Ala237Thr)	RBPJL (A237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347231	NM_014276.4(RBPJL):c.723T>G (p.Ser241Arg)	RBPJL (S241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313382	NM_014276.4(RBPJL):c.791C>G (p.Pro264Arg)	RBPJL (P264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313379	NM_014276.4(RBPJL):c.791C>T (p.Pro264Leu)	RBPJL (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218111	NM_014276.4(RBPJL):c.794G>A (p.Arg265Gln)	RBPJL (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595215	NM_014276.4(RBPJL):c.805G>A (p.Val269Ile)	RBPJL (V269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220216	NM_014276.4(RBPJL):c.875G>A (p.Arg292His)	RBPJL (R292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152613	NM_014276.4(RBPJL):c.989G>A (p.Cys330Tyr)	RBPJL (C330Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152614	NM_014276.4(RBPJL):c.991C>T (p.Leu331Phe)	RBPJL (L331F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152605	NM_014276.4(RBPJL):c.1028C>G (p.Pro343Arg)	RBPJL (P343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399765	NM_014276.4(RBPJL):c.1034C>G (p.Pro345Arg)	RBPJL (P345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313383	NM_014276.4(RBPJL):c.1093G>A (p.Glu365Lys)	RBPJL (E365K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152606	NM_014276.4(RBPJL):c.1118C>A (p.Thr373Asn)	RBPJL (T373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152607	NM_014276.4(RBPJL):c.1288C>T (p.Arg430Trp)	RBPJL (R430W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310193	NM_014276.4(RBPJL):c.1334A>T (p.Asp445Val)	RBPJL (D445V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2547149	NM_014276.4(RBPJL):c.1339C>T (p.Arg447Cys)	RBPJL (A450V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534084	NM_014276.4(RBPJL):c.1378G>A (p.Val460Met)	RBPJL (G463D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152608	NM_014276.4(RBPJL):c.1409C>A (p.Ala470Asp)	RBPJL (A469D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313381	NM_014276.4(RBPJL):c.1436A>G (p.Tyr479Cys)	RBPJL (Y479C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152609	NM_014276.4(RBPJL):c.1447C>A (p.Pro483Thr)	RBPJL (P482T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346118	NM_014276.4(RBPJL):c.1537C>T (p.Leu513Phe)	RBPJL (L512F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338792	NM_014276.4(RBPJL):c.1537C>G (p.Leu513Val)	RBPJL (L512V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 34