ClinVar for Gene (Select 11317) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3313382	NM_014276.4(RBPJL):c.791C>G (p.Pro264Arg)	RBPJL (P264R)	Single nucleotide variant (missense variant)	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 3313379	NM_014276.4(RBPJL):c.791C>T (p.Pro264Leu)	RBPJL (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
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 3152613	NM_014276.4(RBPJL):c.989G>A (p.Cys330Tyr)	RBPJL (C330Y)	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 3152611	NM_014276.4(RBPJL):c.319C>G (p.Gln107Glu)	LOC130065956, RBPJL (Q107E)	Single nucleotide variant (missense variant)	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 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 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 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 3152606	NM_014276.4(RBPJL):c.1118C>A (p.Thr373Asn)	RBPJL (T373N)	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 2595215	NM_014276.4(RBPJL):c.805G>A (p.Val269Ile)	RBPJL (V269I)	Single nucleotide variant (missense variant)	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 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 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 2536996	NM_014276.4(RBPJL):c.685C>T (p.Arg229Cys)	RBPJL (R229C)	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 2466459	NM_014276.4(RBPJL):c.515G>A (p.Arg172Gln)	RBPJL (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
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 2377638	NM_014276.4(RBPJL):c.208C>T (p.Arg70Trp)	RBPJL (R70W)	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 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
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 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 2308769	NM_014276.4(RBPJL):c.306G>T (p.Arg102Ser)	LOC130065956, RBPJL (R102S)	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 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 2220216	NM_014276.4(RBPJL):c.875G>A (p.Arg292His)	RBPJL (R292H)	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 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 783867	NM_014276.4(RBPJL):c.1442T>C (p.Val481Ala)	RBPJL (V480A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 783866	NM_014276.4(RBPJL):c.1332C>A (p.Ser444Arg)	RBPJL (S443R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783865	NM_014276.4(RBPJL):c.209G>A (p.Arg70Gln)	RBPJL (R70Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685400	GRCh37/hg19 20q13.12(chr20:43886036-43950837)x1	MATN4, RBPJL	Copy number loss	not provided	GUncertain significance
Select item 445144	NM_014276.4(RBPJL):c.839C>T (p.Thr280Met)	RBPJL (T280M)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	Grisk factor
Select item 444120	NC_000020.11:g.45324436T>G	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444119	NC_000020.11:g.45279237T>C	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444118	NM_001393530.1(MATN4):c.643+703C>T	MATN4, RBPJL	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444117	NM_003064.4(SLPI):c.85+267C>T	RBPJL, SLPI	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444116	NC_000020.11:g.45319581A>C	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444115	NM_002999.4(SDC4):c.61-4447del	RBPJL, SDC4	Deletion (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444114	NM_014276.4(RBPJL):c.132-389T>C	RBPJL	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444113	NM_002999.4(SDC4):c.199+134A>G	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444112	NC_000020.11:g.45324681_45324682del	RBPJL	Deletion	Type 2 diabetes mellitus	GBenign
Select item 444111	NM_002999.4(SDC4):c.445+251C>T	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444110	NM_014276.4(RBPJL):c.759T>C (p.Ala253=)	RBPJL	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus	GBenign
Select item 444109	NM_002999.4(SDC4):c.61-965T>C	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444108	NC_000020.11:g.45157150A>G	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444107	NM_014276.4(RBPJL):c.23-481C>G	RBPJL, MATN4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444106	NM_002999.4(SDC4):c.446-1455C>T	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444105	NC_000020.11:g.45285365C>G	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	Grisk factor
Select item 444104	NM_014276.4(RBPJL):c.1333G>A (p.Asp445Asn)	RBPJL (D445N +2 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus	GBenign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146648	GRCh38/hg38 20q13.12(chr20:45304962-45374661)x3	LOC130065956, LOC130065957 +11 more	Copy number gain	See cases	GBenign
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 66