ClinVar for Gene (Select 26145) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3529998	NM_015649.3(IRF2BP1):c.1130C>T (p.Thr377Met)	IRF2BP1 (T377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529996	NM_015649.3(IRF2BP1):c.428A>T (p.Glu143Val)	IRF2BP1 (E143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529995	NM_015649.3(IRF2BP1):c.463C>T (p.Leu155Phe)	IRF2BP1 (L155F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529994	NM_015649.3(IRF2BP1):c.1318C>G (p.Pro440Ala)	IRF2BP1 (P440A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529993	NM_015649.3(IRF2BP1):c.1624G>A (p.Gly542Arg)	IRF2BP1 (G542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529992	NM_015649.3(IRF2BP1):c.245C>T (p.Ala82Val)	IRF2BP1, LOC130064733 (A82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3529991	NM_015649.3(IRF2BP1):c.1495G>C (p.Ala499Pro)	IRF2BP1 (A499P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286516	NM_015649.3(IRF2BP1):c.671G>A (p.Gly224Glu)	IRF2BP1 (G224E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286515	NM_015649.3(IRF2BP1):c.1085T>C (p.Leu362Pro)	IRF2BP1 (L362P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286514	NM_015649.3(IRF2BP1):c.941A>G (p.Lys314Arg)	IRF2BP1 (K314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286513	NM_015649.3(IRF2BP1):c.5C>T (p.Ala2Val)	IRF2BP1, LOC130064734 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286511	NM_015649.3(IRF2BP1):c.1379C>T (p.Ala460Val)	IRF2BP1 (A460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286510	NM_015649.3(IRF2BP1):c.1078G>C (p.Ala360Pro)	IRF2BP1 (A360P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110845	NM_015649.3(IRF2BP1):c.560C>T (p.Pro187Leu)	IRF2BP1 (P187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110844	NM_015649.3(IRF2BP1):c.550G>A (p.Gly184Ser)	IRF2BP1 (G184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110843	NM_015649.3(IRF2BP1):c.539C>T (p.Thr180Met)	IRF2BP1 (T180M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110842	NM_015649.3(IRF2BP1):c.512T>C (p.Val171Ala)	IRF2BP1 (V171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110841	NM_015649.3(IRF2BP1):c.355G>A (p.Gly119Ser)	IRF2BP1, LOC130064733 (G119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110840	NM_015649.3(IRF2BP1):c.340A>T (p.Arg114Trp)	IRF2BP1, LOC130064733 (R114W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110839	NM_015649.3(IRF2BP1):c.1610C>A (p.Ala537Glu)	IRF2BP1 (A537E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110838	NM_015649.3(IRF2BP1):c.1124C>A (p.Ala375Glu)	IRF2BP1 (A375E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609550	NM_015649.3(IRF2BP1):c.1663G>A (p.Val555Ile)	IRF2BP1 (V555I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594867	NM_015649.3(IRF2BP1):c.1336C>G (p.Pro446Ala)	IRF2BP1 (P446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520404	NM_015649.3(IRF2BP1):c.1193A>C (p.Glu398Ala)	IRF2BP1 (E398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490784	NM_015649.3(IRF2BP1):c.1147G>A (p.Ala383Thr)	IRF2BP1 (A383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488043	NM_015649.3(IRF2BP1):c.258G>C (p.Gln86His)	IRF2BP1, LOC130064733 (Q86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480910	NM_015649.3(IRF2BP1):c.440C>T (p.Ala147Val)	IRF2BP1 (A147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412444	NM_015649.3(IRF2BP1):c.257A>T (p.Gln86Leu)	IRF2BP1, LOC130064733 (Q86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339727	NM_015649.3(IRF2BP1):c.1114C>T (p.Arg372Trp)	IRF2BP1 (R372W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324783	NM_015649.3(IRF2BP1):c.1262C>G (p.Ser421Trp)	IRF2BP1 (S421W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302694	NM_015649.3(IRF2BP1):c.784A>G (p.Thr262Ala)	IRF2BP1 (T262A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289189	NM_015649.3(IRF2BP1):c.1199A>G (p.Gln400Arg)	IRF2BP1 (Q400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263137	NM_015649.3(IRF2BP1):c.242C>T (p.Ala81Val)	IRF2BP1, LOC130064733 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242677	NM_015649.3(IRF2BP1):c.208C>G (p.Pro70Ala)	IRF2BP1, LOC130064733 (P70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315569	NM_015649.3(IRF2BP1):c.1689C>T (p.Phe563=)	IRF2BP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1315568	NM_015649.3(IRF2BP1):c.1530A>G (p.Leu510=)	IRF2BP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564591	GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3	CCDC61, DMPK +14 more	Copy number gain	not provided	GUncertain significance
Select item 564584	GRCh37/hg19 19q13.32(chr19:46361535-46573564)x3	NANOS2, IGFL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47