"PreventionGenetics, part of Exact Sciences"[submitter] AND "IRF2BPL"[ - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631496	NM_024496.4(IRF2BPL):c.2387C>T (p.Pro796Leu)	IRF2BPL (P796L)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 3054950	NM_024496.4(IRF2BPL):c.2299G>C (p.Val767Leu)	IRF2BPL (V767L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1284940	NM_024496.4(IRF2BPL):c.2203A>T (p.Ser735Cys)	IRF2BPL (S735C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2432872	NM_024496.4(IRF2BPL):c.2200C>T (p.Pro734Ser)	IRF2BPL (P734S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more	GUncertain significance
Select item 3058779	NM_024496.4(IRF2BPL):c.2100A>G (p.Gln700=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 2635913	NM_024496.4(IRF2BPL):c.1930A>G (p.Ser644Gly)	IRF2BPL (S644G)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 2628446	NM_024496.4(IRF2BPL):c.1862C>T (p.Pro621Leu)	IRF2BPL (P621L)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 3047272	NM_024496.4(IRF2BPL):c.1801C>T (p.Pro601Ser)	IRF2BPL (P601S)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 1013050	NM_024496.4(IRF2BPL):c.1785T>G (p.Gly595=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder +1 more	GBenign/Likely benign
Select item 3050835	NM_024496.4(IRF2BPL):c.1767G>A (p.Pro589=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 2636507	NM_024496.4(IRF2BPL):c.1707G>C (p.Trp569Cys)	IRF2BPL (W569C)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 2644384	NM_024496.4(IRF2BPL):c.1550C>T (p.Ala517Val)	IRF2BPL (A517V)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder +1 more	GBenign/Likely benign
Select item 3048310	NM_024496.4(IRF2BPL):c.1506C>T (p.Ala502=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3057877	NM_024496.4(IRF2BPL):c.1500G>C (p.Leu500=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3050171	NM_024496.4(IRF2BPL):c.1341G>A (p.Lys447=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 2633345	NM_024496.4(IRF2BPL):c.1180_1202del (p.Lys394fs)	IRF2BPL (K394fs)	Deletion (frameshift variant)	IRF2BPL-related disorder	GLikely pathogenic
Select item 3055038	NM_024496.4(IRF2BPL):c.929C>T (p.Ser310Phe)	IRF2BPL (S310F)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GLikely benign
Select item 2644393	NM_024496.4(IRF2BPL):c.876T>C (p.Ala292=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder +1 more	GLikely benign
Select item 2644394	NM_024496.4(IRF2BPL):c.873G>A (p.Gly291=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder +1 more	GLikely benign
Select item 2378712	NM_024496.4(IRF2BPL):c.800G>T (p.Ser267Ile)	IRF2BPL (S267I)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3051046	NM_024496.4(IRF2BPL):c.726G>A (p.Pro242=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 1694722	NM_024496.4(IRF2BPL):c.721A>C (p.Asn241His)	IRF2BPL (N241H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3054398	NM_024496.4(IRF2BPL):c.696C>T (p.His232=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3054029	NM_024496.4(IRF2BPL):c.672_680del (p.Val225_Ser227del)	IRF2BPL	Deletion (inframe deletion)	IRF2BPL-related disorder	GLikely benign
Select item 3048707	NM_024496.4(IRF2BPL):c.550A>G (p.Ser184Gly)	IRF2BPL (S184G)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GLikely benign
Select item 3044727	NM_024496.4(IRF2BPL):c.534G>A (p.Val178=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 2591838	NM_024496.4(IRF2BPL):c.532G>A (p.Val178Met)	IRF2BPL (V178M)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder +1 more	GLikely benign
Select item 620458	NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)	IRF2BPL (Q167*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +2 more	GPathogenic/Likely pathogenic
Select item 2689258	NM_024496.4(IRF2BPL):c.489_491dup (p.Ala164_Val165insAla)	IRF2BPL	Duplication (inframe_insertion)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more	GUncertain significance
Select item 2412976	NM_024496.4(IRF2BPL):c.492CGC[4] (p.Ala164_Val165insAlaAlaAlaAla)	IRF2BPL	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1174647	NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup)	IRF2BPL	Insertion (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 3037616	NM_024496.4(IRF2BPL):c.489_491del (p.Ala164del)	IRF2BPL (A164del)	Deletion (inframe deletion)	IRF2BPL-related disorder	GBenign
Select item 2644400	NM_024496.4(IRF2BPL):c.462CGC[10] (p.Ala164_Val165insAla)	IRF2BPL	Microsatellite (inframe_insertion)	IRF2BPL-related disorder +1 more	GBenign/Likely benign
Select item 2633998	NM_024496.4(IRF2BPL):c.489delinsCGCGCGCCGC (p.Ala164_Val165insArgArgAla)	IRF2BPL	Indel (inframe_insertion)	IRF2BPL-related disorder	GUncertain significance
Select item 1328204	NM_024496.4(IRF2BPL):c.462CGC[11] (p.Ala163_Ala164dup)	IRF2BPL	Microsatellite (inframe_insertion)	IRF2BPL-related disorder +1 more	GBenign/Likely benign
Select item 2644401	NM_024496.4(IRF2BPL):c.462CGC[7] (p.Ala163_Ala164del)	IRF2BPL	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1174972	NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del)	IRF2BPL (A164del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign
Select item 2644402	NM_024496.4(IRF2BPL):c.459_470dup (p.Ala164_Val165insAlaAlaAlaAla)	IRF2BPL	Duplication (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 3046037	NM_024496.4(IRF2BPL):c.405C>T (p.Ser135=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3053674	NM_024496.4(IRF2BPL):c.226G>A (p.Val76Ile)	IRF2BPL (V76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3026140	NM_024496.4(IRF2BPL):c.90C>T (p.Phe30=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3047526	NM_024496.4(IRF2BPL):c.79A>C (p.Ile27Leu)	IRF2BPL (I27L)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GLikely benign
Select item 3050461	NM_024496.4(IRF2BPL):c.48G>C (p.Leu16=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3039890	NM_024496.4(IRF2BPL):c.46C>T (p.Leu16=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 2644424	NM_024496.4(IRF2BPL):c.6G>C (p.Ser2=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 45