"PreventionGenetics, part of Exact Sciences"[submitter] AND "IRF2BP2"[ - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2093280	NM_182972.3(IRF2BP2):c.1643A>G (p.Tyr548Cys)	IRF2BP2 (Y532C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1904097	NM_182972.3(IRF2BP2):c.1626A>C (p.Gly542=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1500329	NM_182972.3(IRF2BP2):c.1390A>G (p.Met464Val)	IRF2BP2 (M448V +1 more)	Single nucleotide variant (missense variant)	IRF2BP2-related disorder +1 more	GUncertain significance
Select item 2629048	NM_182972.3(IRF2BP2):c.1285A>T (p.Ile429Phe)	IRF2BP2 (I413F +1 more)	Single nucleotide variant (missense variant)	IRF2BP2-related disorder	GUncertain significance
Select item 1406635	NM_182972.3(IRF2BP2):c.1169C>T (p.Pro390Leu)	IRF2BP2 (P390L +1 more)	Single nucleotide variant (missense variant)	IRF2BP2-related disorder +1 more	GUncertain significance
Select item 2183398	NM_182972.3(IRF2BP2):c.960C>T (p.Pro320=)	IRF2BP2, LOC129932810	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1592421	NM_182972.3(IRF2BP2):c.954G>A (p.Ser318=)	IRF2BP2, LOC129932810	Single nucleotide variant (synonymous variant)	IRF2BP2-related disorder +1 more	GLikely benign
Select item 1559713	NM_182972.3(IRF2BP2):c.897C>T (p.Val299=)	IRF2BP2	Single nucleotide variant (synonymous variant)	IRF2BP2-related disorder +1 more	GLikely benign
Select item 1391984	NM_182972.3(IRF2BP2):c.745C>T (p.His249Tyr)	IRF2BP2 (H249Y)	Single nucleotide variant (missense variant)	IRF2BP2-related disorder +1 more	GLikely benign
Select item 1599170	NM_182972.3(IRF2BP2):c.712C>A (p.Pro238Thr)	IRF2BP2, LOC129932811 (P238T)	Single nucleotide variant (missense variant)	IRF2BP2-related disorder +1 more	GBenign
Select item 1660982	NM_182972.3(IRF2BP2):c.615C>T (p.Leu205=)	IRF2BP2, LOC129932811	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1595733	NM_182972.3(IRF2BP2):c.609C>T (p.Leu203=)	IRF2BP2, LOC129932811	Single nucleotide variant (synonymous variant)	IRF2BP2-related disorder +1 more	GLikely benign
Select item 1166374	NM_182972.3(IRF2BP2):c.483C>T (p.Gly161=)	IRF2BP2, LOC129932812	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1514917	NM_182972.3(IRF2BP2):c.366G>A (p.Ala122=)	LOC129932812, IRF2BP2	Single nucleotide variant (synonymous variant)	IRF2BP2-related disorder +1 more	GLikely benign
Select item 770864	NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser)	IRF2BP2, LOC129932812 (P118S)	Single nucleotide variant (missense variant)	IRF2BP2-related disorder +2 more	GBenign/Likely benign
Select item 636927	NM_182972.3(IRF2BP2):c.352C>G (p.Pro118Ala)	IRF2BP2, LOC129932812 (P118A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1670049	NM_182972.3(IRF2BP2):c.261C>T (p.Ser87=)	IRF2BP2, LOC129932812	Single nucleotide variant (synonymous variant)	IRF2BP2-related disorder +1 more	GLikely benign
Select item 2174394	NM_182972.3(IRF2BP2):c.248CGC[2] (p.Pro85del)	IRF2BP2, LOC129932812 (P85del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1115835	NM_182972.3(IRF2BP2):c.225C>T (p.Ala75=)	IRF2BP2, LOC129932812	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 782235	NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=)	IRF2BP2	Single nucleotide variant (synonymous variant)	IRF2BP2-related disorder +2 more	GBenign
Select item 1932460	NM_182972.3(IRF2BP2):c.14TGGCGG[3] (p.Ala8_Ala9insValAla)	IRF2BP2	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 3046362	NM_182972.3(IRF2BP2):c.-5C>T	IRF2BP2	Single nucleotide variant (5 prime UTR variant)	IRF2BP2-related disorder	GLikely benign

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Items: 22