C4479637[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975953	NM_005321.3(H1-4):c.365dup (p.Ala123fs)	H1-4 (A123fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 992671	NM_005321.3(H1-4):c.407dup (p.Lys137fs)	H1-4 (K137fs)	Duplication (frameshift variant)	Rahman syndrome	Gnot provided
Select item 992670	NM_005321.3(H1-4):c.406_407insT (p.Lys136fs)	H1-4 (K136fs)	Insertion (frameshift variant)	Rahman syndrome	Gnot provided
Select item 635256	NM_005321.3(H1-4):c.408dup (p.Lys137fs)	H1-4 (K137fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 635257	NM_005321.3(H1-4):c.414dup (p.Lys139fs)	H1-4 (K139fs)	Duplication (frameshift variant)	Rahman syndrome +2 more	GPathogenic/Likely pathogenic
Select item 992672	NM_005321.3(H1-4):c.416dup (p.Lys140fs)	H1-4 (K140fs)	Duplication (frameshift variant)	Rahman syndrome	Gnot provided
Select item 635259	NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs)	H1-4 (T142fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 635258	NM_005321.3(H1-4):c.425_431delinsAGGGGGTT (p.Thr142fs)	H1-4 (T142fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 428605	NM_005321.3(H1-4):c.430dup (p.Ala144fs)	H1-4 (A144fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 992673	NM_005321.3(H1-4):c.431dup (p.Ala145fs)	H1-4 (A145fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 503824	NM_005321.3(H1-4):c.433dup (p.Ala145fs)	H1-4 (A145fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 870827	NM_005321.3(H1-4):c.435dup (p.Thr146fs)	H1-4 (T146fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 428607	NM_005321.3(H1-4):c.436_458del (p.Thr146fs)	H1-4 (T146fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 992674	NM_005321.3(H1-4):c.440_441del (p.Pro147fs)	H1-4 (P147fs)	Deletion (frameshift variant)	Rahman syndrome	Gnot provided
Select item 635260	NM_005321.3(H1-4):c.447dup (p.Ser150fs)	H1-4 (S150fs)	Duplication (frameshift variant)	Rahman syndrome +1 more	GPathogenic
Select item 523954	NM_005321.3(H1-4):c.454_455insT (p.Lys152fs)	H1-4 (K152fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 635261	NM_005321.3(H1-4):c.464dup (p.Lys157fs)	H1-4 (K157fs)	Duplication (frameshift variant)	Neurodevelopmental disorder +2 more	GPathogenic/Likely pathogenic