"GeneDx"[submitter] AND "H1-4"[gene] - ClinVar

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Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502562	NM_005321.3(H1-4):c.2T>A (p.Met1Lys)	H1-4 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661931	NM_005321.3(H1-4):c.43_54dup (p.Thr18_Pro19insAlaGluLysThr)	H1-4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2580814	NM_005321.3(H1-4):c.85G>T (p.Gly29Cys)	H1-4 (G29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938390	NM_005321.3(H1-4):c.127C>T (p.Leu43Phe)	H1-4 (L43F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702696	NM_005321.3(H1-4):c.220_222del (p.Glu74del)	H1-4 (E74del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 432775	NM_005321.3(H1-4):c.277del (p.Leu93fs)	H1-4 (L93fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3373696	NM_005321.3(H1-4):c.322_324delinsTAT (p.Asn108Tyr)	H1-4 (N108Y)	Indel (missense variant)	not provided	GUncertain significance
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 790028	NM_005321.3(H1-4):c.375G>T (p.Ala125=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 817291	NM_005321.3(H1-4):c.392dup (p.Ala132fs)	H1-4 (A132fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1303813	NM_005321.3(H1-4):c.416A>G (p.Lys139Arg)	H1-4 (K139R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 817475	NM_005321.3(H1-4):c.430delinsCC (p.Ala144fs)	H1-4 (A144fs)	Indel (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 428607	NM_005321.3(H1-4):c.436_458del (p.Thr146fs)	H1-4 (T146fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 428606	NM_005321.3(H1-4):c.441dup (p.Lys148fs)	H1-4 (K148fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 817681	NM_005321.3(H1-4):c.444_466del (p.Lys149fs)	H1-4 (K149fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1191465	NM_005321.3(H1-4):c.443dup (p.Lys149fs)	H1-4 (K149fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3340665	NM_005321.3(H1-4):c.446_447insT (p.Lys149fs)	H1-4 (K149fs)	Insertion (frameshift variant)	not provided	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 773469	NM_005321.3(H1-4):c.455A>G (p.Lys152Arg)	H1-4 (K152R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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
Select item 3369231	NM_005321.3(H1-4):c.513A>T (p.Lys171Asn)	H1-4 (K171N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365715	NM_005321.3(H1-4):c.548_549del (p.Lys183fs)	H1-4 (K183fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1312220	NM_005321.3(H1-4):c.552_553dup (p.Pro185fs)	H1-4 (P185fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 504379	NM_005321.3(H1-4):c.582_583dup (p.Lys195fs)	H1-4 (K195fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1307085	NM_005321.3(H1-4):c.626_627del (p.Ala209fs)	H1-4 (A209fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3252590	NM_005321.3(H1-4):c.636del (p.Lys213fs)	H1-4 (K213fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364416	NM_005321.3(H1-4):c.658_660del (p.Ter220del)	H1-4 (:220del)	Deletion (stop lost)	not provided	GUncertain significance
Select item 1707045	NM_005321.3(H1-4):c.658T>G (p.Ter220Glu)	H1-4	Single nucleotide variant (stop lost)	not provided	GUncertain significance

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Items: 31