ClinVar for MedGen (Select 1824083) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235778	NM_003545.4(H4C5):c.81C>G (p.Ile27Met)	H4C5, LOC129996027 (I27M)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GLikely pathogenic
Select item 2443864	NM_003545.4(H4C5):c.295T>C (p.Tyr99His)	H4C5 (Y99H)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 2443862	NM_003545.4(H4C5):c.106C>T (p.Arg36Trp)	H4C5, LOC129996027 (R36W)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GPathogenic
Select item 2443861	NM_003545.4(H4C5):c.98C>G (p.Pro33Arg)	H4C5, LOC129996027 (P33R)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GPathogenic
Select item 2443860	NM_003545.4(H4C5):c.95A>C (p.Lys32Thr)	LOC129996027, H4C5 (K32T)	Single nucleotide variant (missense variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GPathogenic
Select item 2431938	NM_003545.4(H4C5):c.158_159del (p.Glu53fs)	H4C5 (E53fs)	Deletion (frameshift variant)	Tessadori-Van Haaften neurodevelopmental syndrome 3	GUncertain significance
Select item 809888	NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)	H4C5, LOC129996027 (R46C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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