Related gene-specific medical variations for Gene (Select 85236) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283381	NM_003495.3(H4C9):c.262G>A (p.Val88Ile)	H2BC12, H4C9 (V88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104039	NM_003495.3(H4C9):c.57C>A (p.His19Gln)	H2BC12, H4C9 (H19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104038	NM_003495.3(H4C9):c.40G>A (p.Gly14Arg)	H2BC12, H4C9 (G14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104037	NM_003495.3(H4C9):c.307G>T (p.Gly103Cys)	H2BC12, H4C9 (G103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104036	NM_003495.3(H4C9):c.23G>C (p.Gly8Ala)	H2BC12, H4C9 (G8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104035	NM_003495.3(H4C9):c.22G>A (p.Gly8Ser)	H2BC12, H4C9 (G8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104034	NM_003495.3(H4C9):c.134A>G (p.Lys45Arg)	H2BC12, H4C9 (K45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623344	NM_003495.3(H4C9):c.271C>T (p.Leu91Phe)	H2BC12, H4C9 (L91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443866	NM_003495.3(H4C9):c.227A>G (p.His76Arg)	H2BC12, H4C9 (H76R)	Single nucleotide variant (missense variant +1 more)	Tessadori-Van Haaften neurodevelopmental syndrome 4	GPathogenic
Select item 2443865	NM_003495.3(H4C9):c.122G>T (p.Arg41Leu)	H2BC12, H4C9 (R41L)	Single nucleotide variant (missense variant +1 more)	Tessadori-Van Haaften neurodevelopmental syndrome 4	GPathogenic
Select item 780599	NM_003495.3(H4C9):c.306C>T (p.Gly102=)	H2BC12, H4C9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign