Related gene-specific medical variations for Gene (Select 3008) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024464	NM_005321.3(H1-4):c.410dup (p.Pro138fs)	H1-4 (P138fs)	Duplication (frameshift variant)	Rahman syndrome	GPathogenic
Select item 2690479	NM_005321.3(H1-4):c.548A>G (p.Lys183Arg)	H1-4 (K183R)	Single nucleotide variant (missense variant)	Rahman syndrome	GLikely benign
Select item 1696708	NM_005321.3(H1-4):c.526G>T (p.Ala176Ser)	H1-4 (A176S)	Single nucleotide variant (missense variant)	Rahman syndrome	GUncertain significance
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 992672	NM_005321.3(H1-4):c.416dup (p.Lys140fs)	H1-4 (K140fs)	Duplication (frameshift variant)	Rahman syndrome	Gnot provided
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 931645	NM_005321.3(H1-4):c.415A>G (p.Lys139Glu)	H1-4 (K139E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance

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