"HYCC1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359768	NM_032581.4(HYCC1):c.1555T>C (p.Ser519Pro)	HYCC1 (S519P)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GBenign
Select item 3030451	NM_032581.4(HYCC1):c.1536T>C (p.Pro512=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	HYCC1-related disorder	GLikely benign
Select item 1545671	NM_032581.4(HYCC1):c.1086G>C (p.Ser362=)	HYCC1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelination and Congenital Cataract +1 more	GLikely benign
Select item 702183	NM_032581.4(HYCC1):c.1064C>T (p.Ala355Val)	HYCC1 (A355V)	Single nucleotide variant (3 prime UTR variant +1 more)	HYCC1-related disorder +2 more	GLikely benign
Select item 3038772	NM_032581.4(HYCC1):c.992-898G>A	HYCC1 (G393D)	Single nucleotide variant (missense variant +1 more)	HYCC1-related disorder	GLikely benign
Select item 3056825	NM_032581.4(HYCC1):c.992-901A>G	HYCC1 (K392R)	Single nucleotide variant (missense variant +1 more)	HYCC1-related disorder	GLikely benign
Select item 3048526	NM_032581.4(HYCC1):c.992-967G>T	HYCC1 (G370V)	Single nucleotide variant (missense variant +1 more)	HYCC1-related disorder	GLikely benign
Select item 3035181	NM_032581.4(HYCC1):c.992-996C>T	HYCC1	Single nucleotide variant (synonymous variant +1 more)	HYCC1-related disorder	GLikely benign
Select item 3049131	NM_032581.4(HYCC1):c.992-1008C>T	HYCC1	Single nucleotide variant (synonymous variant +1 more)	HYCC1-related disorder	GLikely benign
Select item 3048857	NM_032581.4(HYCC1):c.921A>G (p.Pro307=)	HYCC1	Single nucleotide variant (synonymous variant)	HYCC1-related disorder	GLikely benign
Select item 704056	NM_032581.4(HYCC1):c.650G>A (p.Arg217Gln)	HYCC1 (R217Q)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +2 more	GBenign/Likely benign
Select item 767086	NM_032581.4(HYCC1):c.582C>T (p.Tyr194=)	HYCC1	Single nucleotide variant (synonymous variant)	HYCC1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 722379	NM_032581.4(HYCC1):c.334-4A>G	HYCC1	Single nucleotide variant (intron variant)	HYCC1-related disorder +1 more	GLikely benign
Select item 3032353	NM_032581.4(HYCC1):c.204G>A (p.Glu68=)	HYCC1	Single nucleotide variant (synonymous variant)	HYCC1-related disorder	GLikely benign
Select item 701831	NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)	HYCC1 (Y64C)	Single nucleotide variant (missense variant)	HYCC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 798150	NM_032581.4(HYCC1):c.19G>C (p.Gly7Arg)	HYCC1 (G7R)	Single nucleotide variant (missense variant)	HYCC1-related disorder +1 more	GLikely benign