"HMBS-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1165371	NC_000011.10:g.119084613G>A	HMBS	Single nucleotide variant	HMBS-related disorder +1 more	GBenign
Select item 3042947	NM_000190.4(HMBS):c.34-25T>C	HMBS	Single nucleotide variant (intron variant)	HMBS-related disorder	GLikely benign
Select item 1309502	NM_000190.4(HMBS):c.67G>A (p.Val23Met)	HMBS (V23M +1 more)	Single nucleotide variant (missense variant)	HMBS-related disorder +2 more	GUncertain significance
Select item 161252	NM_000190.4(HMBS):c.257A>T (p.Glu86Val)	HMBS (E69V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 724066	NM_000190.4(HMBS):c.258G>A (p.Glu86=)	HMBS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632753	NM_000190.4(HMBS):c.267-9T>G	HMBS	Single nucleotide variant (intron variant)	HMBS-related disorder	GUncertain significance
Select item 1879217	NM_000190.4(HMBS):c.344+33G>T	HMBS	Single nucleotide variant (intron variant)	HMBS-related disorder +1 more	GLikely benign
Select item 302729	NM_000190.4(HMBS):c.345-9C>T	HMBS	Single nucleotide variant (intron variant)	HMBS-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1486	NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)	HMBS (R149* +1 more)	Single nucleotide variant (nonsense)	HMBS-related disorder +2 more	GPathogenic
Select item 2076605	NM_000190.4(HMBS):c.569C>T (p.Thr190Ile)	HMBS (T173I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2628948	NM_000190.4(HMBS):c.602G>A (p.Arg201Gln)	HMBS (R146Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 642877	NM_000190.4(HMBS):c.673C>T (p.Arg225Ter)	HMBS (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	HMBS-related disorder +1 more	GPathogenic
Select item 763261	NM_000190.4(HMBS):c.772-17A>G	HMBS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1030659	NM_000190.4(HMBS):c.826-2A>T	HMBS	Single nucleotide variant (splice acceptor variant)	HMBS-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 302734	NM_000190.4(HMBS):c.1020C>T (p.Asn340=)	HMBS	Single nucleotide variant (synonymous variant)	HMBS-related disorder +2 more	GBenign/Likely benign