"Baylor Genetics"[submitter] AND "DHDDS"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1214981	NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)	DHDDS (R37C)	Single nucleotide variant (missense variant +1 more)	Developmental delay and seizures with or without movement abnormalities +2 more	GPathogenic
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +3 more	GPathogenic
Select item 2674801	NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)	DHDDS (S88fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 59	GPathogenic/Likely pathogenic
Select item 1878787	NM_205861.3(DHDDS):c.323+2_323+5del	DHDDS	Deletion (splice donor variant)	Retinitis pigmentosa 59 +1 more	GConflicting classifications of pathogenicity
Select item 3241316	NM_205861.3(DHDDS):c.324-1G>T	DHDDS	Single nucleotide variant (splice acceptor variant +1 more)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 488195	NM_205861.3(DHDDS):c.441-24A>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 2000109	NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)	DHDDS (W78* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 59	GPathogenic/Likely pathogenic
Select item 2674800	NM_205861.3(DHDDS):c.568A>T (p.Lys190Ter)	DHDDS (K151* +3 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 570739	NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)	DHDDS (R205Q +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59 +2 more	GPathogenic
Select item 1297155	NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala)	DHDDS (T113A +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 1066115	NM_205861.3(DHDDS):c.658-2A>G	DHDDS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 59 +1 more	GLikely pathogenic
Select item 2674802	NM_205861.3(DHDDS):c.665_668del (p.His222fs)	DHDDS (H129fs +3 more)	Deletion (frameshift variant)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 2674799	NM_205861.3(DHDDS):c.705T>A (p.Tyr235Ter)	DHDDS (Y142* +3 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 1028353	NM_205861.3(DHDDS):c.711T>G (p.Phe237Leu)	DHDDS (F203L +3 more)	Single nucleotide variant (missense variant)	Developmental delay and seizures with or without movement abnormalities	GUncertain significance