ClinVar for MedGen (Select 342358) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584877	NM_001098672.2(HEPHL1):c.641_644dup (p.Tyr215Ter)	HEPHL1 (Y215*)	Duplication (nonsense)	Pili torti-developmental delay-neurological abnormalities syndrome	GLikely pathogenic
Select item 1705100	NC_000011.9:g.(93754705_93778838)_(93779084_93796673)del	HEPHL1	Deletion	Pili torti-developmental delay-neurological abnormalities syndrome	GLikely pathogenic
Select item 1285338	NM_001098672.2(HEPHL1):c.3046-35G>T	HEPHL1	Single nucleotide variant (intron variant)	Pili torti-developmental delay-neurological abnormalities syndrome +1 more	GBenign
Select item 1285337	NM_001098672.2(HEPHL1):c.1232+9C>G	HEPHL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1285336	NM_001098672.2(HEPHL1):c.751A>G (p.Asn251Asp)	HEPHL1 (N251D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1065424	NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly)	HEPHL1 (D1017G)	Single nucleotide variant (missense variant)	Pili torti-developmental delay-neurological abnormalities syndrome	GUncertain significance
Select item 635196	NM_001098672.2(HEPHL1):c.3176T>C (p.Met1059Thr)	HEPHL1 (M1059T)	Single nucleotide variant (missense variant)	Pili torti-developmental delay-neurological abnormalities syndrome	GPathogenic
Select item 635195	NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr)	HEPHL1 (A355T)	Single nucleotide variant (missense variant)	Pili torti-developmental delay-neurological abnormalities syndrome	GPathogenic