"SIB Swiss Institute of Bioinformatics"[submitter] AND "DNHD1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334454	NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln)	DNHD1 (R304Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 65	GLikely pathogenic
Select item 722069	NM_144666.3(DNHD1):c.4072C>T (p.Arg1358Cys)	DNHD1 (R1358C)	Single nucleotide variant (missense variant)	Spermatogenic failure 65 +1 more	GConflicting classifications of pathogenicity
Select item 1693248	NM_144666.3(DNHD1):c.4141C>T (p.Gln1381Ter)	DNHD1 (Q1381*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65	GLikely pathogenic
Select item 1334449	NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys)	DNHD1 (R1854C)	Single nucleotide variant (missense variant)	Spermatogenic failure 65	GLikely pathogenic
Select item 1334450	NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter)	DNHD1 (Y2166*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65	GLikely pathogenic
Select item 1334451	NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter)	DNHD1 (R2928*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65	GLikely pathogenic
Select item 1693246	NM_144666.3(DNHD1):c.9649C>T (p.Arg3217Ter)	DNHD1 (R3217*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65	GLikely pathogenic
Select item 1693249	NM_144666.3(DNHD1):c.12453G>A (p.Trp4151Ter)	DNHD1 (W4151*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65	GLikely pathogenic
Select item 1693247	NM_144666.3(DNHD1):c.12473A>G (p.His4158Arg)	DNHD1 (H4158R)	Single nucleotide variant (missense variant)	Spermatogenic failure 65	GUncertain significance
Select item 1693250	NM_144666.3(DNHD1):c.14234T>C (p.Val4745Ala)	DNHD1 (V4745A)	Single nucleotide variant (missense variant)	Spermatogenic failure 65	GUncertain significance