Related gene-specific medical variations for Gene (Select 144132) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065700	NM_144666.3(DNHD1):c.1236-1G>A	DNHD1	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 65	GUncertain significance
Select item 3064742	NM_144666.3(DNHD1):c.7831C>T (p.Arg2611Ter)	DNHD1 (R2611*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65	GLikely pathogenic
Select item 2442137	NM_144666.3(DNHD1):c.13001del (p.Glu4334fs)	DNHD1 (E4334fs)	Deletion (frameshift variant)	Spermatogenic failure 65	GLikely pathogenic
Select item 2440944	NM_144666.3(DNHD1):c.5662C>T (p.Leu1888=)	DNHD1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 65	GUncertain significance
Select item 2440943	NM_144666.3(DNHD1):c.8246T>C (p.Leu2749Pro)	DNHD1 (L2749P)	Single nucleotide variant (missense variant)	Spermatogenic failure 65	GUncertain significance
Select item 1342603	NM_144666.3(DNHD1):c.8519G>A (p.Arg2840Gln)	DNHD1 (R2840Q)	Single nucleotide variant (missense variant)	DNHD1-related Neurodevelopmental Disorder	GUncertain significance
Select item 1325593	NM_144666.3(DNHD1):c.1201C>A (p.Pro401Thr)	DNHD1 (P401T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325522	NM_144666.3(DNHD1):c.6868G>A (p.Ala2290Thr)	DNHD1 (A2290T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983334	NM_144666.3(DNHD1):c.10004A>G (p.His3335Arg)	DNHD1 (H3335R)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 931575	NM_144666.3(DNHD1):c.13285C>T (p.Arg4429Ter)	DNHD1 (R4429*)	Single nucleotide variant (nonsense)	See cases	GUncertain significance