ClinVar for MedGen (Select 1794277) - ClinVar

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Items: 21

	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 2053035	NM_144666.3(DNHD1):c.12142C>T (p.Arg4048Ter)	DNHD1 (R4048*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2047592	NM_144666.3(DNHD1):c.3457G>T (p.Glu1153Ter)	DNHD1 (E1153*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65 +1 more	GConflicting classifications of pathogenicity
Select item 1693250	NM_144666.3(DNHD1):c.14234T>C (p.Val4745Ala)	DNHD1 (V4745A)	Single nucleotide variant (missense variant)	Spermatogenic failure 65	GUncertain significance
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 1693248	NM_144666.3(DNHD1):c.4141C>T (p.Gln1381Ter)	DNHD1 (Q1381*)	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 1693246	NM_144666.3(DNHD1):c.9649C>T (p.Arg3217Ter)	DNHD1 (R3217*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65	GLikely pathogenic
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 1334453	NM_144666.3(DNHD1):c.522_525del (p.Arg174fs)	DNHD1 (R174fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1334452	NM_144666.3(DNHD1):c.8909A>G (p.Tyr2970Cys)	DNHD1 (Y2970C)	Single nucleotide variant (missense variant)	Spermatogenic failure 65	GPathogenic
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 1334450	NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter)	DNHD1 (Y2166*)	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 774620	NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter)	DNHD1 (E947*)	Single nucleotide variant (nonsense)	Spermatogenic failure 65 +1 more	GLikely benign
Select item 742167	NM_144666.3(DNHD1):c.4060G>A (p.Ala1354Thr)	DNHD1 (A1354T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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

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Links from MedGen

Items: 21