ClinVar for MedGen (Select 1684778) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582766	NM_173628.4(DNAH17):c.7752+2T>A	DNAH17	Single nucleotide variant (splice donor variant)	Spermatogenic failure 39	GLikely pathogenic
Select item 2499678	NM_173628.4(DNAH17):c.6389C>T (p.Ala2130Val)	DNAH17, DNAH17-AS1 +1 more (A2130V)	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 39	GUncertain significance
Select item 2441656	NM_173628.4(DNAH17):c.2869G>T (p.Glu957Ter)	DNAH17, LOC126862656 (E957*)	Single nucleotide variant (nonsense)	Spermatogenic failure 39	GLikely pathogenic
Select item 2401284	NM_173628.4(DNAH17):c.7144G>C (p.Glu2382Gln)	DNAH17, DNAH17-AS1 (E2382Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 39 +1 more	GUncertain significance
Select item 1698435	NM_173628.4(DNAH17):c.[11803C>T;6308C>T]	DNAH17, DNAH17-AS1 +1 more (A2103V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Spermatogenic failure 39	GPathogenic
Select item 1698434	NM_173628.4(DNAH17):c.5707C>T (p.Arg1903Cys)	DNAH17, DNAH17-AS1 (R1903C)	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 39	GPathogenic
Select item 1696866	NM_173628.4(DNAH17):c.5408G>A (p.Cys1803Tyr)	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 39	GPathogenic
Select item 1206003	NM_173628.4(DNAH17):c.11679A>G (p.Gly3893=)	DNAH17	Single nucleotide variant (synonymous variant)	Spermatogenic failure 39 +1 more	GLikely benign
Select item 692269	NM_173628.4(DNAH17):c.[10496C>T;10784T>C]	DNAH17 (P3499L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 39	GLikely pathogenic
Select item 692268	NM_173628.4(DNAH17):c.7994_8012del (p.Gly2665fs)	DNAH17 (G2665fs)	Deletion (frameshift variant)	Spermatogenic failure 39	GPathogenic
Select item 692267	NM_173628.4(DNAH17):c.1293_1294del (p.Tyr431_Lys432delinsTer)	DNAH17	Microsatellite (nonsense)	Spermatogenic failure 39	GPathogenic
Select item 692266	NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr)	DNAH17, DNAH17-AS1 (C1829Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 39	GPathogenic