ClinVar (all) for Orgtrack (Select 506234) - ClinVar

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

Links from Orgtrack

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627628	NM_001347886.2(DNAH3):c.6835T>C (p.Phe2279Leu)	DNAH3 (F2279L +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 18	GLikely pathogenic
Select item 2627627	NM_001347886.2(DNAH3):c.10122G>A (p.Trp3374Ter)	DNAH3 (W3374* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 18	GLikely pathogenic
Select item 2627626	NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)	DNAH3 (G1669S +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 18	GPathogenic
Select item 2627625	NM_001347886.2(DNAH3):c.10301G>A (p.Arg3434Gln)	DNAH3 (R3434Q +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 18	GLikely pathogenic
Select item 2464391	NM_001347886.2(DNAH3):c.8833C>T (p.Arg2945Cys)	DNAH3 (R2945C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2396145	NM_001347886.2(DNAH3):c.7339G>A (p.Asp2447Asn)	DNAH3 (D2493N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1343825	NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly)	PNLDC1 (R47G +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 57	GPathogenic
Select item 988662	NM_001136046.3(ZMYND15):c.1650del (p.Glu551fs)	ZMYND15 (E512fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 14	GPathogenic
Select item 982305	NM_001136046.3(ZMYND15):c.1209T>A (p.Tyr403Ter)	ZMYND15 (Y403*)	Single nucleotide variant (nonsense)	Spermatogenic failure 14	GPathogenic
Select item 982304	NM_001136046.3(ZMYND15):c.1622_1636delinsCCAC (p.Leu541fs)	ZMYND15 (L502fs +1 more)	Indel (frameshift variant)	Spermatogenic failure 14	GPathogenic
Select item 917481	NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val)	DNAAF6 (G97V)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 917480	NM_001370.2(DNAH6):c.6582C>A (p.Asp2194Glu)	DNAH6 (D2194E)	Single nucleotide variant (missense variant)	Abnormal spermatogenesis	GUncertain significance
Select item 870128	NM_001321739.2(M1AP):c.1435-1G>A	M1AP	Single nucleotide variant (splice acceptor variant)	Spermatogenesis maturation arrest	GPathogenic
Select item 870125	NM_001370.2(DNAH6):c.11258G>A (p.Gly3753Asp)	DNAH6 (G3753D)	Single nucleotide variant (missense variant)	Abnormal spermatogenesis	GUncertain significance
Select item 870124	NM_080746.3(RPL10L):c.257A>C (p.His86Pro)	RPL10L (H86P)	Single nucleotide variant (missense variant)	Spermatogenesis maturation arrest	GLikely pathogenic
Select item 870123	NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs)	DNAAF6	Deletion (splice donor variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 870097	NM_024867.4(SPEF2):c.2507+5del	SPEF2	Deletion (intron variant)	Primary ciliary dyskinesia	GPathogenic
Select item 694534	NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)	LOC100129175, CFAP65 (E1781*)	Single nucleotide variant (nonsense)	Spermatogenic failure 40	GPathogenic
Select item 548153	NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg)	SRD5A2 (G196R)	Single nucleotide variant (missense variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 548144	NM_000044.6(AR):c.2450-6C>G	AR	Single nucleotide variant (intron variant)	Androgen resistance syndrome +1 more	GPathogenic
Select item 548143	NM_000348.4(SRD5A2):c.218del (p.Leu73fs)	SRD5A2 (L73fs)	Deletion (frameshift variant)	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	GPathogenic
Select item 522614	NM_023067.4(FOXL2):c.462_468del (p.Pro156fs)	FOXL2 (P156fs)	Deletion (frameshift variant)	Premature ovarian failure 3	GPathogenic
Select item 503493	NM_023067.4(FOXL2):c.988dup (p.Ala330fs)	FOXL2 (A330fs)	Duplication (frameshift variant)	Premature ovarian failure 3	GPathogenic
Select item 430588	NM_001282717.2(STAG3):c.1573+5G>A	STAG3	Single nucleotide variant (intron variant)	Premature ovarian failure 8	GPathogenic
Select item 427905	NM_014290.3(TDRD7):c.328dup (p.Thr110fs)	TDRD7 (T110fs +1 more)	Duplication (frameshift variant)	Cataract 36	GPathogenic
Select item 427904	NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter)	TDRD7 (Y156* +1 more)	Duplication (nonsense)	Cataract 36	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 26