thelypteris eggers - ClinVar - NCBI

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

Search results

Items: 15

The following term was not found in ClinVar: thelypteris.
Showing results for Thelypteris eggersii. Your search for Thelypteris eggersii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 937691	NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)	HSD3B2 (Q311*)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 1804657	NM_000198.4(HSD3B2):c.946C>T (p.Arg316Cys)	HSD3B2 (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 41022	NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	MPZ (G163R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8849	NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)	PSEN2 (T122P)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 8850	NM_000447.3(PSEN2):c.717G>A (p.Met239Ile)	PSEN2 (M239I)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GPathogenic
Select item 30103	NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	GATA4 (P407Q +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +5 more	GConflicting classifications of pathogenicity
Select item 363467	NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)	CHD7 (A1814T)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2136797	NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)	HSD17B3, SLC35D2-HSD17B3 (M47V)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 708567	NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)	HSD17B3, SLC35D2-HSD17B3 (R45W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 641278	NM_004959.5(NR5A1):c.251G>A (p.Arg84His)	NR5A1 (R84H)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +3 more	GPathogenic/Likely pathogenic
Select item 2635649	NM_018117.12(WDR11):c.3607G>A (p.Ala1203Thr)	WDR11 (A1203T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3487	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	WT1 (R250W +9 more)	Single nucleotide variant (missense variant +1 more)	Mesothelioma, malignant +9 more	GPathogenic/Likely pathogenic
Select item 1338469	NM_000044.6(AR):c.2197G>A (p.Asp733Asn)	AR (D201N +1 more)	Single nucleotide variant (missense variant)	Kennedy disease +2 more	GPathogenic/Likely pathogenic
Select item 9806	NM_000044.6(AR):c.2599G>A (p.Val867Met)	AR (V335M +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate +5 more	GPathogenic
Select item 279689	NM_000044.6(AR):c.2659A>G (p.Met887Val)	AR (M887V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity