ClinVar for MedGen (Select 854348) - ClinVar - NCBI

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

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697317	NM_000594.4(TNF):c.17T>A (p.Met6Lys)	TNF (M6K)	Single nucleotide variant (missense variant)	Migraine with or without aura, susceptibility to, 1	GUncertain significance
Select item 1654745	NM_001957.4(EDNRA):c.1034+19G>A	EDNRA	Single nucleotide variant (intron variant)	Mandibulofacial dysostosis with alopecia +2 more	GBenign/Likely benign
Select item 1263746	NM_000125.4(ESR1):c.1782G>A (p.Thr594=)	ESR1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 1256683	NM_001957.4(EDNRA):c.748-19_748-18insCT	EDNRA	Insertion (intron variant)	Mandibulofacial dysostosis with alopecia +2 more	GBenign
Select item 1250979	NM_000125.4(ESR1):c.30T>C (p.Ser10=)	ESR1	Single nucleotide variant (synonymous variant)	Estrogen resistance syndrome +4 more	GBenign
Select item 1166335	NM_001957.4(EDNRA):c.24A>G (p.Ala8=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	Migraine with or without aura, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 745811	NM_001957.4(EDNRA):c.1110T>C (p.Tyr370=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	Mandibulofacial dysostosis with alopecia +2 more	GBenign/Likely benign
Select item 723006	NM_001957.4(EDNRA):c.549-10T>C	EDNRA	Single nucleotide variant (intron variant)	Migraine with or without aura, susceptibility to, 1 +3 more	GLikely benign
Select item 721740	NM_001957.4(EDNRA):c.354G>A (p.Leu118=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 711201	NM_001957.4(EDNRA):c.1146A>G (p.Ser382=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	Migraine with or without aura, susceptibility to, 1 +3 more	GBenign/Likely benign