C0751083[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17556	NM_001822.7(CHN1):c.937G>A (p.Glu313Lys)	CHN1 (E313K +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 17555	NM_001822.7(CHN1):c.755C>A (p.Pro252Gln)	CHN1 (P252Q +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 29624	NM_001822.7(CHN1):c.754C>T (p.Pro252Ser)	CHN1 (P252S +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 17554	NM_001822.7(CHN1):c.682G>A (p.Gly228Ser)	CHN1 (G228S +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 17553	NM_001822.7(CHN1):c.668C>T (p.Ala223Val)	CHN1 (A223V +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 17552	NM_001822.7(CHN1):c.427T>C (p.Tyr143His)	CHN1 (Y143H +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GPathogenic
Select item 29623	NM_001822.7(CHN1):c.422C>T (p.Pro141Leu)	CHN1 (P141L +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GPathogenic
Select item 17551	NM_001822.7(CHN1):c.378T>G (p.Ile126Met)	CHN1 (I126M +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GPathogenic
Select item 17550	NM_001822.7(CHN1):c.60A>T (p.Leu20Phe)	CHN1 (L20F)	Single nucleotide variant (missense variant +2 more)	Duane retraction syndrome 2	GPathogenic
Select item 224629	NM_005461.4(MAFB):c.(?_391)_*(390_?)del	MAFB	Deletion	Duane syndrome type 1 +1 more	GPathogenic
Select item 224628	NM_005461.5(MAFB):c.803del (p.Asn268fs)	MAFB (N268fs)	Deletion (frameshift variant)	Duane syndrome type 1 +1 more	GPathogenic
Select item 224627	NM_005461.5(MAFB):c.644del (p.Gln215fs)	MAFB (Q215fs)	Deletion (frameshift variant)	Duane syndrome type 1 +1 more	GPathogenic
Select item 224626	NM_005461.5(MAFB):c.440del (p.Gly147fs)	MAFB (G147fs)	Deletion (frameshift variant)	Duane syndrome type 1 +1 more	GPathogenic