ClinVar for MedGen (Select 724506) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061831	NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)	MCM3AP, MCM3AP-AS1 (L1706F)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 3061829	NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)	TUBB (G198R +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 3061815	NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)	TUBA1B (Y185C)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 3024413	NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)	CTNNA1 (D330A +10 more)	Single nucleotide variant (missense variant +1 more)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 3024412	NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)	MYH10 (N312S +2 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 3024408	NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)	MYH10 (G303V +2 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 3024396	NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)	FGF21, LOC109279247 (R45W)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 2301221	NM_006617.2(NES):c.23A>T (p.Glu8Val)	NES (E8V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 988580	NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg)	TUBA1A (M363R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 988579	NM_006009.4(TUBA1A):c.467G>A (p.Arg156His)	TUBA1A (R121H +1 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles +1 more	GPathogenic/Likely pathogenic
Select item 988578	NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp)	TUBA1A (H371D +1 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles +1 more	GPathogenic
Select item 522672	NM_176795.5(HRAS):c.500dup (p.Pro169fs)	HRAS, LRRC56 (P169fs +1 more)	Duplication (frameshift variant +1 more)	Congenital fibrosis of extraocular muscles +1 more	GUncertain significance
Select item 430312	NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser)	TUBB3 (G142S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 308604	NM_017641.3(KIF21A):c.-335C>G	KIF21A	Single nucleotide variant	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 308559	NM_001173464.2(KIF21A):c.3341-11dup	KIF21A	Duplication (intron variant)	Congenital fibrosis of extraocular muscles	GLikely benign
Select item 308534	NM_001173464.2(KIF21A):c.*690del	KIF21A	Deletion (3 prime UTR variant)	Congenital fibrosis of extraocular muscles	GBenign
Select item 308533	NM_001173464.2(KIF21A):c.*690dup	KIF21A	Duplication (3 prime UTR variant)	Congenital fibrosis of extraocular muscles +1 more	GUncertain significance
Select item 308530	NM_001173464.2(KIF21A):c.*845dup	KIF21A	Duplication (3 prime UTR variant)	Congenital fibrosis of extraocular muscles	GUncertain significance