Related gene-specific medical variations for Gene (Select 101927023) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275772	NM_022140.5(EPB41L4A):c.1004T>C (p.Ile335Thr)	EPB41L4A, LOC101927023 (I335T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275771	NM_022140.5(EPB41L4A):c.844A>G (p.Lys282Glu)	EPB41L4A, LOC101927023 (K282E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089422	NM_022140.5(EPB41L4A):c.947G>A (p.Arg316His)	EPB41L4A, LOC101927023 (R316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534703	NM_022140.5(EPB41L4A):c.905C>G (p.Ser302Cys)	EPB41L4A, LOC101927023 (S302C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470470	NM_022140.5(EPB41L4A):c.803A>G (p.Glu268Gly)	EPB41L4A, LOC101927023 (E268G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402141	NM_022140.5(EPB41L4A):c.1016G>A (p.Arg339Gln)	EPB41L4A, LOC101927023 (R339Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349620	NM_022140.5(EPB41L4A):c.1007A>G (p.Gln336Arg)	EPB41L4A, LOC101927023 (Q336R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344694	NM_022140.5(EPB41L4A):c.992G>A (p.Arg331Gln)	EPB41L4A, LOC101927023 (R331Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306240	NM_022140.5(EPB41L4A):c.862A>G (p.Ser288Gly)	EPB41L4A, LOC101927023 (S288G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277442	NM_022140.5(EPB41L4A):c.1025A>G (p.Gln342Arg)	EPB41L4A, LOC101927023 (Q342R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266729	NM_022140.5(EPB41L4A):c.997C>G (p.Leu333Val)	EPB41L4A, LOC101927023 (L333V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238600	NM_022140.5(EPB41L4A):c.1018C>T (p.Pro340Ser)	EPB41L4A, LOC101927023 (P340S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713857	NM_022140.5(EPB41L4A):c.879A>G (p.Thr293=)	EPB41L4A, LOC101927023	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign