"FECH-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031362	NM_000140.5(FECH):c.1152G>A (p.Leu384=)	FECH	Single nucleotide variant (synonymous variant)	FECH-related disorder	GLikely benign
Select item 1561579	NM_000140.5(FECH):c.1146C>T (p.Ala382=)	FECH	Single nucleotide variant (synonymous variant)	FECH-related disorder +1 more	GLikely benign
Select item 2910597	NM_000140.5(FECH):c.949G>A (p.Glu317Lys)	FECH (E317K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 327425	NM_000140.5(FECH):c.913-7C>T	FECH	Single nucleotide variant (intron variant)	FECH-related disorder +2 more	GBenign/Likely benign
Select item 1069596	NM_000140.5(FECH):c.901_902del (p.Trp301fs)	FECH (W229fs +3 more)	Microsatellite (frameshift variant)	FECH-related disorder +2 more	GPathogenic
Select item 2631286	NM_000140.5(FECH):c.835G>A (p.Glu279Lys)	FECH (E207K +3 more)	Single nucleotide variant (missense variant)	FECH-related disorder	GUncertain significance
Select item 2069985	NM_000140.5(FECH):c.384C>T (p.Gly128=)	FECH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3049947	NM_000140.5(FECH):c.315T>C (p.Asn105=)	FECH	Single nucleotide variant (synonymous variant)	FECH-related disorder	GLikely benign
Select item 3033502	NM_000140.5(FECH):c.315-1G>C	FECH	Single nucleotide variant (splice acceptor variant)	FECH-related disorder	GLikely pathogenic
Select item 1599190	NM_000140.5(FECH):c.163G>A (p.Gly55Ser)	FECH (G55S)	Single nucleotide variant (missense variant +1 more)	FECH-related disorder +1 more	GBenign
Select item 2857092	NM_000140.5(FECH):c.140C>G (p.Thr47Arg)	FECH (T47R)	Single nucleotide variant (missense variant +1 more)	FECH-related disorder +1 more	GLikely benign