"Revvity Omics, Revvity"[submitter] AND "MFSD8"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983438	NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)	MFSD8 (R360Q +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 418295	NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)	MFSD8 (M454T +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7 +3 more	GPathogenic/Likely pathogenic
Select item 1005	NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	MFSD8 (P412L +8 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 162379	NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)	MFSD8 (E381* +8 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7 +3 more	GPathogenic
Select item 1895607	NM_001371596.2(MFSD8):c.1102+1G>A	MFSD8	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2441383	NM_001371596.2(MFSD8):c.1025dup (p.Gly343fs)	MFSD8 (G238fs +7 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 162378	NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)	MFSD8 (E336Q +8 more)	Single nucleotide variant (missense variant)	MFSD8-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1003	NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter)	MFSD8 (Y298* +8 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2689426	NM_001371596.2(MFSD8):c.890T>C (p.Met297Thr)	MFSD8 (M147T +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006	NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)	MFSD8 (T294K +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7 +2 more	GPathogenic/Likely pathogenic
Select item 504888	NM_001371596.2(MFSD8):c.863+1G>A	MFSD8	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 7 +3 more	GPathogenic
Select item 2433742	NM_001371596.2(MFSD8):c.547G>T (p.Gly183Cys)	MFSD8 (G138C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1001570	NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)	MFSD8 (R139C +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 2433743	NM_001371596.2(MFSD8):c.290G>T (p.Trp97Leu)	MFSD8 (W52L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 641252	NM_001371596.2(MFSD8):c.233G>A (p.Trp78Ter)	MFSD8 (W78* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7 +1 more	GPathogenic
Select item 206143	NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)	MFSD8 (P69L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2112591	NM_001371596.2(MFSD8):c.150T>C (p.Ser50=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GConflicting classifications of pathogenicity