ClinVar for MedGen (Select 863808) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068353	NM_001371596.2(MFSD8):c.863+5G>A	MFSD8	Single nucleotide variant (intron variant)	Macular dystrophy with central cone involvement	GUncertain significance
Select item 1895455	NM_001371596.2(MFSD8):c.698+2T>A	MFSD8	Single nucleotide variant (intron variant +1 more)	Macular dystrophy with central cone involvement	GPathogenic
Select item 1638792	NM_001371596.2(MFSD8):c.864-16A>T	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GBenign/Likely benign
Select item 1048170	NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr)	MFSD8 (N179Y +3 more)	Single nucleotide variant (missense variant +1 more)	Macular dystrophy with central cone involvement	GLikely pathogenic
Select item 872266	NM_001371596.2(MFSD8):c.754+1G>A	MFSD8	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic
Select item 846459	NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)	MFSD8 (R35*)	Single nucleotide variant (nonsense +1 more)	Macular dystrophy with central cone involvement +1 more	GPathogenic
Select item 802088	NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)	MFSD8 (P330fs +7 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GPathogenic/Likely pathogenic
Select item 626139	NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val)	MFSD8 (A2V)	Single nucleotide variant (missense variant +2 more)	Neuronal ceroid lipofuscinosis 7 +1 more	GUncertain significance
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 347542	NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe)	MFSD8 (L369F +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 206167	NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe)	MFSD8 (I39F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 206161	NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser)	MFSD8 (F379S +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7 +6 more	GUncertain significance
Select item 206156	NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile)	MFSD8 (T288I +8 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 206153	NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr)	MFSD8 (I226T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 206152	NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr)	MFSD8 (A218T +3 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 7 +3 more	GUncertain significance
Select item 206147	NM_001371596.2(MFSD8):c.343G>A (p.Val115Met)	MFSD8 (V115M +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7 +2 more	GUncertain significance
Select item 162382	NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)	MFSD8 (R482* +9 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7 +3 more	GPathogenic/Likely pathogenic
Select item 162380	NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His)	MFSD8 (D368H +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GPathogenic
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 162378	NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)	MFSD8 (E336Q +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7 +4 more	GConflicting classifications of pathogenicity
Select item 138227	NM_001371596.2(MFSD8):c.1351-9C>T	MFSD8	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7 +2 more	GBenign/Likely benign
Select item 138225	NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7 +3 more	GBenign/Likely benign
Select item 138222	NM_001371596.2(MFSD8):c.553+20C>T	MFSD8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 129611	NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)	MFSD8 (E22D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 65897	NM_001371596.2(MFSD8):c.754+2T>A	MFSD8	Single nucleotide variant (splice donor variant +1 more)	Neuronal ceroid lipofuscinosis 7 +2 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)	Neuronal ceroid lipofuscinosis +4 more	GPathogenic/Likely pathogenic

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Items: 26