Related gene-specific medical variations for Gene (Select 256471) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068056	NM_001371596.2(MFSD8):c.913G>A (p.Ala305Thr)	MFSD8 (A155T +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 3065104	NM_001371596.2(MFSD8):c.1348C>T (p.Gln450Ter)	MFSD8 (Q300* +8 more)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
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 2441383	NM_001371596.2(MFSD8):c.1025dup (p.Gly343fs)	MFSD8 (G238fs +7 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 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 1260288	NM_001358451.3(ABHD18):c.-201T>C	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252058	NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer)	MFSD8	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 1216033	NM_001358451.3(ABHD18):c.-150T>C	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 975447	NM_001371596.2(MFSD8):c.736A>T (p.Ser246Cys)	MFSD8 (S152C +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 930986	NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys)	MFSD8 (Y203C +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
Select item 671191	NM_001358451.3(ABHD18):c.-83G>C	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 514836	NM_001358451.3(ABHD18):c.-18+291C>T	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 347546	NM_001358451.3(ABHD18):c.-18+315C>G	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7 +1 more	GBenign