"Eurofins Ntd Llc (ga)"[submitter] AND "MFSD8"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 570915	NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr)	MFSD8 (I492T +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 138226	NM_001371596.2(MFSD8):c.1351-9C>A	MFSD8	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7 +2 more	GConflicting classifications of pathogenicity
Select item 347541	NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu)	MFSD8 (S402L +8 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 129608	NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)	MFSD8 (G385R +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7 +3 more	GBenign/Likely benign
Select item 138223	NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7 +3 more	GBenign/Likely benign
Select item 284230	NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys)	MFSD8 (E336K +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 162378	NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)	MFSD8 (E336Q +8 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 502262	NM_001371596.2(MFSD8):c.998+1G>A	MFSD8	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 500267	NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 193764	NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn)	MFSD8 (D296N +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 199189	NM_001371596.2(MFSD8):c.863+4A>G	MFSD8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 198618	NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser)	MFSD8 (F219S +3 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 7 +2 more	GUncertain significance
Select item 449169	NM_001371596.2(MFSD8):c.592G>A (p.Val198Met)	MFSD8 (V198M +3 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 7 +2 more	GUncertain significance
Select item 198619	NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)	MFSD8 (G197D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 497481	NM_001371596.2(MFSD8):c.357C>T (p.Cys119=)	MFSD8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 285275	NM_001371596.2(MFSD8):c.230G>T (p.Gly77Val)	MFSD8 (G77V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 593632	NM_001371596.2(MFSD8):c.66A>G (p.Glu22=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196582	NM_001371596.2(MFSD8):c.63-4del	MFSD8	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596724	NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)	MFSD8	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502263	NM_001371596.2(MFSD8):c.1A>T (p.Met1Leu)	MFSD8 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21