"PreventionGenetics, part of Exact Sciences"[submitter] AND "SURF1"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 379683	NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)	SURF1 (R295C +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 456667	NM_003172.4(SURF1):c.879C>T (p.Phe293=)	SURF1	Single nucleotide variant (synonymous variant)	SURF1-related disorder +2 more	GLikely benign
Select item 761945	NM_003172.4(SURF1):c.855A>G (p.Thr285=)	SURF1	Single nucleotide variant (synonymous variant)	SURF1-related disorder +1 more	GLikely benign
Select item 12770	NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	SURF1 (S282fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +11 more	GPathogenic
Select item 2146090	NM_003172.4(SURF1):c.573C>T (p.Thr191=)	SURF1	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GLikely benign
Select item 914051	NM_003172.4(SURF1):c.507C>T (p.Thr169=)	SURF1	Single nucleotide variant (synonymous variant)	SURF1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 215237	NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)	SURF1	Indel (5 prime UTR variant +1 more)	SURF1-related disorder +4 more	GPathogenic
Select item 643552	NM_003172.4(SURF1):c.281dup (p.Leu94fs)	SURF1 (L94fs)	Duplication (5 prime UTR variant +1 more)	Leigh syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1093120	NM_003172.4(SURF1):c.225C>T (p.Gly75=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +1 more	GLikely benign
Select item 2999188	NM_003172.4(SURF1):c.204C>T (p.Leu68=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	SURF1-related disorder +1 more	GLikely benign
Select item 2176118	NM_003172.4(SURF1):c.168G>A (p.Ala56=)	SURF1	Single nucleotide variant (5 prime UTR variant +1 more)	SURF1-related disorder +1 more	GLikely benign