"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NDUFS1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2766504	NM_005006.7(NDUFS1):c.2135A>G (p.Lys712Arg)	NDUFS1 (K655R +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 333781	NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	NDUFS1 (V506I +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 138480	NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +4 more	GConflicting classifications of pathogenicity
Select item 138479	NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)	NDUFS1 (L431V +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +5 more	GConflicting classifications of pathogenicity
Select item 129695	NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GBenign
Select item 801857	NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)	NDUFS1 (P376L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376865	NM_005006.7(NDUFS1):c.1186G>A (p.Glu396Lys)	NDUFS1 (E360K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138477	NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)	NDUFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 129696	NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)	NDUFS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 389480	NM_005006.7(NDUFS1):c.873-9G>A	NDUFS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214770	NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)	NDUFS1 (I177V +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 138473	NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)	NDUFS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 559163	NM_005006.7(NDUFS1):c.154-9del	NDUFS1	Deletion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GLikely benign
Select item 559162	NM_005006.7(NDUFS1):c.154-12_154-9del	NDUFS1	Deletion (intron variant)	not provided	GBenign
Select item 333789	NM_005006.7(NDUFS1):c.154-10_154-9del	NDUFS1	Deletion (intron variant)	Mitochondrial complex I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 281629	NM_005006.7(NDUFS1):c.154-11_154-9del	NDUFS1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 389479	NM_005006.7(NDUFS1):c.153+9A>G	NDUFS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign