Related gene-specific medical variations for Gene (Select 64979) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046895	NM_004553.6(NDUFS6):c.-1A>G	MRPL36, NDUFS6	Single nucleotide variant (5 prime UTR variant)	NDUFS6-related disorder	GLikely benign
Select item 2790577	NM_004553.6(NDUFS6):c.9G>C (p.Ala3=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2153173	NM_004553.6(NDUFS6):c.15G>A (p.Met5Ile)	MRPL36, NDUFS6 (M5I)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +1 more	GConflicting classifications of pathogenicity
Select item 2141811	NM_004553.6(NDUFS6):c.13A>G (p.Met5Val)	MRPL36, NDUFS6 (M5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138880	NM_004553.6(NDUFS6):c.17C>T (p.Thr6Ile)	MRPL36, NDUFS6 (T6I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1545864	NM_004553.6(NDUFS6):c.6G>A (p.Ala2=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095230	NM_004553.6(NDUFS6):c.6G>C (p.Ala2=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983422	NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg)	MRPL36, NDUFS6 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 904123	NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val)	NDUFS6, MRPL36 (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 727213	NM_004553.6(NDUFS6):c.9G>A (p.Ala3=)	MRPL36, NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211582	NM_004553.6(NDUFS6):c.4G>A (p.Ala2Thr)	MRPL36, NDUFS6 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance