"Invitae"[submitter] AND "LOC113788297"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 738240	NM_152416.4(NDUFAF6):c.9C>T (p.Ala3=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1897384	NM_152416.4(NDUFAF6):c.11C>A (p.Ser4Tyr)	LOC113788297, NDUFAF6 (S4Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2880136	NM_152416.4(NDUFAF6):c.12C>T (p.Ser4=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2000725	NM_152416.4(NDUFAF6):c.15G>A (p.Ala5=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2140444	NM_152416.4(NDUFAF6):c.18C>A (p.His6Gln)	LOC113788297, NDUFAF6 (H6Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1901337	NM_152416.4(NDUFAF6):c.20G>C (p.Gly7Ala)	LOC113788297, NDUFAF6 (G7A)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1315671	NM_152416.4(NDUFAF6):c.20G>T (p.Gly7Val)	LOC113788297, NDUFAF6 (G7V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1419720	NM_152416.4(NDUFAF6):c.29G>A (p.Trp10Ter)	LOC113788297, NDUFAF6 (W10*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 1416956	NM_152416.4(NDUFAF6):c.32G>A (p.Gly11Glu)	LOC113788297, NDUFAF6 (G11E)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2126977	NM_152416.4(NDUFAF6):c.41G>T (p.Arg14Leu)	LOC113788297, NDUFAF6 (R14L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1898235	NM_152416.4(NDUFAF6):c.41G>C (p.Arg14Pro)	LOC113788297, NDUFAF6 (R14P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2007183	NM_152416.4(NDUFAF6):c.42G>A (p.Arg14=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2198095	NM_152416.4(NDUFAF6):c.43C>T (p.Leu15Phe)	LOC113788297, NDUFAF6 (L15F)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1208852	NM_152416.4(NDUFAF6):c.48C>G (p.Gly16=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign/Likely benign
Select item 2170068	NM_152416.4(NDUFAF6):c.51C>T (p.Ile17=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 136608	NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=)	LOC113788297, NDUFAF6	Single nucleotide variant (intron variant +3 more)	not specified +1 more	GBenign
Select item 681583	NM_152416.4(NDUFAF6):c.58C>T (p.Leu20=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1910515	NM_152416.4(NDUFAF6):c.66C>T (p.Cys22=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2081868	NM_152416.4(NDUFAF6):c.67C>T (p.Arg23Cys)	LOC113788297, NDUFAF6 (R23C)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2019679	NM_152416.4(NDUFAF6):c.75G>A (p.Pro25=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1988700	NM_152416.4(NDUFAF6):c.82G>C (p.Gly28Arg)	NDUFAF6, LOC113788297 (G28R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 214210	NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)	LOC113788297, NDUFAF6 (G28A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +4 more	GLikely benign
Select item 2012297	NM_152416.4(NDUFAF6):c.91G>C (p.Ala31Pro)	LOC113788297, NDUFAF6 (A31P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1034316	NM_152416.4(NDUFAF6):c.92C>G (p.Ala31Gly)	LOC113788297, NDUFAF6 (A31G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 596994	NM_152416.4(NDUFAF6):c.97A>G (p.Met33Val)	LOC113788297, NDUFAF6 (M33V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1443113	NM_152416.4(NDUFAF6):c.104G>A (p.Arg35Gln)	LOC113788297, NDUFAF6 (R35Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1374079	NM_152416.4(NDUFAF6):c.112G>C (p.Gly38Arg)	LOC113788297, NDUFAF6 (G38R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1063770	NM_152416.4(NDUFAF6):c.128G>A (p.Gly43Glu)	LOC113788297, NDUFAF6 (G43E)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1957237	NM_152416.4(NDUFAF6):c.147_159del (p.Ser50fs)	LOC113788297, NDUFAF6 (S50fs)	Deletion (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 1973440	NM_152416.4(NDUFAF6):c.151G>A (p.Gly51Arg)	LOC113788297, NDUFAF6 (G51R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1919780	NM_152416.4(NDUFAF6):c.151G>T (p.Gly51Ter)	LOC113788297, NDUFAF6 (G51*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 1414528	NM_152416.4(NDUFAF6):c.186G>A (p.Leu62=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1942333	NM_152416.4(NDUFAF6):c.195G>A (p.Leu65=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign

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Items: 33