"GeneDx"[submitter] AND "NDUFS6"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 1278703	NC_000005.10:g.1801063G>T	MRPL36, NDUFS6	Single nucleotide variant	not provided	GBenign
Select item 1248764	NC_000005.10:g.1801312G>C	MRPL36, NDUFS6	Single nucleotide variant	not provided	GBenign
Select item 1266183	NC_000005.10:g.1801313_1801314insG	MRPL36, NDUFS6	Insertion	not provided	GBenign
Select item 1253294	NC_000005.10:g.1801318A>G	MRPL36, NDUFS6	Single nucleotide variant	not provided	GBenign
Select item 389200	NM_004553.3(NDUFS6):c.-46A>G	MRPL36, NDUFS6	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 138493	NM_004553.4(NDUFS6):c.-12C>T	MRPL36, NDUFS6	Single nucleotide variant (genic upstream transcript variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
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 1676852	NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter)	NDUFS6 (N12*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 726873	NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)	NDUFS6 (L11V)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 516385	NM_004553.6(NDUFS6):c.51G>A (p.Ala17=)	NDUFS6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1702687	NM_004553.6(NDUFS6):c.85G>A (p.Gly29Arg)	NDUFS6 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502567	NM_004553.6(NDUFS6):c.92G>A (p.Arg31Gln)	NDUFS6 (R31Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382789	NM_004553.6(NDUFS6):c.96C>A (p.Val32=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1185223	NM_004553.6(NDUFS6):c.132+26A>C	NDUFS6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1200166	NM_004553.6(NDUFS6):c.132+272T>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683110	NM_004553.6(NDUFS6):c.132+273A>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238531	NM_004553.6(NDUFS6):c.132+309G>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683111	NM_004553.6(NDUFS6):c.133-206C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216493	NM_004553.6(NDUFS6):c.133-191C>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214098	NM_004553.6(NDUFS6):c.133-185G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189675	NM_004553.6(NDUFS6):c.133-109T>C	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204469	NM_004553.6(NDUFS6):c.133-82C>G	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504311	NM_004553.6(NDUFS6):c.133-2A>G	NDUFS6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 683112	NM_004553.6(NDUFS6):c.187-307G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676158	NM_004553.6(NDUFS6):c.187-84C>T	NDUFS6	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +1 more	GBenign
Select item 1185434	NM_004553.6(NDUFS6):c.187-53_187-50del	NDUFS6	Microsatellite (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +1 more	GBenign
Select item 353192	NM_004553.6(NDUFS6):c.198C>T (p.Asn66=)	NDUFS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506778	NM_004553.6(NDUFS6):c.218C>A (p.Ala73Glu)	NDUFS6 (A73E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214819	NM_004553.6(NDUFS6):c.229G>A (p.Val77Met)	NDUFS6 (V77M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214820	NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp)	NDUFS6 (R83W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +2 more	GConflicting classifications of pathogenicity
Select item 214821	NM_004553.6(NDUFS6):c.257C>T (p.Ala86Val)	NDUFS6 (A86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214823	NM_004553.6(NDUFS6):c.262G>A (p.Asp88Asn)	NDUFS6 (D88N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 214824	NM_004553.6(NDUFS6):c.305A>T (p.Asn102Ile)	NDUFS6 (N102I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1212375	NM_004553.6(NDUFS6):c.309+158C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683115	NM_004553.6(NDUFS6):c.309+208T>C	NDUFS6	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +1 more	GBenign
Select item 1206449	NM_004553.6(NDUFS6):c.310-300G>A	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218650	NM_004553.6(NDUFS6):c.310-288C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676282	NM_004553.6(NDUFS6):c.310-144C>T	NDUFS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353193	NM_004553.6(NDUFS6):c.310-15T>C	NDUFS6	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 9 +2 more	GBenign
Select item 2183970	NM_004553.6(NDUFS6):c.332C>T (p.Thr111Ile)	NDUFS6 (T111I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 353195	NM_004553.6(NDUFS6):c.*15C>T	NDUFS6	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 906499	NM_004553.6(NDUFS6):c.*46C>T	NDUFS6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1214946	NC_000005.10:g.1816108A>G	NDUFS6	Single nucleotide variant	not provided	GLikely benign
Select item 1192781	NC_000005.10:g.1816191G>A	NDUFS6	Single nucleotide variant	not provided	GLikely benign
Select item 253945	GRCh37/hg19 5p15.33(chr5:1460725-1944457)x1	IRX4, LPCAT1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253596	GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 253478	GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	See cases	GPathogenic

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Items: 52