LOC129993885[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 353888	NM_002495.4(NDUFS4):c.-22C>A	LOC129993885, NDUFS4	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 3043108	NM_002495.4(NDUFS4):c.-7C>T	LOC129993885, NDUFS4	Single nucleotide variant (5 prime UTR variant +1 more)	NDUFS4-related disorder	GLikely benign
Select item 382964	NM_002495.4(NDUFS4):c.-6A>C	NDUFS4, LOC129993885	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 214809	NM_002495.4(NDUFS4):c.-6A>T	LOC129993885, NDUFS4	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3251359	NM_002495.4(NDUFS4):c.1A>T (p.Met1Leu)	LOC129993885, NDUFS4 (M1L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1301341	NM_002495.4(NDUFS4):c.2T>C (p.Met1Thr)	LOC129993885, NDUFS4 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2442174	NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile)	LOC129993885, NDUFS4 (M1I)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 905818	NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)	LOC129993885, NDUFS4 (A2E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 905819	NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 419348	NM_002495.4(NDUFS4):c.10_12delinsCTC (p.Val4Leu)	LOC129993885, NDUFS4 (V4L)	Indel (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 214810	NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)	LOC129993885, NDUFS4 (V4L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2189938	NM_002495.4(NDUFS4):c.12_13delinsCC (p.Ser5Pro)	LOC129993885, NDUFS4 (S5P)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 129699	NM_002495.4(NDUFS4):c.12G>C (p.Val4=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +2 more	GBenign
Select item 214817	NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)	LOC129993885, NDUFS4 (S5P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 2901983	NM_002495.4(NDUFS4):c.15A>G (p.Ser5=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239848	NM_002495.4(NDUFS4):c.20C>G (p.Ser7Ter)	LOC129993885, NDUFS4 (S7*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2855330	NM_002495.4(NDUFS4):c.20C>A (p.Ser7Ter)	LOC129993885, NDUFS4 (S7*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1912032	NM_002495.4(NDUFS4):c.25G>C (p.Val9Leu)	LOC129993885, NDUFS4 (V9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2676991	NM_002495.4(NDUFS4):c.26del (p.Val9fs)	LOC129993885, NDUFS4 (V9fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1533839	NM_002495.4(NDUFS4):c.28C>T (p.Leu10=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799040	NM_002495.4(NDUFS4):c.36G>A (p.Gln12=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1392635	NM_002495.4(NDUFS4):c.38C>T (p.Thr13Met)	LOC129993885, NDUFS4 (T13M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1556167	NM_002495.4(NDUFS4):c.39G>A (p.Thr13=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978854	NM_002495.4(NDUFS4):c.42G>A (p.Leu14=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 6890	NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter)	LOC129993885, NDUFS4 (W15*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GPathogenic
Select item 2571749	NM_002495.4(NDUFS4):c.47G>T (p.Arg16Leu)	LOC129993885, NDUFS4 (R16L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3038229	NM_002495.4(NDUFS4):c.60G>C (p.Val20=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	NDUFS4-related disorder	GLikely benign
Select item 2009147	NM_002495.4(NDUFS4):c.61G>C (p.Ala21Pro)	LOC129993885, NDUFS4 (A21P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2829458	NM_002495.4(NDUFS4):c.63T>C (p.Ala21=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2055845	NM_002495.4(NDUFS4):c.68C>T (p.Ala23Val)	LOC129993885, NDUFS4 (A23V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993534	NM_002495.4(NDUFS4):c.72C>T (p.Ala24=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1028024	NM_002495.4(NDUFS4):c.73C>T (p.Leu25Phe)	LOC129993885, NDUFS4 (L25F)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 906327	NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)	LOC129993885, NDUFS4 (S26F)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 2784341	NM_002495.4(NDUFS4):c.78C>T (p.Ser26=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1961757	NM_002495.4(NDUFS4):c.78C>A (p.Ser26=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1028025	NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)	LOC129993885, NDUFS4 (V27D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2992892	NM_002495.4(NDUFS4):c.87G>A (p.Arg29=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2756493	NM_002495.4(NDUFS4):c.90T>C (p.Val30=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711767	NM_002495.4(NDUFS4):c.90T>A (p.Val30=)	LOC129993885, NDUFS4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879044	NM_002495.4(NDUFS4):c.98+9dup	LOC129993885, NDUFS4	Duplication (intron variant)	not provided	GLikely benign
Select item 2796808	NM_002495.4(NDUFS4):c.98+8A>T	LOC129993885, NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876085	NM_002495.4(NDUFS4):c.98+17_98+18del	LOC129993885, NDUFS4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2856576	NM_002495.4(NDUFS4):c.98+17A>G	LOC129993885, NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834425	NM_002495.4(NDUFS4):c.98+22del	LOC129993885, NDUFS4	Deletion (intron variant)	not provided	GBenign
Select item 2700514	NM_002495.4(NDUFS4):c.98+19T>A	LOC129993885, NDUFS4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244337	NM_002495.4(NDUFS4):c.98+126A>G	LOC129993885, NDUFS4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669914	NM_002495.4(NDUFS4):c.98+207G>T	LOC129993885, NDUFS4	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 52