284184[geneid] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 154635	GRCh38/hg38 17q25.3(chr17:81145383-81251829)x3	AATK, CEP131 +12 more	Copy number gain	See cases	GBenign
Select item 1231325	NM_001086521.2(NDUFAF8):c.-23C>T	LOC130061928, NDUFAF8	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1690644	NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu)	NDUFAF8, LOC130061928 (M1L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 34	GPathogenic
Select item 691643	NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val)	LOC130061928, NDUFAF8 (M1V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial disease	GPathogenic
Select item 2632039	NM_001086521.2(NDUFAF8):c.17C>A (p.Ala6Glu)	LOC130061928, NDUFAF8 (A6E)	Single nucleotide variant (missense variant +1 more)	NDUFAF8-related disorder	GUncertain significance
Select item 2252367	NM_001086521.2(NDUFAF8):c.19G>T (p.Val7Leu)	LOC130061928, NDUFAF8 (V7L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350535	NM_001086521.2(NDUFAF8):c.28C>T (p.Arg10Cys)	LOC130061928, NDUFAF8 (R10C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 691644	NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)	LOC130061929, NDUFAF8 +1 more (F18fs)	Duplication (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 3299050	NM_001086521.2(NDUFAF8):c.79G>A (p.Ala27Thr)	LOC130061929, NDUFAF8 (A27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1246030	NM_001086521.2(NDUFAF8):c.84+58G>A	LOC130061929, NDUFAF8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035285	NM_001086521.2(NDUFAF8):c.120G>T (p.Thr40=)	NDUFAF8	Single nucleotide variant (synonymous variant +1 more)	NDUFAF8-related disorder	GLikely benign
Select item 691641	NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu)	NDUFAF8 (F55L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial disease	GLikely pathogenic
Select item 2648446	NM_001086521.2(NDUFAF8):c.170C>A (p.Ala57Asp)	NDUFAF8 (A57D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1244593	NM_001086521.2(NDUFAF8):c.195+26C>G	NDUFAF8	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1263744	NM_001086521.2(NDUFAF8):c.195+84T>C	NDUFAF8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 691642	NM_001086521.2(NDUFAF8):c.195+271C>T	NDUFAF8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1238158	NM_001086521.2(NDUFAF8):c.196-65A>G	NDUFAF8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2395927	NM_001086521.2(NDUFAF8):c.203A>C (p.Lys68Thr)	NDUFAF8 (E69D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3059094	NM_001086521.2(NDUFAF8):c.*111C>T	NDUFAF8 (R114* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	NDUFAF8-related disorder	GBenign
Select item 1225139	NM_001086521.2(NDUFAF8):c.*203C>T	NDUFAF8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, FAAP100 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 38