COA3[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 3353472	NM_001040431.3(COA3):c.*8G>A	COA3	Single nucleotide variant (3 prime UTR variant)	COA3-related disorder	GLikely benign
Select item 2371341	NM_001040431.3(COA3):c.317C>T (p.Ser106Phe)	COA3 (S106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2786537	NM_001040431.3(COA3):c.306G>A (p.Arg102=)	COA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756031	NM_001040431.3(COA3):c.285CCGAGC[3] (p.Ala99_Leu100insArgAla)	COA3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2616303	NM_001040431.3(COA3):c.295G>C (p.Ala99Pro)	COA3 (A99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198435	NM_001040431.3(COA3):c.292C>G (p.Arg98Gly)	COA3 (R98G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182313	NM_001040431.3(COA3):c.287G>C (p.Arg96Pro)	COA3 (R96P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1904581	NM_001040431.3(COA3):c.287G>A (p.Arg96Gln)	COA3 (R96Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920959	NM_001040431.3(COA3):c.269_273del (p.Asp90fs)	COA3 (D90fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 14	GUncertain significance
Select item 2081591	NM_001040431.3(COA3):c.265G>A (p.Glu89Lys)	COA3 (E89K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3268406	NM_001040431.3(COA3):c.247C>G (p.Arg83Gly)	COA3 (R83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1998274	NM_001040431.3(COA3):c.221A>T (p.Tyr74Phe)	COA3 (Y74F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875161	NM_001040431.3(COA3):c.216T>C (p.Tyr72=)	COA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 190478	NM_001040431.3(COA3):c.215A>G (p.Tyr72Cys)	COA3 (Y72C)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 1923021	NM_001040431.3(COA3):c.215-16G>C	COA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2328553	NM_001040431.3(COA3):c.211A>G (p.Ile71Val)	COA3 (I71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1497774	NM_001040431.3(COA3):c.202G>T (p.Val68Leu)	COA3 (V68L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 190477	NM_001040431.3(COA3):c.199dup (p.Leu67fs)	COA3 (L67fs)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 2782176	NM_001040431.3(COA3):c.192C>T (p.Ile64=)	COA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3268409	NM_001040431.3(COA3):c.181G>A (p.Gly61Ser)	COA3 (G61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146991	NM_001040431.3(COA3):c.170A>G (p.Asn57Ser)	COA3 (N57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2700197	NM_001040431.3(COA3):c.154del (p.Arg52fs)	COA3 (R52fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2647804	NM_001040431.3(COA3):c.122C>T (p.Ala41Val)	COA3 (A41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021452	NM_001040431.3(COA3):c.113T>C (p.Met38Thr)	COA3 (M38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569217	NM_001040431.3(COA3):c.100C>A (p.Gln34Lys)	COA3 (Q34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239443	NM_001040431.3(COA3):c.69C>G (p.Ile23Met)	COA3, LOC130060927 (I23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1608466	NM_001040431.3(COA3):c.48G>A (p.Glu16=)	COA3, LOC130060927	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953246	NM_001040431.3(COA3):c.41G>T (p.Arg14Leu)	COA3, LOC130060927 (R14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268407	NM_001040431.3(COA3):c.26C>T (p.Pro9Leu)	COA3 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373574	NM_001040431.3(COA3):c.13G>A (p.Gly5Arg)	COA3, LOC130060928 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	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

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Items: 36