25302[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 1193917	NC_000016.10:g.57447089G>A	CIAPIN1, COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229725	NC_000016.10:g.57447326C>A	CIAPIN1, COQ9 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291333	NC_000016.10:g.57447393T>C	COQ9, LOC112469007	Single nucleotide variant	not provided	GBenign
Select item 320001	NM_020312.3(COQ9):c.-37C>G	LOC112469007, COQ9	Single nucleotide variant	Coenzyme Q10 deficiency	GUncertain significance
Select item 886670	NM_020312.4(COQ9):c.-27G>C	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320003	NM_020312.4(COQ9):c.-25C>T	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Coenzyme Q10 deficiency	GUncertain significance
Select item 320002	NM_020312.4(COQ9):c.-25C>G	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 514786	NM_020312.4(COQ9):c.-18G>C	LOC112469007, COQ9	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 382280	NM_020312.4(COQ9):c.-18G>A	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3357406	NM_020312.4(COQ9):c.-9G>C	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	COQ9-related disorder	GLikely benign
Select item 1438927	NM_020312.4(COQ9):c.5CGG[5] (p.Ala5dup)	COQ9, LOC112469007	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1465844	NM_020312.4(COQ9):c.5C>T (p.Ala2Val)	COQ9, LOC112469007 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591057	NM_020312.4(COQ9):c.5_7delinsTGA (p.Ala2_Ala3delinsValThr)	COQ9, LOC112469007	Indel (missense variant)	not provided	GUncertain significance
Select item 1934837	NM_020312.4(COQ9):c.9G>A (p.Ala3=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350593	NM_020312.4(COQ9):c.11C>T (p.Ala4Val)	COQ9, LOC112469007 (A4V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3009213	NM_020312.4(COQ9):c.12G>T (p.Ala4=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430700	NM_020312.4(COQ9):c.14C>A (p.Ala5Glu)	COQ9, LOC112469007 (A5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417926	NM_020312.4(COQ9):c.14C>G (p.Ala5Gly)	COQ9, LOC112469007 (A5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1910046	NM_020312.4(COQ9):c.14C>T (p.Ala5Val)	COQ9, LOC112469007 (A5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1944104	NM_020312.4(COQ9):c.17T>C (p.Val6Ala)	COQ9, LOC112469007 (V6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509392	NM_020312.4(COQ9):c.18A>G (p.Val6=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 887924	NM_020312.4(COQ9):c.20C>T (p.Ser7Phe)	COQ9, LOC112469007 (S7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1311636	NM_020312.4(COQ9):c.25G>C (p.Ala9Pro)	COQ9, LOC112469007 (A9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391794	NM_020312.4(COQ9):c.26C>T (p.Ala9Val)	LOC112469007, COQ9 (A9V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1963668	NM_020312.4(COQ9):c.27G>A (p.Ala9=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1522662	NM_020312.4(COQ9):c.28C>T (p.Leu10Phe)	COQ9, LOC112469007 (L10F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1561001	NM_020312.4(COQ9):c.33C>T (p.Gly11=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214242	NM_020312.4(COQ9):c.34C>G (p.Arg12Gly)	LOC112469007, COQ9 (R12G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268993	NM_020312.4(COQ9):c.35G>A (p.Arg12Gln)	COQ9, LOC112469007 (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1369063	NM_020312.4(COQ9):c.37G>A (p.Ala13Thr)	COQ9, LOC112469007 (A13T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3268992	NM_020312.4(COQ9):c.38C>A (p.Ala13Glu)	COQ9, LOC112469007 (A13E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1499705	NM_020312.4(COQ9):c.38C>G (p.Ala13Gly)	COQ9, LOC112469007 (A13G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366162	NM_020312.4(COQ9):c.38C>T (p.Ala13Val)	COQ9, LOC112469007 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438917	NM_020312.4(COQ9):c.40G>C (p.Gly14Arg)	COQ9, LOC112469007 (G14R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1943986	NM_020312.4(COQ9):c.48G>A (p.Arg16=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420690	NM_020312.4(COQ9):c.51C>T (p.Leu17=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939047	NM_020312.4(COQ9):c.55C>G (p.Gln19Glu)	COQ9, LOC112469007 (Q19E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002912	NM_020312.4(COQ9):c.71C>A (p.Pro24His)	COQ9, LOC112469007 (P24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481812	NM_020312.4(COQ9):c.71_72delinsAT (p.Pro24His)	COQ9, LOC112469007 (P24H)	Indel (missense variant)	not provided	GUncertain significance
Select item 887925	NM_020312.4(COQ9):c.71C>T (p.Pro24Leu)	COQ9, LOC112469007 (P24L)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 682119	NM_020312.4(COQ9):c.72C>T (p.Pro24=)	COQ9, LOC112469007	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027680	NM_020312.4(COQ9):c.73G>A (p.Val25Met)	COQ9, LOC112469007 (V25M)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 320004	NM_020312.4(COQ9):c.73+9del	COQ9, LOC112469007	Deletion (intron variant)	Coenzyme Q10 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1898352	NM_020312.4(COQ9):c.73+17G>A	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989236	NM_020312.4(COQ9):c.73+20G>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576813	NM_020312.4(COQ9):c.73+23del	COQ9	Deletion (intron variant)	not provided	GBenign
Select item 683585	NM_020312.4(COQ9):c.73+180T>C	COQ9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175424	NM_020312.4(COQ9):c.74-35G>A	COQ9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899557	NM_020312.4(COQ9):c.74-20C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136992	NM_020312.4(COQ9):c.74-13G>A	COQ9	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2704388	NM_020312.4(COQ9):c.74-10del	COQ9	Deletion (intron variant)	not provided	GLikely benign
Select item 1324161	NM_020312.4(COQ9):c.74-2A>G	COQ9	Single nucleotide variant (splice acceptor variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GLikely pathogenic
Select item 1049826	NM_020312.4(COQ9):c.76G>T (p.Ala26Ser)	COQ9 (A26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494377	NM_020312.4(COQ9):c.79C>T (p.Arg27Cys)	COQ9 (R27C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214240	NM_020312.4(COQ9):c.79C>G (p.Arg27Gly)	COQ9 (R27G)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GBenign/Likely benign
Select item 1425371	NM_020312.4(COQ9):c.80G>A (p.Arg27His)	COQ9 (R27H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029732	NM_020312.4(COQ9):c.85C>T (p.Arg29Ter)	COQ9 (R29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2339131	NM_020312.4(COQ9):c.86G>A (p.Arg29Gln)	COQ9 (R29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1978688	NM_020312.4(COQ9):c.88C>G (p.Gln30Glu)	COQ9 (Q30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915201	NM_020312.4(COQ9):c.96G>T (p.Leu32=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384822	NM_020312.4(COQ9):c.101C>T (p.Pro34Leu)	COQ9 (P34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136993	NM_020312.4(COQ9):c.102G>A (p.Pro34=)	COQ9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2187248	NM_020312.4(COQ9):c.104G>A (p.Arg35His)	COQ9 (R35H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944889	NM_020312.4(COQ9):c.113A>G (p.His38Arg)	COQ9 (H38R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541194	NM_020312.4(COQ9):c.116C>T (p.Ala39Val)	COQ9 (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2878975	NM_020312.4(COQ9):c.120A>C (p.Ser40=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946158	NM_020312.4(COQ9):c.122C>G (p.Ala41Gly)	COQ9 (A41G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199291	NM_020312.4(COQ9):c.124G>T (p.Val42Leu)	COQ9 (V42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946440	NM_020312.4(COQ9):c.128G>A (p.Gly43Glu)	COQ9 (G43E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036235	NM_020312.4(COQ9):c.132A>G (p.Leu44=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300747	NM_020312.4(COQ9):c.143A>G (p.Asp48Gly)	COQ9 (D48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1469883	NM_020312.4(COQ9):c.154C>G (p.Gln52Glu)	COQ9 (Q52E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2637678	NM_020312.4(COQ9):c.157C>T (p.Gln53Ter)	COQ9 (Q53*)	Single nucleotide variant (nonsense)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 1714044	NM_020312.4(COQ9):c.157C>G (p.Gln53Glu)	COQ9 (Q53E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468603	NM_020312.4(COQ9):c.161C>G (p.Pro54Arg)	COQ9 (P54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538152	NM_020312.4(COQ9):c.162T>G (p.Pro54=)	COQ9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887926	NM_020312.4(COQ9):c.163C>A (p.Pro55Thr)	COQ9 (P55T)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 1413526	NM_020312.4(COQ9):c.167A>G (p.Asn56Ser)	COQ9 (N56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214241	NM_020312.4(COQ9):c.184C>T (p.His62Tyr)	COQ9 (H62Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1938467	NM_020312.4(COQ9):c.187T>C (p.Ser63Pro)	COQ9 (S63P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509395	NM_020312.4(COQ9):c.192G>A (p.Glu64=)	COQ9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1451347	NM_020312.4(COQ9):c.196C>T (p.Gln66Ter)	COQ9 (Q66*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1937704	NM_020312.4(COQ9):c.202dup (p.Ala68fs)	COQ9 (A68fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1924901	NM_020312.4(COQ9):c.197_198del (p.Gln66fs)	COQ9 (Q66fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1914451	NM_020312.4(COQ9):c.202G>A (p.Ala68Thr)	COQ9 (A68T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163984	NM_020312.4(COQ9):c.210A>T (p.Lys70Asn)	COQ9 (K70N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468908	NM_020312.4(COQ9):c.220G>C (p.Glu74Gln)	COQ9 (E74Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958976	NM_020312.4(COQ9):c.233C>T (p.Ser78Leu)	COQ9 (S78L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997223	NM_020312.4(COQ9):c.235C>T (p.Pro79Ser)	COQ9 (P79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926430	NM_020312.4(COQ9):c.238C>G (p.Pro80Ala)	COQ9 (P80A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 320005	NM_020312.4(COQ9):c.240C>G (p.Pro80=)	COQ9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3047968	NM_020312.4(COQ9):c.242+3A>G	COQ9	Single nucleotide variant (intron variant)	COQ9-related disorder	GLikely benign
Select item 214244	NM_020312.4(COQ9):c.242+5G>A	COQ9	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2968622	NM_020312.4(COQ9):c.242+16C>T	COQ9	Single nucleotide variant (intron variant)	not provided	GLikely benign

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