19693[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	BBLN, CERCAM +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 1194820	NC_000009.12:g.128322349C>T	LOC130002703, TRUB2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1186725	NC_000009.12:g.128322588T>A	LOC130002703, COQ4	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 381170	NM_016035.4(COQ4):c.-25C>T	COQ4	Single nucleotide variant	not specified +1 more	GBenign
Select item 385011	NM_016035.5(COQ4):c.-20C>G	COQ4	Single nucleotide variant (5 prime UTR variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GLikely benign
Select item 506777	NM_016035.5(COQ4):c.-17C>T	COQ4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509356	NM_016035.5(COQ4):c.-12A>G	COQ4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514811	NM_016035.5(COQ4):c.-11C>A	COQ4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1033389	NM_016035.5(COQ4):c.1A>G (p.Met1Val)	COQ4 (M1V)	Single nucleotide variant (missense variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2128693	NM_016035.5(COQ4):c.2T>G (p.Met1Arg)	COQ4 (M1R)	Single nucleotide variant (missense variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1029574	NM_016035.5(COQ4):c.2T>C (p.Met1Thr)	COQ4 (M1T)	Single nucleotide variant (missense variant +1 more)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely pathogenic
Select item 2045787	NM_016035.5(COQ4):c.10C>T (p.Leu4=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 1594688	NM_016035.5(COQ4):c.12G>C (p.Leu4=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 642163	NM_016035.5(COQ4):c.17G>A (p.Arg6His)	COQ4 (R6H)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GUncertain significance
Select item 1455564	NM_016035.5(COQ4):c.19_20del (p.Pro7fs)	COQ4 (P7fs)	Deletion (frameshift variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GPathogenic
Select item 732695	NM_016035.5(COQ4):c.18C>T (p.Arg6=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 1912201	NM_016035.5(COQ4):c.19C>T (p.Pro7Ser)	COQ4 (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 280320	NM_016035.5(COQ4):c.23_33del (p.Val8fs)	COQ4 (V8fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2010333	NM_016035.5(COQ4):c.23T>A (p.Val8Asp)	COQ4 (V8D)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 3010573	NM_016035.5(COQ4):c.24C>T (p.Val8=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2014964	NM_016035.5(COQ4):c.28C>T (p.Arg10Cys)	COQ4 (R10C)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1403584	NM_016035.5(COQ4):c.29G>C (p.Arg10Pro)	COQ4 (R10P)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2845845	NM_016035.5(COQ4):c.31C>A (p.Arg11=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 476178	NM_016035.5(COQ4):c.32G>C (p.Arg11Pro)	COQ4 (R11P)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1545779	NM_016035.5(COQ4):c.42G>T (p.Gly14=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 576758	NM_016035.5(COQ4):c.44T>C (p.Leu15Pro)	COQ4 (L15P)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 476183	NM_016035.5(COQ4):c.47C>G (p.Pro16Arg)	COQ4 (P16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 476184	NM_016035.5(COQ4):c.48G>C (p.Pro16=)	COQ4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1412817	NM_016035.5(COQ4):c.50G>A (p.Gly17Asp)	COQ4 (G17D)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1968501	NM_016035.5(COQ4):c.54A>T (p.Leu18=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 3076320	NM_016035.5(COQ4):c.55C>T (p.Gln19Ter)	COQ4 (Q19*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 380449	NM_016035.5(COQ4):c.59G>A (p.Arg20Gln)	COQ4 (R20Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1568153	NM_016035.5(COQ4):c.60G>C (p.Arg20=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2102589	NM_016035.5(COQ4):c.64G>A (p.Ala22Thr)	COQ4 (A22T)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 476186	NM_016035.5(COQ4):c.67dup (p.Ala23fs)	COQ4 (A23fs)	Duplication (frameshift variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GPathogenic
Select item 2101637	NM_016035.5(COQ4):c.70+1G>A	COQ4	Single nucleotide variant (splice donor variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely pathogenic
Select item 476189	NM_016035.5(COQ4):c.70+2C>G	COQ4	Single nucleotide variant (splice donor variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely pathogenic
Select item 2047063	NM_016035.5(COQ4):c.70+6T>A	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2919132	NM_016035.5(COQ4):c.70+7G>C	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2699301	NM_016035.5(COQ4):c.70+7G>A	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2981720	NM_016035.5(COQ4):c.70+10G>A	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 542776	NM_016035.5(COQ4):c.70+10G>C	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2062305	NM_016035.5(COQ4):c.70+11C>T	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2848370	NM_016035.5(COQ4):c.70+15G>A	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 1939661	NM_016035.5(COQ4):c.70+18C>T	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2724591	NM_016035.5(COQ4):c.71-19C>T	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 790425	NM_016035.5(COQ4):c.71-5C>G	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GConflicting classifications of pathogenicity
Select item 507730	NM_016035.5(COQ4):c.71-5C>T	COQ4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1367125	NM_016035.5(COQ4):c.71-3C>T	COQ4	Single nucleotide variant (intron variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1139504	NM_016035.5(COQ4):c.81C>A (p.Leu27=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 786827	NM_016035.5(COQ4):c.81C>G (p.Leu27=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 3076321	NM_016035.5(COQ4):c.83G>A (p.Arg28Gln)	COQ4 (R28Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1056843	NM_016035.5(COQ4):c.85G>C (p.Ala29Pro)	COQ4 (A29P)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2686023	NM_016035.5(COQ4):c.87dup (p.Arg30Ter)	COQ4 (R30*)	Duplication (nonsense)	Spastic ataxia 10, autosomal recessive	GPathogenic
Select item 2012191	NM_016035.5(COQ4):c.91A>T (p.Ser31Cys)	COQ4 (S31C)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2110388	NM_016035.5(COQ4):c.92G>A (p.Ser31Asn)	COQ4 (S31N)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2057745	NM_016035.5(COQ4):c.94G>T (p.Asp32Tyr)	COQ4 (D32Y)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1716310	NM_016035.5(COQ4):c.94G>C (p.Asp32His)	COQ4 (D32H)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 708214	NM_016035.5(COQ4):c.96C>A (p.Asp32Glu)	COQ4 (D32E)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GBenign
Select item 1920980	NM_016035.5(COQ4):c.100G>A (p.Ala34Thr)	COQ4 (A34T)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 641543	NM_016035.5(COQ4):c.103G>C (p.Gly35Arg)	COQ4 (G35R)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +2 more	GUncertain significance
Select item 580739	NM_016035.5(COQ4):c.103G>A (p.Gly35Ser)	COQ4 (G35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2092696	NM_016035.5(COQ4):c.105C>A (p.Gly35=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 1922649	NM_016035.5(COQ4):c.107C>T (p.Pro36Leu)	COQ4 (P36L)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GConflicting classifications of pathogenicity
Select item 653582	NM_016035.5(COQ4):c.115T>G (p.Ser39Ala)	COQ4 (S39A)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 3016143	NM_016035.5(COQ4):c.117G>C (p.Ser39=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 1686776	NM_016035.5(COQ4):c.130_137dup (p.Leu47fs)	COQ4 (L47fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3017586	NM_016035.5(COQ4):c.130_137del (p.Thr44fs)	COQ4, LOC130002704 (T44fs)	Microsatellite (frameshift variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GPathogenic
Select item 2179247	NM_016035.5(COQ4):c.120C>T (p.His40=)	COQ4	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 792420	NM_016035.5(COQ4):c.126C>T (p.Leu42=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2048795	NM_016035.5(COQ4):c.132C>G (p.Thr44=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 2139543	NM_016035.5(COQ4):c.134C>G (p.Ser45Cys)	COQ4, LOC130002704 (S45C)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 651003	NM_016035.5(COQ4):c.134C>T (p.Ser45Phe)	COQ4, LOC130002704 (S45F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354567	NM_016035.5(COQ4):c.137C>G (p.Pro46Arg)	COQ4, LOC130002704 (P46R)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2894348	NM_016035.5(COQ4):c.142C>T (p.Gln48Ter)	COQ4, LOC130002704 (Q48*)	Single nucleotide variant (nonsense)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GPathogenic
Select item 572296	NM_016035.5(COQ4):c.144G>T (p.Gln48His)	COQ4, LOC130002704 (Q48H)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1167959	NM_016035.5(COQ4):c.149G>C (p.Gly50Ala)	COQ4, LOC130002704 (G50A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 382416	NM_016035.5(COQ4):c.149= (p.Gly50=)	COQ4, LOC130002704	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign/Likely benign
Select item 730772	NM_016035.5(COQ4):c.151C>T (p.Leu51=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711454	NM_016035.5(COQ4):c.153G>A (p.Leu51=)	COQ4, LOC130002704	Single nucleotide variant (synonymous variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GLikely benign
Select item 189202	NM_016035.5(COQ4):c.155T>C (p.Leu52Ser)	COQ4, LOC130002704 (L52S)	Single nucleotide variant (missense variant)	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GPathogenic
Select item 389184	NM_016035.5(COQ4):c.168C>T (p.Ser56=)	LOC130002704, COQ4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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