ClinVar for Gene (Select 55349) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266934	NM_018397.5(CHDH):c.574G>A (p.Gly192Ser)	CHDH (G192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266933	NM_018397.5(CHDH):c.29G>A (p.Arg10Gln)	CHDH (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266931	NM_018397.5(CHDH):c.749G>A (p.Ser250Asn)	CHDH (S250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266930	NM_018397.5(CHDH):c.1234C>T (p.Arg412Trp)	CHDH (R412W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266929	NM_018397.5(CHDH):c.1595C>A (p.Thr532Lys)	CHDH (T532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266928	NM_018397.5(CHDH):c.610G>A (p.Glu204Lys)	CHDH (E204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266927	NM_018397.5(CHDH):c.1162C>T (p.Arg388Cys)	CHDH (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266926	NM_018397.5(CHDH):c.1283G>A (p.Arg428Gln)	CHDH (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144283	NM_018397.5(CHDH):c.82C>T (p.Arg28Trp)	CHDH (R28W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144282	NM_018397.5(CHDH):c.557C>T (p.Pro186Leu)	CHDH (P186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144281	NM_018397.5(CHDH):c.529G>A (p.Ala177Thr)	CHDH (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144280	NM_018397.5(CHDH):c.356T>A (p.Val119Glu)	CHDH (V119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144279	NM_018397.5(CHDH):c.193G>A (p.Glu65Lys)	CHDH (E65K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144278	NM_018397.5(CHDH):c.1711A>T (p.Ile571Phe)	CHDH (I571F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144277	NM_018397.5(CHDH):c.1672G>A (p.Ala558Thr)	CHDH (A558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144276	NM_018397.5(CHDH):c.1667T>C (p.Leu556Pro)	CHDH (L556P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144275	NM_018397.5(CHDH):c.1502T>C (p.Phe501Ser)	CHDH (F501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144274	NM_018397.5(CHDH):c.1451A>G (p.Lys484Arg)	CHDH (K484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144273	NM_018397.5(CHDH):c.1237G>A (p.Val413Ile)	CHDH (V413I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144272	NM_018397.5(CHDH):c.1125G>C (p.Glu375Asp)	CHDH (E375D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144271	NM_018397.5(CHDH):c.1117A>G (p.Thr373Ala)	CHDH (T373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144270	NM_018397.5(CHDH):c.110G>C (p.Ser37Thr)	CHDH (S37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062734	GRCh37/hg19 3p21.1(chr3:53532755-54395791)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062724	GRCh37/hg19 3p21.1-14.3(chr3:53659716-54500525)x3	ACTR8, CACNA1D +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2597976	NM_018397.5(CHDH):c.124A>G (p.Ser42Gly)	CHDH (S42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548846	NM_018397.5(CHDH):c.92C>T (p.Ala31Val)	CHDH (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546871	NM_018397.5(CHDH):c.508G>A (p.Ala170Thr)	CHDH (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526080	NM_018397.5(CHDH):c.590C>T (p.Pro197Leu)	CHDH (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513454	NM_018397.5(CHDH):c.820G>A (p.Gly274Ser)	CHDH (G274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511739	NM_018397.5(CHDH):c.709C>T (p.Arg237Trp)	CHDH (R237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486199	NM_018397.5(CHDH):c.718G>A (p.Ala240Thr)	CHDH (A240T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2475610	NM_018397.5(CHDH):c.199G>T (p.Val67Leu)	CHDH (V67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470218	NM_018397.5(CHDH):c.197G>C (p.Arg66Pro)	CHDH (R66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456202	NM_018397.5(CHDH):c.1567G>A (p.Asp523Asn)	CHDH (D523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391246	NM_018397.5(CHDH):c.298G>A (p.Asp100Asn)	CHDH (D100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381973	NM_018397.5(CHDH):c.1388G>A (p.Arg463His)	CHDH (R463H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374636	NM_018397.5(CHDH):c.1364C>A (p.Thr455Lys)	CHDH (T455K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371782	NM_018397.5(CHDH):c.848G>C (p.Ser283Thr)	CHDH (S283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356888	NM_018397.5(CHDH):c.1078C>T (p.Arg360Trp)	CHDH (R360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330084	NM_018397.5(CHDH):c.988G>A (p.Val330Ile)	CHDH (V330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299846	NM_018397.5(CHDH):c.1516G>A (p.Ala506Thr)	CHDH (A506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270766	NM_018397.5(CHDH):c.418G>T (p.Val140Phe)	CHDH (V140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256552	NM_018397.5(CHDH):c.1187C>T (p.Pro396Leu)	CHDH (P396L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2237375	NM_018397.5(CHDH):c.1043G>A (p.Arg348His)	CHDH (R348H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225025	NM_018397.5(CHDH):c.635C>T (p.Pro212Leu)	CHDH (P212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214342	NM_018397.5(CHDH):c.1491G>C (p.Glu497Asp)	CHDH (E497D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204929	NM_018397.5(CHDH):c.895A>G (p.Ile299Val)	CHDH (I299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204896	NM_018397.5(CHDH):c.1079G>A (p.Arg360Gln)	CHDH (R360Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785054	NM_018397.5(CHDH):c.704-3C>T	CHDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777801	NM_018397.5(CHDH):c.1536C>G (p.Pro512=)	CHDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767915	NM_018397.5(CHDH):c.705C>T (p.Gly235=)	CHDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720569	NM_018397.5(CHDH):c.135G>A (p.Val45=)	CHDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719637	NM_018397.5(CHDH):c.255G>T (p.Ser85=)	CHDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686776	GRCh37/hg19 3p21.1(chr3:53413246-53955646)x3	ACTR8, CACNA1D +3 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253829	GRCh37/hg19 3p21.1(chr3:53831630-53857351)x3	CHDH, CACNA1D	Copy number gain	See cases	GUncertain significance
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 63