3,9-Dihydroeucomin - ClinVar - NCBI

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The following term was not found in ClinVar: Dihydroeucomin.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 more	Copy number gain	See cases	GPathogenic
Select item 145395	GRCh38/hg38 1p36.33(chr1:844353-911241)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 147022	GRCh38/hg38 1p36.33(chr1:859245-911327)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 57488	GRCh38/hg38 1p36.33(chr1:911300-1084417)x3	LINC02593, LOC100288175 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3115499	NM_198317.3(KLHL17):c.1364G>A (p.Arg455His)	KLHL17 (R455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296705	NM_198317.3(KLHL17):c.1369G>A (p.Asp457Asn)	KLHL17 (D457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115500	NM_198317.3(KLHL17):c.1381G>A (p.Gly461Arg)	KLHL17 (G461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461635	NM_198317.3(KLHL17):c.1399G>A (p.Ala467Thr)	KLHL17 (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115501	NM_198317.3(KLHL17):c.1433T>C (p.Val478Ala)	KLHL17 (V478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215186	NM_032129.3(PLEKHN1):c.806G>A (p.Arg269His)	PLEKHN1 (R321H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470732	NM_032129.3(PLEKHN1):c.829G>A (p.Glu277Lys)	PLEKHN1 (E329K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375611	NM_004195.3(TNFRSF18):c.26C>T (p.Ala9Val)	TNFRSF18 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392791	NM_030649.3(ACAP3):c.737G>A (p.Arg246Gln)	ACAP3 (R246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261196	NM_030649.3(ACAP3):c.736C>T (p.Arg246Trp)	ACAP3 (R246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302418	NM_030649.3(ACAP3):c.674T>G (p.Leu225Arg)	ACAP3 (L225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 1012228	NM_022834.5(VWA1):c.905G>A (p.Arg302Gln)	VWA1 (R302Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3130731	NM_001039211.3(ATAD3C):c.790C>T (p.Arg264Cys)	ATAD3C (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597706	NM_001039211.3(ATAD3C):c.794C>T (p.Thr265Met)	ATAD3C (T265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154682	GRCh38/hg38 1p36.33-36.32(chr1:1515661-2349832)x3	ATAD3A, CALML6 +84 more	Copy number gain	See cases	GUncertain significance
Select item 452865	NM_001170535.3(ATAD3A):c.251C>T (p.Thr84Met)	ATAD3A (T84M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705846	NM_001170535.3(ATAD3A):c.868C>T (p.Arg290Cys)	ATAD3A (R211C +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 2499671	NM_001170535.3(ATAD3A):c.1373A>C (p.Gln458Pro)	ATAD3A (Q379P +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1705978	NM_001170535.3(ATAD3A):c.1651G>T (p.Glu551Ter)	ATAD3A (E472* +2 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1810561	NM_001170535.3(ATAD3A):c.1689del (p.Gln563fs)	ATAD3A (Q611fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 37263	NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del)	SKI	Deletion (inframe_deletion)	Shprintzen-Goldberg syndrome	GPathogenic
Select item 213674	NM_003036.4(SKI):c.1527C>T (p.Ser509=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 626168	NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)	SKI (A579T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3295598	NM_024848.3(MORN1):c.866C>T (p.Pro289Leu)	MORN1 (P289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398161	NM_024848.3(MORN1):c.803C>T (p.Ala268Val)	MORN1 (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58040	GRCh38/hg38 1p36.32(chr1:2659405-3273322)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GPathogenic
Select item 146771	GRCh38/hg38 1p36.32(chr1:2701912-3244554)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GLikely benign
Select item 144153	GRCh38/hg38 1p36.32(chr1:2701929-3244518)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146248	GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3	ACTRT2, ARHGEF16 +29 more	Copy number gain	See cases	GLikely benign
Select item 504756	NM_022114.4(PRDM16):c.252C>T (p.Phe84=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GLikely benign
Select item 227039	NM_022114.4(PRDM16):c.387+6C>T	PRDM16	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 474402	NM_022114.4(PRDM16):c.1188T>C (p.Cys396=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 227023	NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 227860	NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser)	PRDM16 (G455S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227024	NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser)	PRDM16 (P476S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 504755	NM_022114.4(PRDM16):c.1517C>T (p.Thr506Met)	PRDM16 (T506M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 227025	NM_022114.4(PRDM16):c.1518G>A (p.Thr506=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 241421	NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser)	PRDM16 (G513S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 229158	NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln)	PRDM16 (R525Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 227861	NM_022114.4(PRDM16):c.1578G>A (p.Pro526=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 227026	NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro)	PRDM16 (S533P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 227862	NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)	PRDM16 (V562I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 426420	NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met)	PRDM16 (T569M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 474410	NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met)	PRDM16 (T570M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 430198	NM_022114.4(PRDM16):c.1726G>A (p.Glu576Lys)	PRDM16 (E576K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 474412	NM_022114.4(PRDM16):c.1745G>A (p.Arg582His)	PRDM16 (R582H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 509257	NM_022114.4(PRDM16):c.1839C>T (p.Thr613=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GLikely benign
Select item 229159	NM_022114.4(PRDM16):c.1877A>T (p.Asp626Val)	PRDM16 (D626V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227027	NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)	PRDM16 (P633L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 227863	NM_022114.4(PRDM16):c.1977G>A (p.Pro659=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 667157	NM_022114.4(PRDM16):c.1983C>T (p.Ser661=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 229160	NM_022114.4(PRDM16):c.2060G>C (p.Gly687Ala)	PRDM16 (G687A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 229161	NM_022114.4(PRDM16):c.2089G>T (p.Ala697Ser)	PRDM16 (A697S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 227028	NM_022114.4(PRDM16):c.2091A>T (p.Ala697=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 517461	NM_022114.4(PRDM16):c.2106G>A (p.Lys702=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 517157	NM_022114.4(PRDM16):c.2154G>A (p.Ser718=)	PRDM16	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 229162	NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)	PRDM16 (V764M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 474419	NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)	PRDM16 (G766S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 229163	NM_022114.4(PRDM16):c.2434C>T (p.Arg812Cys)	PRDM16 (R812C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 60726	NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)	PRDM16 (N816S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 388234	NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 241425	NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)	PRDM16 (G817S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 241426	NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)	PRDM16 (G818S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 227865	NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)	PRDM16 (R823P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 227029	NM_022114.4(PRDM16):c.2502C>T (p.Gly834=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 227030	NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)	PRDM16 (G836S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 229164	NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu)	PRDM16 (S859L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 227031	NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 373755	NM_022114.4(PRDM16):c.2780A>C (p.His927Pro)	PRDM16 (H927P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 148732	GRCh38/hg38 1p36.32(chr1:3695587-4084682)x3	C1orf174, CCDC27 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2623688	NM_152492.3(CCDC27):c.1487A>T (p.Glu496Val)	CCDC27 (E496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514612	NM_152492.3(CCDC27):c.1526G>A (p.Arg509Gln)	CCDC27 (R509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58041	GRCh38/hg38 1p36.32-36.31(chr1:4799319-6129675)x3	CHD5, KCNAB2 +27 more	Copy number gain	See cases	GPathogenic
Select item 3399	NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter)	NPHP4 (E790* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 4	GPathogenic
Select item 499066	NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)	NPHP4 (P677S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 953213	NM_015102.5(NPHP4):c.1264G>C (p.Val422Leu)	NPHP4 (V422L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 593141	NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr)	NPHP4 (I413T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GUncertain significance
Select item 1046156	NM_015102.5(NPHP4):c.1230G>T (p.Gln410His)	NPHP4 (Q410H)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1425961	NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys)	NPHP4 (R390C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 297824	NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala)	NPHP4 (V389A)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 288535	NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu)	NPHP4 (S376L)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 4 +5 more	GUncertain significance
Select item 1358608	NM_015102.5(NPHP4):c.1120-7A>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 1061196	NM_015102.5(NPHP4):c.1119+6A>C	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis	GUncertain significance
Select item 929940	NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs)	NPHP4 (M348fs)	Duplication (5 prime UTR variant +2 more)	Nephronophthisis	GLikely pathogenic
Select item 995787	NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met)	CHD5 (I1419M)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 1701636	NM_015557.3(CHD5):c.3779C>T (p.Ala1260Val)	CHD5 (A1260V)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance

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