"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227038	NM_022114.4(PRDM16):c.38-15C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 474437	NM_022114.4(PRDM16):c.49G>A (p.Val17Ile)	PRDM16 (V17I)	Single nucleotide variant (missense variant)	PRDM16-related condition +2 more	GLikely benign
Select item 227857	NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)	PRDM16 (A34T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 968946	NM_022114.4(PRDM16):c.115G>A (p.Glu39Lys)	PRDM16 (E39K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 241420	NM_022114.4(PRDM16):c.142G>A (p.Val48Met)	PRDM16 (V48M)	Single nucleotide variant (missense variant)	PRDM16-related condition +4 more	GBenign/Likely benign
Select item 474414	NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu)	PRDM16 (S66L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 227864	NM_022114.4(PRDM16):c.201G>A (p.Pro67=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 968062	NM_022114.4(PRDM16):c.342G>A (p.Val114=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 227041	NM_022114.4(PRDM16):c.444C>T (p.Ser148=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 510034	NM_022114.4(PRDM16):c.573+17A>G	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 422807	NM_022114.4(PRDM16):c.574-20_574-17del	PRDM16	Microsatellite (intron variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 227042	NM_022114.4(PRDM16):c.627C>T (p.His209=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 1254435	NM_022114.4(PRDM16):c.677-16_677-11dup	PRDM16	Duplication (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 381208	NM_022114.4(PRDM16):c.677-16G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 541392	NM_022114.4(PRDM16):c.843C>T (p.His281=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 514875	NM_022114.4(PRDM16):c.884+7C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 413870	NM_022114.4(PRDM16):c.885-4G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GLikely benign
Select item 413861	NM_022114.4(PRDM16):c.1033-10G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 1284648	NM_022114.4(PRDM16):c.1040C>T (p.Thr347Met)	PRDM16 (T347M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 221025	NM_022114.4(PRDM16):c.1071C>T (p.Arg357=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +2 more	GBenign
Select item 1174942	NM_022114.4(PRDM16):c.1106C>A (p.Pro369His)	PRDM16 (P369H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227022	NM_022114.4(PRDM16):c.1113C>T (p.Cys371=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 474402	NM_022114.4(PRDM16):c.1188T>C (p.Cys396=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +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 1174722	NM_022114.4(PRDM16):c.1484C>A (p.Pro495Gln)	PRDM16 (P495Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227025	NM_022114.4(PRDM16):c.1518G>A (p.Thr506=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +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 227026	NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro)	PRDM16 (S533P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 241422	NM_022114.4(PRDM16):c.1632C>T (p.Asp544=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1122589	NM_022114.4(PRDM16):c.1665C>A (p.Ala555=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 474409	NM_022114.4(PRDM16):c.1668G>A (p.Leu556=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 227862	NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)	PRDM16 (V562I)	Single nucleotide variant (missense variant)	PRDM16-related condition +3 more	GBenign/Likely benign
Select item 241423	NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 227027	NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)	PRDM16 (P633L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 700431	NM_022114.4(PRDM16):c.1926C>T (p.Ser642=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 697762	NM_022114.4(PRDM16):c.2035G>A (p.Asp679Asn)	PRDM16 (D679N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GConflicting classifications of pathogenicity
Select item 227028	NM_022114.4(PRDM16):c.2091A>T (p.Ala697=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 241424	NM_022114.4(PRDM16):c.2130G>A (p.Gly710=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 413867	NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +3 more	GBenign/Likely benign
Select item 699250	NM_022114.4(PRDM16):c.2259C>T (p.Ala753=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 229162	NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)	PRDM16 (V764M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 413873	NM_022114.4(PRDM16):c.2379G>A (p.Ser793=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 390010	NM_022114.4(PRDM16):c.2406G>A (p.Pro802=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +3 more	GBenign/Likely benign
Select item 388234	NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 241426	NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)	PRDM16 (G818S)	Single nucleotide variant (missense variant)	PRDM16-related condition +3 more	GBenign/Likely benign
Select item 227865	NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)	PRDM16 (R823P)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign/Likely benign
Select item 227029	NM_022114.4(PRDM16):c.2502C>T (p.Gly834=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 650021	NM_022114.4(PRDM16):c.2503G>A (p.Ala835Thr)	PRDM16 (A835T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GConflicting classifications of pathogenicity
Select item 449703	NM_022114.4(PRDM16):c.2508C>T (p.Gly836=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 696872	NM_022114.4(PRDM16):c.2532G>A (p.Pro844=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 474421	NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu)	PRDM16 (M847L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 541394	NM_022114.4(PRDM16):c.2603+6C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GLikely benign
Select item 381194	NM_022114.4(PRDM16):c.2603+20C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 227866	NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)	PRDM16	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 227031	NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +2 more	GBenign
Select item 227032	NM_022114.4(PRDM16):c.2793C>T (p.Asn931=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 541389	NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys)	PRDM16 (T952K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 386315	NM_022114.4(PRDM16):c.2940-17G>A	PRDM16	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 241428	NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +2 more	GBenign/Likely benign
Select item 227033	NM_022114.4(PRDM16):c.3109+10G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 227869	NM_022114.4(PRDM16):c.3110-4G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 227034	NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)	PRDM16 (L1044F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 1284438	NM_022114.4(PRDM16):c.3163C>G (p.Pro1055Ala)	PRDM16 (P1055A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227035	NM_022114.4(PRDM16):c.3284+15G>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +1 more	GBenign
Select item 60727	NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)	PRDM16 (V1101M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 227036	NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 474429	NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg)	PRDM16 (G1136R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1297618	NM_022114.4(PRDM16):c.3492C>T (p.Ser1164=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 241431	NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)	PRDM16 (E1207D)	Single nucleotide variant (missense variant)	PRDM16-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1284318	NM_022114.4(PRDM16):c.3746C>G (p.Pro1249Arg)	PRDM16 (P1249R)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 8	GUncertain significance
Select item 1284772	NM_022114.4(PRDM16):c.3792G>A (p.Thr1264=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign

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Items: 71