"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRDM16"[g - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1590141	NM_022114.4(PRDM16):c.132G>A (p.Ser44=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +1 more	GLikely benign
Select item 696403	NM_022114.4(PRDM16):c.141C>T (p.Pro47=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +1 more	GLikely benign
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 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 227040	NM_022114.4(PRDM16):c.429C>T (p.Cys143=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +3 more	GBenign/Likely benign
Select item 855214	NM_022114.4(PRDM16):c.490G>A (p.Gly164Arg)	PRDM16 (G164R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 698357	NM_022114.4(PRDM16):c.525G>A (p.Ala175=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +1 more	GLikely benign
Select item 1019653	NM_022114.4(PRDM16):c.535G>A (p.Asp179Asn)	PRDM16 (D179N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GUncertain significance
Select item 487582	NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn)	PRDM16 (D236N)	Single nucleotide variant (missense variant)	PRDM16-related condition +2 more	GLikely benign
Select item 510518	NM_022114.4(PRDM16):c.777G>A (p.Ala259=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +3 more	GLikely benign
Select item 227043	NM_022114.4(PRDM16):c.783C>T (p.Tyr261=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +3 more	GBenign
Select item 1314778	NM_022114.4(PRDM16):c.787G>A (p.Gly263Ser)	PRDM16 (G263S)	Single nucleotide variant (missense variant)	PRDM16-related condition +1 more	GUncertain significance
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 698738	NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)	PRDM16 (D312N)	Single nucleotide variant (missense variant)	PRDM16-related condition +2 more	GConflicting classifications of pathogenicity
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 227858	NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +3 more	GLikely benign
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 227860	NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser)	PRDM16 (G455S)	Single nucleotide variant (missense variant)	PRDM16-related condition +2 more	GConflicting classifications of pathogenicity
Select item 227024	NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser)	PRDM16 (P476S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1045438	NM_022114.4(PRDM16):c.1484C>T (p.Pro495Leu)	PRDM16 (P495L)	Single nucleotide variant (missense variant)	PRDM16-related condition +1 more	GUncertain significance
Select item 954728	NM_022114.4(PRDM16):c.1506G>A (p.Thr502=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 1572184	NM_022114.4(PRDM16):c.1509G>A (p.Ala503=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition +1 more	GLikely benign
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 700242	NM_022114.4(PRDM16):c.1625C>A (p.Thr542Asn)	PRDM16 (T542N)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +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 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 3057987	NM_022114.4(PRDM16):c.1725C>G (p.Pro575=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition	GLikely benign
Select item 390967	NM_022114.4(PRDM16):c.1797G>A (p.Ser599=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 229159	NM_022114.4(PRDM16):c.1877A>T (p.Asp626Val)	PRDM16 (D626V)	Single nucleotide variant (missense variant)	PRDM16-related condition +1 more	GUncertain significance
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 391055	NM_022114.4(PRDM16):c.2172G>A (p.Ala724=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	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 702930	NM_022114.4(PRDM16):c.2295C>T (p.Gly765=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +3 more	GLikely benign
Select item 2629562	NM_022114.4(PRDM16):c.2384C>T (p.Pro795Leu)	PRDM16 (P795L)	Single nucleotide variant (missense variant)	PRDM16-related condition	GUncertain significance
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 241425	NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)	PRDM16 (G817S)	Single nucleotide variant (missense variant)	PRDM16-related condition +3 more	GConflicting classifications of pathogenicity
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 227030	NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)	PRDM16 (G836S)	Single nucleotide variant (missense variant)	PRDM16-related condition +3 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 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 229165	NM_022114.4(PRDM16):c.2786C>A (p.Pro929His)	PRDM16 (P929H)	Single nucleotide variant (missense variant)	PRDM16-related condition +3 more	GConflicting classifications of pathogenicity
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 406243	NM_022114.4(PRDM16):c.2809C>G (p.Pro937Ala)	PRDM16 (P937A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 373801	NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val)	PRDM16 (L939V)	Single nucleotide variant (missense variant)	PRDM16-related condition +2 more	GBenign/Likely benign
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 541380	NM_022114.4(PRDM16):c.3199G>A (p.Glu1067Lys)	PRDM16 (E1067K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GConflicting classifications of pathogenicity
Select item 1093018	NM_022114.4(PRDM16):c.3453C>T (p.Ala1151=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 3048344	NM_022114.4(PRDM16):c.3480G>A (p.Glu1160=)	PRDM16	Single nucleotide variant (synonymous variant)	PRDM16-related condition	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

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Items: 51