"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PRDM16"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 963075	NM_022114.4(PRDM16):c.264G>T (p.Glu88Asp)	PRDM16 (E88D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 569721	NM_022114.4(PRDM16):c.340G>A (p.Val114Met)	PRDM16 (V114M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 1407377	NM_022114.4(PRDM16):c.445G>A (p.Glu149Lys)	PRDM16 (E149K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GConflicting classifications of pathogenicity
Select item 1423582	NM_022114.4(PRDM16):c.823G>A (p.Gly275Ser)	PRDM16 (G275S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 840605	NM_022114.4(PRDM16):c.832G>A (p.Gly278Ser)	PRDM16 (G278S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 60728	NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)	PRDM16 (P291L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 227858	NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 413858	NM_022114.4(PRDM16):c.1599G>A (p.Ser533=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 1194008	NM_022114.4(PRDM16):c.1633G>A (p.Ala545Thr)	PRDM16 (A545T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
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 1000013	NM_022114.4(PRDM16):c.1738G>A (p.Glu580Lys)	PRDM16 (E580K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
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 1630950	NM_022114.4(PRDM16):c.1884C>T (p.Asp628=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 650047	NM_022114.4(PRDM16):c.1958T>C (p.Leu653Ser)	PRDM16 (L653S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 426184	NM_022114.4(PRDM16):c.2126T>C (p.Met709Thr)	PRDM16 (M709T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 1514311	NM_022114.4(PRDM16):c.2458C>T (p.Arg820Trp)	PRDM16 (R820W)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 406245	NM_022114.4(PRDM16):c.2467C>T (p.Arg823Cys)	PRDM16 (R823C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 541394	NM_022114.4(PRDM16):c.2603+6C>T	PRDM16	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 487607	NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)	PRDM16 (P889L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GUncertain significance
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 1060488	NM_022114.4(PRDM16):c.2702T>C (p.Ile901Thr)	PRDM16 (I901T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 241428	NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 541383	NM_022114.4(PRDM16):c.3281A>G (p.Lys1094Arg)	PRDM16 (K1094R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 565392	NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp)	PRDM16 (E1119D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 658759	NM_022114.4(PRDM16):c.3592C>A (p.Leu1198Ile)	PRDM16 (L1198I)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 474434	NM_022114.4(PRDM16):c.3595C>T (p.Arg1199Cys)	PRDM16 (R1199C)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance

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Items: 27