Related gene-specific medical variations for Gene (Select 63976) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062115	NM_022114.4(PRDM16):c.2134C>T (p.Gln712Ter)	PRDM16 (Q712*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 8	GLikely pathogenic
Select item 2584554	NM_022114.4(PRDM16):c.2940-845G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2435236	NM_022114.4(PRDM16):c.2907C>T (p.His969=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2435235	NM_022114.4(PRDM16):c.3619G>A (p.Glu1207Lys)	PRDM16 (E1207K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 1943324	NM_022114.4(PRDM16):c.37+23_37+55del	PRDM16, LOC124903827	Deletion (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 1426495	NM_022114.4(PRDM16):c.5G>A (p.Arg2Gln)	PRDM16, LOC124903827 (R2Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 1193752	NM_022114.4(PRDM16):c.37+256dup	LOC124903827, PRDM16	Duplication (intron variant)	not provided	GLikely benign
Select item 1110471	NM_022114.4(PRDM16):c.30A>G (p.Leu10=)	LOC124903827, PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 1087348	NM_022114.4(PRDM16):c.28C>T (p.Leu10=)	LOC124903827, PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 931299	NM_022114.4(PRDM16):c.565A>G (p.Ser189Gly)	PRDM16 (S189G)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 688706	GRCh37/hg19 1p36.32(chr1:3318964-3337395)x1	PRDM16	Copy number loss	not provided	GUncertain significance
Select item 674706	NM_022114.4(PRDM16):c.37+25C>G	LOC124903827, PRDM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 649061	NC_000001.10:g.(?_2985804)_(2985880_?)dup	LOC124903827, PRDM16	Duplication	Left ventricular noncompaction 8	GUncertain significance
Select item 636819	NM_022114.4(PRDM16):c.3733C>G (p.Pro1245Ala)	PRDM16 (P1245A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 636727	NM_022114.4(PRDM16):c.574-10T>G	PRDM16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 599308	NM_022114.4(PRDM16):c.439-11715_439-4716del	PRDM16	Deletion (intron variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 509097	NM_022114.4(PRDM16):c.-17T>C	LOC124903827, PRDM16	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390136	NM_022114.4(PRDM16):c.21G>A (p.Ala7=)	PRDM16, LOC124903827	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 377306	NM_022114.4(PRDM16):c.827del (p.Gly276fs)	PRDM16 (G276fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 228319	NM_022114.4(PRDM16):c.-14C>A	LOC124903827, PRDM16	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign

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Items: 20