Related gene-specific medical variations for Gene (Select 126862763) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2992525	NM_001144967.3(NEDD4L):c.343C>T (p.Leu115Phe)	LOC126862763, NEDD4L (L107F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2914098	NM_001144967.3(NEDD4L):c.298-17T>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901938	NM_001144967.3(NEDD4L):c.348+6G>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2812888	NM_001144967.3(NEDD4L):c.298-11C>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804752	NM_001144967.3(NEDD4L):c.298-5A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926151	NM_001144967.3(NEDD4L):c.342C>T (p.His114=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1553175	NM_001144967.3(NEDD4L):c.348+18T>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1413193	NM_001144967.3(NEDD4L):c.348G>A (p.Pro116=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1368347	NM_001144967.3(NEDD4L):c.347C>T (p.Pro116Leu)	LOC126862763, NEDD4L (P108L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1359734	NM_001144967.3(NEDD4L):c.328G>A (p.Val110Met)	LOC126862763, NEDD4L (V102M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1304106	NM_001144967.3(NEDD4L):c.338G>T (p.Ser113Ile)	LOC126862763, NEDD4L (S105I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1254207	NM_001144967.3(NEDD4L):c.348+100A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235847	NM_001144967.3(NEDD4L):c.348+66T>C	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200070	NM_001144967.3(NEDD4L):c.348+267C>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1113735	NM_001144967.3(NEDD4L):c.348+9A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 1108040	NM_001144967.3(NEDD4L):c.306C>T (p.Asp102=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1059466	NM_001144967.3(NEDD4L):c.327C>A (p.Asp109Glu)	LOC126862763, NEDD4L (D101E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1023433	NM_001144967.3(NEDD4L):c.337A>T (p.Ser113Cys)	LOC126862763, NEDD4L (S105C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1007296	NM_001144967.3(NEDD4L):c.298-4A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 944551	NM_001144967.3(NEDD4L):c.328G>C (p.Val110Leu)	LOC126862763, NEDD4L (V102L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 697773	NM_001144967.3(NEDD4L):c.327C>T (p.Asp109=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 697172	NM_001144967.3(NEDD4L):c.348+10G>T	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 652682	NM_001144967.3(NEDD4L):c.318C>T (p.Gly106=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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Items: 23