14083[HGNC] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2648265	NM_001395058.1(MYO15B):c.1323T>G (p.Gly441=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648266	NM_001395058.1(MYO15B):c.1491A>G (p.Leu497=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648267	NM_001395058.1(MYO15B):c.2190G>A (p.Leu730=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648268	NM_001395058.1(MYO15B):c.2622C>T (p.Phe874=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2674600	NM_001395058.1(MYO15B):c.2651+2T>A	MYO15B	Single nucleotide variant (splice donor variant)	Congenital myopathy	GUncertain significance
Select item 2648269	NM_001395058.1(MYO15B):c.2943G>A (p.Val981=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648270	NM_001395058.1(MYO15B):c.3369C>T (p.Ser1123=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648271	NM_001395058.1(MYO15B):c.4440A>G (p.Pro1480=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648272	NM_001395058.1(MYO15B):c.5985G>A (p.Pro1995=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2674603	NM_001395058.1(MYO15B):c.8109T>G (p.Asp2703Glu)	MYO15B (D2665E +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy	GUncertain significance
Select item 2687867	NM_001395058.1(MYO15B):c.8156+19C>G	MYO15B	Single nucleotide variant (intron variant)	Hereditary cancer	GBenign
Select item 2648273	NM_001395058.1(MYO15B):c.8406G>A (p.Pro2802=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648274	NM_001395058.1(MYO15B):c.9030G>A (p.Gly3010=)	MYO15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign