"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SDK2"[gene - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2648178	NM_001144952.2(SDK2):c.6372C>A (p.Gly2124=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648179	NM_001144952.2(SDK2):c.5997C>T (p.Ser1999=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648180	NM_001144952.2(SDK2):c.5136C>T (p.Ser1712=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648181	NM_001144952.2(SDK2):c.4218G>A (p.Pro1406=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648182	NM_001144952.2(SDK2):c.2907C>T (p.Ala969=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648183	NM_001144952.2(SDK2):c.2448C>A (p.Ser816Arg)	SDK2 (S816R)	Single nucleotide variant (missense variant)	SDK2-related condition +1 more	GLikely benign
Select item 2648184	NM_001144952.2(SDK2):c.1833G>A (p.Thr611=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648185	NM_001144952.2(SDK2):c.1640G>T (p.Arg547Leu)	SDK2 (R547L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648186	NM_001144952.2(SDK2):c.1159G>A (p.Gly387Ser)	SDK2 (G387S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648187	NM_001144952.2(SDK2):c.648C>G (p.Thr216=)	SDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024793	NM_001144952.2(SDK2):c.226T>C (p.Tyr76His)	SDK2 (Y76H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic