"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CEP135"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434720	NM_025009.5(CEP135):c.142C>T (p.Arg48Trp)	CEP135 (R48W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3025713	NM_025009.5(CEP135):c.620A>G (p.Gln207Arg)	CEP135 (Q207R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695094	NM_025009.5(CEP135):c.859C>T (p.Leu287=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908652	NM_025009.5(CEP135):c.1091C>T (p.Thr364Ile)	CEP135 (T364I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654763	NM_025009.5(CEP135):c.1253G>A (p.Arg418Gln)	CEP135 (R418Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 210673	NM_025009.5(CEP135):c.1254A>G (p.Arg418=)	CEP135	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2654764	NM_025009.5(CEP135):c.1431T>C (p.Tyr477=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654765	NM_025009.5(CEP135):c.1680C>T (p.Pro560=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434721	NM_025009.5(CEP135):c.1920G>A (p.Ser640=)	CEP135	Single nucleotide variant (synonymous variant)	CEP135-related condition +2 more	GLikely benign
Select item 434722	NM_025009.5(CEP135):c.2065A>G (p.Ile689Val)	CEP135 (I689V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 128698	NM_025009.5(CEP135):c.2755A>C (p.Arg919=)	CEP135	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1176478	NM_025009.5(CEP135):c.2802+4A>G	CEP135	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1895611	NM_025009.5(CEP135):c.3315C>T (p.Tyr1105=)	CEP135	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic