"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PEX11B"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872436	NM_003846.3(PEX11B):c.617C>T (p.Pro206Leu)	PEX11B (P192L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 286117	NM_003846.3(PEX11B):c.483A>G (p.Gly161=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1334987	NM_003846.3(PEX11B):c.219A>G (p.Arg73=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1334986	NM_003846.3(PEX11B):c.198T>C (p.Asp66=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1176202	NM_003846.3(PEX11B):c.104A>G (p.His35Arg)	PEX11B (H21R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 806206	NM_003846.3(PEX11B):c.8C>G (p.Ala3Gly)	PEX11B (A3G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757198	NM_003846.3(PEX11B):c.6C>T (p.Asp2=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672392	GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic