"GeneDx"[submitter] AND "LOC126806878"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 1203786	NM_024665.7(TBL1XR1):c.1122+98T>A	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489289	NM_024665.7(TBL1XR1):c.1122+3A>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 432185	NM_024665.7(TBL1XR1):c.1109A>G (p.Asp370Gly)	LOC126806878, TBL1XR1 +1 more (D370G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1723667	NM_024665.7(TBL1XR1):c.1108G>C (p.Asp370His)	LOC126806878, TBL1XR1 +1 more (D283H +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372701	NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)	LOC126806878, TBL1XR1 +1 more (D370N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1313399	NM_024665.7(TBL1XR1):c.1048-7T>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 861216	NM_024665.7(TBL1XR1):c.1047G>A (p.Thr349=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1311325	NM_024665.7(TBL1XR1):c.1035C>A (p.Phe345Leu)	LOC126806878, TBL1XR1 +1 more (F258L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392060	NM_024665.7(TBL1XR1):c.987G>A (p.Met329Ile)	LOC126806878, TBL1XR1 +1 more (M329I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3342808	NM_024665.7(TBL1XR1):c.985A>G (p.Met329Val)	LOC126806878, TBL1XR1 +1 more (M242V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 545441	NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)	LOC126806878, TBL1XR1 +1 more (C325Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41 +1 more	GConflicting classifications of pathogenicity
Select item 3340353	NM_024665.7(TBL1XR1):c.953G>A (p.Ser318Asn)	LOC126806878, TBL1XR1 +1 more (S231N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1219740	NM_024665.7(TBL1XR1):c.948G>T (p.Trp316Cys)	LOC126806878, TBL1XR1 +1 more (W229C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426833	NM_024665.7(TBL1XR1):c.947G>C (p.Trp316Ser)	LOC126806878, TBL1XR1 +1 more (W316S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452527	NM_024665.7(TBL1XR1):c.943_945del (p.Asp315del)	LOC126806878, TBL1XR1 +1 more (D315del +1 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 452352	NM_024665.7(TBL1XR1):c.941_943del (p.Val314del)	LOC126806878, TBL1XR1 +1 more (V314del +1 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 546174	NM_024665.7(TBL1XR1):c.926C>T (p.Ala309Val)	LOC126806878, TBL1XR1 +1 more (A309V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 448647	NM_024665.7(TBL1XR1):c.926-8C>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GBenign
Select item 1200708	NM_024665.7(TBL1XR1):c.926-12G>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GLikely benign

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Items: 22