"Ambry Genetics"[submitter] AND "LOC126861245"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9112	NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)	IGHMBP2, LOC126861245 (E514K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic
Select item 193854	NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys)	IGHMBP2, LOC126861245 (R516C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 466578	NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GConflicting classifications of pathogenicity
Select item 1375876	NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe)	IGHMBP2, LOC126861245 (L520F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 466579	NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr)	IGHMBP2, LOC126861245 (H521Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1775513	NM_002180.3(IGHMBP2):c.1571C>G (p.Ala524Gly)	IGHMBP2, LOC126861245 (A524G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 497345	NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GBenign/Likely benign
Select item 162198	NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr)	IGHMBP2, LOC126861245 (A528T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 305847	NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 466581	NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 955122	NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)	IGHMBP2, LOC126861245 (R533H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432239	NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)	IGHMBP2, LOC126861245 (I535V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 509916	NM_002180.3(IGHMBP2):c.1632+4C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GConflicting classifications of pathogenicity