C4015349[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198144	NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys)	IGHMBP2 (R270C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 569720	NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys)	IGHMBP2 (E340K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 245627	NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2 (L361P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GPathogenic
Select item 500874	NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr)	IGHMBP2 (F369Y)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GUncertain significance
Select item 573815	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2 (W386R)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 386157	NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)	IGHMBP2 (A432T)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign/Likely benign
Select item 245837	NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)	IGHMBP2 (A432V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 386158	NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +5 more	GBenign/Likely benign