"Clinical Genetics, Academic Medical Center"[submitter] AND "IGHMBP2"[ - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258555	NM_002180.3(IGHMBP2):c.-2C>T	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 258575	NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 162194	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 258557	NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)	IGHMBP2 (Q51E)	Single nucleotide variant (missense variant)	IGHMBP2-related disorder +5 more	GBenign/Likely benign
Select item 546411	NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His)	IGHMBP2 (R56H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 137568	NM_002180.3(IGHMBP2):c.256+9G>A	IGHMBP2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 637271	NM_002180.3(IGHMBP2):c.587A>G (p.Gln196Arg)	IGHMBP2 (Q196R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 258576	NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)	IGHMBP2 (L201S)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 258577	NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)	IGHMBP2 (I275V)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 522258	NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)	IGHMBP2 (Q302*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 234315	NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)	IGHMBP2 (A398V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +5 more	GConflicting classifications of pathogenicity
Select item 305844	NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GConflicting classifications of pathogenicity
Select item 234316	NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	IGHMBP2 (C496*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +5 more	GPathogenic/Likely pathogenic
Select item 258560	NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 258566	NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)	IGHMBP2 (T671A)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 258567	NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)	IGHMBP2 (R694W)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 258570	NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 637262	NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	IGHMBP2 (R788*)	Single nucleotide variant (nonsense)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 194368	NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)	IGHMBP2 (T879K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +4 more	GBenign
Select item 258573	NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)	IGHMBP2 (E928K)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 162195	NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	IGHMBP2 (R971fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 258574	NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign

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Items: 22