"PreventionGenetics, part of Exact Sciences"[submitter] AND "IGHMBP2"[ - ClinVar

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Items: 51

	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 258578	NM_002180.3(IGHMBP2):c.87-19A>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 258557	NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)	IGHMBP2 (Q51E)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +5 more	GBenign/Likely benign
Select item 258562	NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign/Likely benign
Select item 258568	NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)	IGHMBP2 (A75T)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign/Likely benign
Select item 137568	NM_002180.3(IGHMBP2):c.256+9G>A	IGHMBP2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 377972	NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 466594	NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)	IGHMBP2 (A102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 287979	NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)	IGHMBP2 (T115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 386961	NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe)	IGHMBP2 (S121F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2635455	NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)	IGHMBP2 (L137fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 235360	NM_002180.3(IGHMBP2):c.548-10T>G	IGHMBP2	Single nucleotide variant (intron variant)	not provided +4 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 305837	NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 198145	NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
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 515489	NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 2635229	NM_002180.3(IGHMBP2):c.1064C>A (p.Ala355Glu)	IGHMBP2 (A355E)	Single nucleotide variant (missense variant)	IGHMBP2-related disorder	GUncertain significance
Select item 466572	NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)	IGHMBP2 (A355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1135991	NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=)	IGHMBP2	Single nucleotide variant (synonymous variant)	IGHMBP2-related disorder +2 more	GLikely benign
Select item 198778	NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 234315	NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)	IGHMBP2 (A398V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3038533	NM_002180.3(IGHMBP2):c.1235+34C>T	IGHMBP2	Single nucleotide variant (intron variant)	IGHMBP2-related disorder	GLikely benign
Select item 1211027	NM_002180.3(IGHMBP2):c.1235+38C>T	IGHMBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258556	NM_002180.3(IGHMBP2):c.1418+18A>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 1666074	NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=)	IGHMBP2	Single nucleotide variant (synonymous variant)	IGHMBP2-related disorder +2 more	GLikely benign
Select item 258558	NM_002180.3(IGHMBP2):c.1538-20C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 258559	NM_002180.3(IGHMBP2):c.1538-8C>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GBenign
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 509916	NM_002180.3(IGHMBP2):c.1632+4C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	IGHMBP2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 258561	NM_002180.3(IGHMBP2):c.1757-18C>A	IGHMBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258563	NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 258564	NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +5 more	GBenign/Likely benign
Select item 258565	NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)	IGHMBP2 (V647I)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 2923711	NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GLikely benign
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 381068	NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
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 258569	NM_002180.3(IGHMBP2):c.2259C>T (p.His753=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 258570	NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 194204	NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 258571	NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 258572	NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)	IGHMBP2 (A849T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
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 194370	NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
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 1125548	NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=)	IGHMBP2	Single nucleotide variant (synonymous variant)	IGHMBP2-related disorder +2 more	GLikely benign
Select item 258574	NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +5 more	GBenign
Select item 381069	NM_002180.3(IGHMBP2):c.*3G>A	IGHMBP2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 258554	NM_002180.3(IGHMBP2):c.*22C>T	IGHMBP2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign

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Items: 51