"OMIM"[submitter] AND "POMT2"[gene] - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3230	NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser)	POMT2 (W748S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GPathogenic
Select item 3224	NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)	POMT2 (W748R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 +2 more	GLikely pathogenic
Select item 3222	NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu)	POMT2 (G726E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +1 more	GPathogenic
Select item 3221	NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	POMT2	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +6 more	GPathogenic/Likely pathogenic
Select item 3223	NM_013382.7(POMT2):c.1941G>A (p.Trp647Ter)	POMT2 (W647*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	GPathogenic
Select item 3218	NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	POMT2 (R638*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 3236	NM_013382.7(POMT2):c.1445G>T (p.Gly482Val)	POMT2 (G482V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 +2 more	GUncertain significance
Select item 3235	NM_013382.7(POMT2):c.1333-14G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 +2 more	GPathogenic/Likely pathogenic
Select item 3220	NM_013382.7(POMT2):c.1261del (p.Arg421fs)	POMT2 (R421fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GPathogenic
Select item 3225	NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)	POMT2	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GConflicting classifications of pathogenicity
Select item 3226	NM_013382.7(POMT2):c.1117G>T (p.Val373Phe)	POMT2 (V373F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GPathogenic
Select item 3231	NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	POMT2 (G353S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 3219	NM_013382.7(POMT2):c.1006+1G>A	POMT2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 3228	NM_013382.7(POMT2):c.737G>A (p.Gly246Asp)	POMT2 (G246D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	GPathogenic
Select item 3227	NM_013382.7(POMT2):c.593T>A (p.Ile198Asn)	POMT2 (I198N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 +3 more	GUncertain significance
Select item 3229	NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	POMT2	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 3234	NM_013382.7(POMT2):c.248+5G>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 +2 more	GLikely pathogenic