"Baylor Genetics"[submitter] AND "POMT2"[gene] - ClinVar

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

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501676	NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)	POMT2 (Q733*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GConflicting classifications of pathogenicity
Select item 2504046	NM_013382.7(POMT2):c.2147+1del	POMT2	Deletion (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 972468	NM_013382.7(POMT2):c.1978G>T (p.Val660Phe)	POMT2 (V660F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GUncertain significance
Select item 1030284	NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)	POMT2 (R659Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GConflicting classifications of pathogenicity
Select item 658319	NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)	POMT2 (R659W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3218	NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	POMT2 (R638*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GPathogenic
Select item 2678035	NM_013382.7(POMT2):c.1786-2A>T	POMT2	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 2678027	NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)	POMT2 (N594S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 378419	NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)	POMT2 (R588*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GPathogenic
Select item 817839	NM_013382.7(POMT2):c.1712dup (p.Ile572fs)	POMT2 (I572fs)	Duplication (frameshift variant)	POMT2-related condition +5 more	GPathogenic/Likely pathogenic
Select item 2678026	NM_013382.7(POMT2):c.1704G>A (p.Trp568Ter)	POMT2 (W568*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 285471	NM_013382.7(POMT2):c.1658dup (p.Asn553fs)	POMT2 (N553fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GPathogenic/Likely pathogenic
Select item 850492	NM_013382.7(POMT2):c.1433A>G (p.His478Arg)	POMT2 (H478R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GConflicting classifications of pathogenicity
Select item 2678038	NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)	POMT2 (D449fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3235	NM_013382.7(POMT2):c.1333-14G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic/Likely pathogenic
Select item 538734	NM_013382.7(POMT2):c.1293dup (p.Met432fs)	POMT2 (M432fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic/Likely pathogenic
Select item 162597	NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	POMT2 (R421W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GConflicting classifications of pathogenicity
Select item 2678036	NM_013382.7(POMT2):c.1254-2A>G	POMT2	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely pathogenic
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 1073316	NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)	POMT2 (R413*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 2678025	NM_013382.7(POMT2):c.1184-1G>C	POMT2	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 2678032	NM_013382.7(POMT2):c.1183+1G>A	POMT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3231	NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	POMT2 (G353S)	Single nucleotide variant (missense variant)	POMT2-related condition +2 more	GLikely pathogenic
Select item 652452	NM_013382.7(POMT2):c.1006+4_1006+7del	POMT2	Deletion (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GConflicting classifications of pathogenicity
Select item 130015	NM_013382.7(POMT2):c.1006+5G>A	POMT2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3219	NM_013382.7(POMT2):c.1006+1G>A	POMT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GConflicting classifications of pathogenicity
Select item 449378	NM_013382.7(POMT2):c.924-2A>C	POMT2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 130017	NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)	POMT2 (Y294C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 835081	NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)	POMT2 (G266R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GConflicting classifications of pathogenicity
Select item 2429238	NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)	POMT2 (W262*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GPathogenic/Likely pathogenic
Select item 649496	NM_013382.7(POMT2):c.673del (p.Trp225fs)	LOC130056175, POMT2 (W225fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic/Likely pathogenic
Select item 3229	NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	POMT2	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 285067	NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	POMT2 (R99C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2678033	NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)	POMT2 (Y96C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GPathogenic
Select item 2678037	NM_013382.7(POMT2):c.253del (p.Asp85fs)	POMT2 (D85fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 501767	NM_013382.7(POMT2):c.248+2T>C	POMT2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678034	NM_013382.7(POMT2):c.248+1G>T	POMT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 2678024	NM_013382.7(POMT2):c.248+1G>A	POMT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 579369	NM_013382.7(POMT2):c.248+1G>C	POMT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic/Likely pathogenic
Select item 2678028	NM_013382.7(POMT2):c.188del (p.Leu63fs)	POMT2 (L63fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 2678030	NM_013382.7(POMT2):c.163dup (p.Val55fs)	POMT2 (V55fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 2678031	NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)	POMT2 (W47*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 2202245	NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)	POMT2 (K43*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic/Likely pathogenic
Select item 2678029	NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)	POMT2 (R40*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45