Related gene-specific medical variations for Gene (Select 29954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370298	NM_013382.7(POMT2):c.1253+5G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3363105	NM_013382.7(POMT2):c.884C>A (p.Thr295Lys)	POMT2 (T295K)	Single nucleotide variant (missense variant)	POMT2-related disorder	GUncertain significance
Select item 3244013	NC_000014.8:g.(?_77757660)_(77763722_?)del	POMT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely pathogenic
Select item 3244012	NC_000014.8:g.(?_77743719)_(77772804_?)del	POMT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 3244011	NC_000014.8:g.(?_77757637)_(77757743_?)del	POMT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 3240199	NM_013382.7(POMT2):c.1958del (p.Pro653fs)	POMT2 (P653fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240198	NM_013382.7(POMT2):c.53_78dup (p.Arg27fs)	POMT2 (R27fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240196	NM_013382.7(POMT2):c.2144_2147+9delinsT	POMT2	Indel (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240195	NM_013382.7(POMT2):c.50_59del (p.Arg17fs)	POMT2 (R17fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240194	NM_013382.7(POMT2):c.436G>T (p.Gly146Ter)	POMT2 (G146*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240193	NM_013382.7(POMT2):c.1819dup (p.Leu607fs)	POMT2 (L607fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 2950035	NM_013382.7(POMT2):c.248+15G>T	LOC130056176, POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2946947	NM_013382.7(POMT2):c.6G>C (p.Pro2=)	LOC130056177, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2926560	NM_013382.7(POMT2):c.12C>T (p.Ala4=)	LOC130056177, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2922946	NM_013382.7(POMT2):c.248+19T>A	LOC130056176, POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2922648	NM_013382.7(POMT2):c.248+18C>A	LOC130056176, POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2690683	NM_013382.7(POMT2):c.1653+1G>A	POMT2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2689814	NM_013382.7(POMT2):c.1946T>G (p.Leu649Arg)	POMT2 (L649R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684311	NM_013382.7(POMT2):c.1006+10T>C	POMT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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
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 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 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 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 2437987	NM_013382.7(POMT2):c.1159del (p.Ile387fs)	POMT2 (I387fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2435216	NM_013382.7(POMT2):c.1174A>T (p.Thr392Ser)	POMT2 (T392S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435215	NM_013382.7(POMT2):c.1574A>G (p.Lys525Arg)	POMT2 (K525R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435214	NM_013382.7(POMT2):c.965G>A (p.Arg322Gln)	POMT2 (R322Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435213	NM_013382.7(POMT2):c.1653+3A>T	POMT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2435212	NM_013382.7(POMT2):c.550_552del (p.Thr184del)	POMT2 (T184del)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2435211	NM_013382.7(POMT2):c.2114G>A (p.Gly705Glu)	POMT2 (G705E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435210	NM_013382.7(POMT2):c.1246C>T (p.His416Tyr)	POMT2 (H416Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435209	NM_013382.7(POMT2):c.971C>T (p.Ser324Leu)	POMT2 (S324L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435208	NM_013382.7(POMT2):c.740T>A (p.Leu247His)	POMT2 (L247H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435207	NM_013382.7(POMT2):c.1672C>T (p.Pro558Ser)	POMT2 (P558S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435206	NM_013382.7(POMT2):c.1384A>G (p.Lys462Glu)	POMT2 (K462E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435205	NM_013382.7(POMT2):c.1921G>A (p.Gly641Ser)	POMT2 (G641S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435204	NM_013382.7(POMT2):c.1455G>A (p.Leu485=)	POMT2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2435203	NM_013382.7(POMT2):c.652G>T (p.Asp218Tyr)	POMT2 (D218Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435202	NM_013382.7(POMT2):c.1652G>A (p.Arg551Gln)	POMT2 (R551Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435201	NM_013382.7(POMT2):c.869C>T (p.Pro290Leu)	POMT2 (P290L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435200	NM_013382.7(POMT2):c.86C>G (p.Ala29Gly)	POMT2 (A29G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435199	NM_013382.7(POMT2):c.1943C>T (p.Thr648Ile)	POMT2 (T648I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432830	NM_013382.7(POMT2):c.333+1G>A	POMT2	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +1 more	GPathogenic/Likely pathogenic
Select item 2421174	NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)	LOC130056175, POMT2 (P224L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 2196212	NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)	LOC130056175, POMT2 (S230R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 1646544	NM_013382.7(POMT2):c.660C>T (p.Pro220=)	LOC130056175, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 1568696	NM_013382.7(POMT2):c.30A>G (p.Ala10=)	LOC130056177, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 1501671	NM_013382.7(POMT2):c.16G>A (p.Gly6Ser)	LOC130056177, POMT2 (G6S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 1500684	NM_013382.7(POMT2):c.7C>G (p.Pro3Ala)	LOC130056177, POMT2 (P3A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 1430797	NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)	LOC130056175, POMT2 (W226*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic/Likely pathogenic
Select item 1361621	NM_013382.7(POMT2):c.248+16G>T	LOC130056176, POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 1350904	NM_013382.7(POMT2):c.25C>G (p.Leu9Val)	LOC130056177, POMT2 (L9V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 1323490	NM_013382.7(POMT2):c.1940G>A (p.Trp647Ter)	POMT2 (W647*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1203003	NM_013382.7(POMT2):c.-61G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1141218	NM_013382.7(POMT2):c.699C>T (p.Gly233=)	POMT2, LOC130056175	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 1117426	NM_013382.7(POMT2):c.690C>T (p.Ser230=)	LOC130056175, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 1114427	NM_013382.7(POMT2):c.672C>T (p.Pro224=)	LOC130056175, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 1092683	NM_013382.7(POMT2):c.25C>T (p.Leu9=)	LOC130056177, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 994732	NM_013382.7(POMT2):c.124C>G (p.Pro42Ala)	POMT2 (P42A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964259	NM_013382.7(POMT2):c.13A>T (p.Thr5Ser)	LOC130056177, POMT2 (T5S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 955735	NM_013382.7(POMT2):c.20G>A (p.Gly7Glu)	LOC130056177, POMT2 (G7E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GUncertain significance
Select item 888003	NM_013382.7(POMT2):c.-176C>G	POMT2, LOC130056177	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 888002	NM_013382.7(POMT2):c.-172C>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 888001	NM_013382.7(POMT2):c.-136G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 886738	NM_013382.7(POMT2):c.-113G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 807153	NM_013382.7(POMT2):c.661T>A (p.Phe221Ile)	LOC130056175, POMT2 (F221I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 807152	NM_013382.7(POMT2):c.1754C>T (p.Thr585Ile)	POMT2 (T585I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 793777	NM_013382.7(POMT2):c.9G>A (p.Pro3=)	LOC130056177, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 657322	NM_013382.7(POMT2):c.14C>G (p.Thr5Arg)	LOC130056177, POMT2 (T5R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 645110	NM_013382.7(POMT2):c.685C>T (p.Leu229Phe)	LOC130056175, POMT2 (L229F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 595917	NM_013382.7(POMT2):c.672del (p.Trp225fs)	LOC130056175, POMT2 (W225fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GPathogenic/Likely pathogenic
Select item 595717	NM_013382.7(POMT2):c.665C>G (p.Ser222Cys)	LOC130056175, POMT2 (S222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593713	NM_013382.7(POMT2):c.671C>G (p.Pro224Arg)	LOC130056175, POMT2 (P224R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 577476	NM_013382.7(POMT2):c.658C>T (p.Pro220Ser)	LOC130056175, POMT2 (P220S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 517911	NM_013382.7(POMT2):c.248+20C>G	LOC130056176, POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more	GConflicting classifications of pathogenicity
Select item 501825	NM_013382.7(POMT2):c.700G>A (p.Val234Ile)	LOC130056175, POMT2 (V234I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GConflicting classifications of pathogenicity
Select item 501755	NM_013382.7(POMT2):c.659C>T (p.Pro220Leu)	LOC130056175, POMT2 (P220L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 471393	NM_013382.7(POMT2):c.29C>T (p.Ala10Val)	LOC130056177, POMT2 (A10V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 436381	NM_013382.7(POMT2):c.713G>T (p.Gly238Val)	LOC130056175, POMT2 (G238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 314569	NM_013382.7(POMT2):c.-199C>T	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Limb-girdle muscular dystrophy, recessive	GUncertain significance
Select item 314568	NM_013382.7(POMT2):c.-149C>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314567	NM_013382.7(POMT2):c.-142C>T	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314566	NM_013382.7(POMT2):c.-128C>T	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 314565	NM_013382.7(POMT2):c.-124G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 314564	NM_013382.7(POMT2):c.-64G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GBenign
Select item 314563	NM_013382.7(POMT2):c.-56G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more	GLikely benign
Select item 288656	NM_013382.7(POMT2):c.662T>A (p.Phe221Tyr)	LOC130056175, POMT2 (F221Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285579	NM_013382.7(POMT2):c.-7G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 260301	NM_013382.7(POMT2):c.439-45C>T	POMT2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 260299	NM_013382.7(POMT2):c.1912C>A (p.Arg638=)	POMT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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