ClinVar for Gene (Select 55624) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391840	GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3	ACADM, ACOT11 +251 more	Copy number gain	not provided	GPathogenic
Select item 3391187	NM_017739.4(POMGNT1):c.1607T>C (p.Leu536Pro)	POMGNT1, TSPAN1 (L393P +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	GUncertain significance
Select item 3381958	NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)	TSPAN1, POMGNT1 (W212* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GLikely pathogenic
Select item 3381819	NM_017739.4(POMGNT1):c.359T>C (p.Leu120Pro)	POMGNT1, TSPAN1 (L120P +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3379669	NM_017739.4(POMGNT1):c.1026+5G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3362815	NM_017739.4(POMGNT1):c.49A>T (p.Lys17Ter)	POMGNT1 (K17*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3360804	NM_017739.4(POMGNT1):c.521T>C (p.Ile174Thr)	POMGNT1 (I152T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343013	NM_017739.4(POMGNT1):c.1660G>T (p.Val554Phe)	POMGNT1, TSPAN1 (V411F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339038	NM_017739.4(POMGNT1):c.1769G>C (p.Trp590Ser)	POMGNT1, TSPAN1 (W447S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337490	NM_017739.4(POMGNT1):c.1532A>C (p.Tyr511Ser)	POMGNT1, TSPAN1 (Y368S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3308899	NM_017739.4(POMGNT1):c.122C>T (p.Thr41Ile)	POMGNT1 (T19I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3308898	NM_017739.4(POMGNT1):c.1950G>T (p.Glu650Asp)	POMGNT1, TSPAN1 (G642* +3 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3292314	NM_001013615.3(LURAP1):c.38G>T (p.Arg13Leu)	LURAP1, POMGNT1 (R13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292313	NM_001013615.3(LURAP1):c.262G>A (p.Glu88Lys)	LURAP1, POMGNT1 (E88K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292311	NM_001013615.3(LURAP1):c.412C>T (p.Arg138Trp)	LURAP1, POMGNT1 (R138W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250278	NC_000001.11:g.(?_46188718)_(46190785_46192097)del	POMGNT1, TSPAN1	Deletion	Retinal dystrophy	GPathogenic
Select item 3249820	NM_017739.4(POMGNT1):c.1906C>A (p.Pro636Thr)	POMGNT1, TSPAN1 (A627D +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249645	NM_017739.4(POMGNT1):c.*505G>A	POMGNT1, TSPAN1 (R704K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3249380	NM_017739.4(POMGNT1):c.*533G>A	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3247802	NC_000001.10:g.(?_46662492)_(46662823_?)del	POMGNT1	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely pathogenic
Select item 3247801	NC_000001.10:g.(?_46654942)_(46655681_?)del	POMGNT1	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 3240184	NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)	POMGNT1, TSPAN1 (Q214* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240183	NM_017739.4(POMGNT1):c.625_626insAA (p.Thr209fs)	POMGNT1, TSPAN1 (T187fs +2 more)	Insertion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240182	NM_017739.4(POMGNT1):c.660del (p.Phe221fs)	POMGNT1, TSPAN1 (F199fs +2 more)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240181	NM_017739.4(POMGNT1):c.1461_1462dup (p.Arg488fs)	POMGNT1, TSPAN1 (R345fs +2 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3240180	NM_017739.4(POMGNT1):c.776_777del (p.Thr259fs)	POMGNT1, TSPAN1 (T116fs +2 more)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 3216727	NM_017739.4(POMGNT1):c.1839A>T (p.Arg613Ser)	POMGNT1, TSPAN1 (R613S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216726	NM_017739.4(POMGNT1):c.1613A>G (p.Lys538Arg)	POMGNT1, TSPAN1 (K395R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121556	NM_001013615.3(LURAP1):c.661C>G (p.Leu221Val)	LURAP1, POMGNT1 (L221V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121553	NM_001013615.3(LURAP1):c.349G>A (p.Gly117Arg)	LURAP1, POMGNT1 (G117R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121552	NM_001013615.3(LURAP1):c.289C>T (p.Arg97Trp)	LURAP1, POMGNT1 (R97W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121551	NM_001013615.3(LURAP1):c.199G>T (p.Ala67Ser)	LURAP1, POMGNT1 (A67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121550	NM_001013615.3(LURAP1):c.127C>A (p.Leu43Met)	LURAP1, POMGNT1 (L43M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056787	NM_001243766.2(POMGNT1):c.-50-671_-50-666dup	POMGNT1, LOC129930471	Duplication (intron variant)	POMGNT1-related disorder	GLikely benign
Select item 3041831	NM_017739.4(POMGNT1):c.121-278A>G	POMGNT1	Single nucleotide variant (5 prime UTR variant +1 more)	POMGNT1-related disorder	GBenign
Select item 3033701	NM_017739.4(POMGNT1):c.*302A>G	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	POMGNT1-related disorder	GLikely benign
Select item 3031290	NM_001243766.2(POMGNT1):c.-50-671_-50-663del	LOC129930471, POMGNT1	Deletion (intron variant)	POMGNT1-related disorder	GLikely benign
Select item 3028809	NM_017739.4(POMGNT1):c.89C>T (p.Thr30Ile)	POMGNT1 (T30I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028798	NM_017739.4(POMGNT1):c.499G>A (p.Val167Ile)	POMGNT1, TSPAN1 (V145I +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028780	NM_017739.4(POMGNT1):c.812A>G (p.Lys271Arg)	POMGNT1, TSPAN1 (K128R +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028725	NM_017739.4(POMGNT1):c.1733T>G (p.Phe578Cys)	POMGNT1, TSPAN1 (F435C +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028718	NM_017739.4(POMGNT1):c.1748A>G (p.Lys583Arg)	POMGNT1, TSPAN1 (K440R +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028713	NM_017739.4(POMGNT1):c.*295G>A	POMGNT1, TSPAN1 (G634D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028708	NM_017739.4(POMGNT1):c.*551A>G	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GLikely benign
Select item 2954555	NM_017739.4(POMGNT1):c.420+17G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954403	NM_017739.4(POMGNT1):c.1152+13G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954367	NM_017739.4(POMGNT1):c.236-17C>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954283	NM_017739.4(POMGNT1):c.615C>T (p.Gly205=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2954122	NM_017739.4(POMGNT1):c.653-5G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953956	NM_017739.4(POMGNT1):c.1895+9C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953869	NM_017739.4(POMGNT1):c.951-9G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953461	NM_017739.4(POMGNT1):c.1227C>T (p.Ser409=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2953139	NM_017739.4(POMGNT1):c.1095T>C (p.Asn365=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2953071	NM_017739.4(POMGNT1):c.1212-8T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952979	NM_017739.4(POMGNT1):c.1026+12T>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952867	NM_017739.4(POMGNT1):c.121-17C>A	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952864	NM_017739.4(POMGNT1):c.324C>T (p.Ser108=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952848	NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)	POMGNT1, TSPAN1 (P148S +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 2952659	NM_017739.4(POMGNT1):c.1111-16C>T	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952656	NM_017739.4(POMGNT1):c.129C>G (p.Ala43=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952649	NM_017739.4(POMGNT1):c.354+8G>A	POMGNT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952571	NM_017739.4(POMGNT1):c.546C>T (p.Ser182=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952127	NM_017739.4(POMGNT1):c.1059G>A (p.Leu353=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2952070	NM_017739.4(POMGNT1):c.751+18T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2951664	NM_017739.4(POMGNT1):c.175C>T (p.Leu59=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2951286	NM_017739.4(POMGNT1):c.535-4C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2951248	NM_017739.4(POMGNT1):c.1285-13_1285-12del	POMGNT1, TSPAN1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2951115	NM_017739.4(POMGNT1):c.355-6G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950947	NM_017739.4(POMGNT1):c.1895+19C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950896	NM_017739.4(POMGNT1):c.1812G>A (p.Val604=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950710	NM_017739.4(POMGNT1):c.653-7C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950694	NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)	TSPAN1, POMGNT1 (Y315* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2950517	NM_017739.4(POMGNT1):c.1605-6_1605-5del	POMGNT1, TSPAN1	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950418	NM_017739.4(POMGNT1):c.1786-11A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950235	NM_017739.4(POMGNT1):c.1539+19G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2950112	NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)	POMGNT1 (Q32*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2950090	NM_017739.4(POMGNT1):c.1153-20A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2949318	NM_017739.4(POMGNT1):c.1110+5T>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2949284	NM_017739.4(POMGNT1):c.1188G>C (p.Leu396=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2948971	NM_017739.4(POMGNT1):c.653-20T>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2948667	NM_017739.4(POMGNT1):c.1539+17del	POMGNT1, TSPAN1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2948478	NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2948415	NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)	TSPAN1, POMGNT1 (D100fs +2 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2948352	NM_017739.4(POMGNT1):c.72C>T (p.Thr24=)	POMGNT1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2948324	NM_017739.4(POMGNT1):c.421-12A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2948020	NM_017739.4(POMGNT1):c.1539+15G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2947830	NM_017739.4(POMGNT1):c.270C>A (p.Arg90=)	POMGNT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2947773	NM_017739.4(POMGNT1):c.1191C>T (p.Asp397=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2947752	NM_017739.4(POMGNT1):c.1663C>T (p.Leu555=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2947522	NM_017739.4(POMGNT1):c.1153-18G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2947427	NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)	POMGNT1, TSPAN1 (V576fs +2 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GPathogenic
Select item 2947397	NM_017739.4(POMGNT1):c.459A>G (p.Ser153=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946937	NM_017739.4(POMGNT1):c.235+18A>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946842	NM_017739.4(POMGNT1):c.421-14A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946830	NM_017739.4(POMGNT1):c.357G>A (p.Val119=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946748	NM_017739.4(POMGNT1):c.81T>C (p.Tyr27=)	POMGNT1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946666	NM_017739.4(POMGNT1):c.1896-5C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946188	NM_017739.4(POMGNT1):c.951-15C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946167	NM_017739.4(POMGNT1):c.1212-16A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2945956	NM_017739.4(POMGNT1):c.1026+19dup	POMGNT1, TSPAN1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GBenign

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