C2931907[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56582	NM_017739.4(POMGNT1):c.1539+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	POMGNT1-related disorder +10 more	GConflicting classifications of pathogenicity
Select item 553478	NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	POMGNT1, TSPAN1 (G505S +2 more)	Single nucleotide variant (missense variant)	Muscle eye brain disease +6 more	GConflicting classifications of pathogenicity
Select item 872288	NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	POMGNT1, TSPAN1 (R299H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 3992	NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	POMGNT1, TSPAN1 (R442C +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +6 more	GPathogenic/Likely pathogenic
Select item 3993	NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	POMGNT1, TSPAN1 (R311Q +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 265399	NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more	GPathogenic
Select item 195490	NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	DYSF (G618R +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 217227	NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)	DYSF (R1693W +13 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2500860	NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)	PLEC	Deletion (initiator_codon_variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy	GUncertain significance
Select item 3255	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	POMT1 (D606fs +10 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +10 more	GPathogenic
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +12 more	GPathogenic/Likely pathogenic
Select item 195705	NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	ANO5 (H841D +1 more)	Single nucleotide variant (missense variant)	ANO5-related disorder +5 more	GConflicting classifications of pathogenicity
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 193037	NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)	CAPN3 (R49C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 217151	NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	CAPN3 (R49H)	Single nucleotide variant (missense variant)	Abnormality of the musculature +4 more	GPathogenic/Likely pathogenic
Select item 813980	NM_000070.3(CAPN3):c.1193+6T>A	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 217146	NM_000070.3(CAPN3):c.1194-9A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic
Select item 281505	NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	CAPN3 (T417M +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more	GPathogenic/Likely pathogenic
Select item 284515	NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	CAPN3 (G445R +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 217149	NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	CAPN3 (R448H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2500947	NM_000070.3(CAPN3):c.1354+129T>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy	GUncertain significance
Select item 501440	NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	CAPN3, LOC130056921 (R461C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 17622	NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	CAPN3 (R490Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic
Select item 498267	NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	CAPN3 (R541W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 92408	NM_000070.3(CAPN3):c.1746-20C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 315905	NM_000070.3(CAPN3):c.*534T>C	CAPN3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 9437	NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	SGCA (R77C)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 167677	NM_000023.4(SGCA):c.739G>A (p.Val247Met)	SGCA (V247M)	Single nucleotide variant (missense variant +2 more)	Sarcoglycanopathy +4 more	GConflicting classifications of pathogenicity
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	FKRP-related disorder +20 more	GPathogenic/Likely pathogenic
Select item 4235	NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	FKRP (N463D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +8 more	GPathogenic/Likely 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: 30