ClinVar for MedGen (Select 1799561) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688692	NM_001199563.2(BVES):c.937A>G (p.Thr313Ala)	BVES (T313A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2688691	NM_001199563.2(BVES):c.551C>T (p.Ser184Phe)	BVES (S184F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GUncertain significance
Select item 2439607	NM_001199563.2(BVES):c.467A>G (p.Lys156Arg)	BVES (K156R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439606	NM_001199563.2(BVES):c.931C>T (p.Arg311Trp)	BVES (R311W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439605	NM_001199563.2(BVES):c.199A>G (p.Ile67Val)	BVES (I67V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439603	NM_001199563.2(BVES):c.471G>T (p.Lys157Asn)	BVES (K157N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GUncertain significance
Select item 2439602	NM_001199563.2(BVES):c.932G>A (p.Arg311Gln)	BVES (R311Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439601	NM_001199563.2(BVES):c.841C>G (p.Leu281Val)	BVES (L281V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439600	NM_001199563.2(BVES):c.876G>A (p.Met292Ile)	BVES (M292I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439599	NM_001199563.2(BVES):c.64G>C (p.Glu22Gln)	BVES (E22Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439598	NM_001199563.2(BVES):c.184C>G (p.Leu62Val)	BVES (L62V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GUncertain significance
Select item 2439597	NM_001199563.2(BVES):c.569T>C (p.Leu190Pro)	BVES (L190P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439596	NM_001199563.2(BVES):c.1033G>A (p.Val345Ile)	BVES (V345I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439594	NM_001199563.2(BVES):c.771C>G (p.Ile257Met)	BVES (I257M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439593	NM_001199563.2(BVES):c.938C>T (p.Thr313Ile)	BVES (T313I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439592	NM_001199563.2(BVES):c.1073A>G (p.Gln358Arg)	BVES (Q358R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439591	NM_001199563.2(BVES):c.758T>C (p.Ile253Thr)	BVES (I253T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439590	NM_001199563.2(BVES):c.244G>A (p.Val82Ile)	BVES (V82I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439589	NM_001199563.2(BVES):c.263G>A (p.Arg88Gln)	BVES (R88Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GUncertain significance
Select item 2439588	NM_001199563.2(BVES):c.938_939insT (p.Ser314fs)	BVES (S314fs)	Insertion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439587	NM_001199563.2(BVES):c.74T>C (p.Ile25Thr)	BVES (I25T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439586	NM_001199563.2(BVES):c.807A>T (p.Leu269Phe)	BVES (L269F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2439585	NM_001199563.2(BVES):c.515G>A (p.Arg172His)	BVES (R172H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GUncertain significance
Select item 2439584	NM_001199563.2(BVES):c.572A>G (p.His191Arg)	BVES (H191R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GUncertain significance
Select item 2352385	NM_001199563.2(BVES):c.386G>A (p.Arg129Gln)	BVES (R129Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723441	NM_001199563.2(BVES):c.518dup (p.Ser174fs)	BVES (S174fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GLikely pathogenic
Select item 1702994	NM_001199563.2(BVES):c.578T>G (p.Ile193Ser)	BVES (I193S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GPathogenic
Select item 1307192	NM_001199563.2(BVES):c.836A>G (p.His279Arg)	BVES (H279R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1203460	NM_001199563.2(BVES):c.910G>A (p.Asp304Asn)	BVES (D304N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +2 more	GUncertain significance
Select item 1192587	NM_001199563.2(BVES):c.227-23G>A	BVES	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GBenign
Select item 1192586	NM_001199563.2(BVES):c.351+30T>G	BVES	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GBenign
Select item 1192585	NM_001199563.2(BVES):c.*114G>A	BVES	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GBenign
Select item 776144	NM_001199563.2(POPDC1):c.708A>C (p.Thr236=)	POPDC1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GBenign/Likely benign
Select item 731903	NM_001199563.2(POPDC1):c.574A>G (p.Asn192Asp)	POPDC1 (N192D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GConflicting classifications of pathogenicity
Select item 626315	NM_001199563.2(BVES):c.1A>G (p.Met1Val)	BVES (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GPathogenic
Select item 626314	NM_001199563.2(BVES):c.262C>T (p.Arg88Ter)	BVES (R88*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 626313	NM_001199563.2(BVES):c.816+2T>C	BVES	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X	GPathogenic
Select item 624258	NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter)	POPDC1 (Q153*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 222033	NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe)	POPDC1 (S201F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

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Links from MedGen

Items: 39