BVES[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
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 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 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 2610239	NM_001199563.2(BVES):c.1001C>A (p.Pro334Gln)	BVES (P334Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 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 3262343	NM_001199563.2(BVES):c.895T>A (p.Ser299Thr)	BVES (S299T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2633989	NM_001199563.2(BVES):c.845G>A (p.Ser282Asn)	BVES (S282N)	Single nucleotide variant (missense variant)	BVES-related disorder	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 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 1195519	NM_001199563.2(BVES):c.817-182T>C	BVES	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288486	NM_001199563.2(BVES):c.817-188G>T	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195676	NM_001199563.2(BVES):c.816+268_816+269del	BVES	Microsatellite (intron variant)	not provided	GLikely benign
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 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 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 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 1305079	NM_001199563.2(BVES):c.752A>G (p.Tyr251Cys)	BVES (Y251C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377143	NM_001199563.2(BVES):c.731_734del (p.Phe244fs)	BVES (F244fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1233181	NM_001199563.2(BVES):c.648+323A>G	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189462	NM_001199563.2(BVES):c.648+310G>A	BVES	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218052	NM_001199563.2(BVES):c.648+139_648+140dup	BVES	Duplication (intron variant)	not provided	GLikely benign
Select item 1277690	NM_001199563.2(BVES):c.648+159_648+161del	BVES	Deletion (intron variant)	not provided	GBenign
Select item 1226199	NM_001199563.2(BVES):c.648+160_648+161del	BVES	Deletion (intron variant)	not provided	GBenign
Select item 1209228	NM_001199563.2(BVES):c.648+161del	BVES	Deletion (intron variant)	not provided	GLikely benign
Select item 1686644	NM_001199563.2(BVES):c.602C>G (p.Ser201Cys)	BVES (S201C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3262345	NM_001199563.2(BVES):c.589G>A (p.Ala197Thr)	BVES (A197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 1271568	NM_001199563.2(BVES):c.540-278T>C	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246640	NM_001199563.2(BVES):c.539+162A>G	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3262340	NM_001199563.2(BVES):c.532A>C (p.Lys178Gln)	BVES (K178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547208	NM_001199563.2(BVES):c.521G>C (p.Ser174Thr)	BVES (S174T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 2207278	NM_001199563.2(BVES):c.428G>T (p.Arg143Ile)	BVES (R143I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1163853	NM_001199563.2(BVES):c.427A>T (p.Arg143Ter)	BVES (R143*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2284058	NM_001199563.2(BVES):c.418G>C (p.Asp140His)	BVES (D140H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1237514	NM_001199563.2(BVES):c.352-288G>A	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208003	NM_001199563.2(BVES):c.351+306A>G	BVES	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246639	NM_001199563.2(BVES):c.351+300G>C	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202074	NM_001199563.2(BVES):c.351+150G>A	BVES	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237992	NM_001199563.2(BVES):c.351+143del	BVES	Deletion (intron variant)	not provided	GBenign
Select item 1231955	NM_001199563.2(BVES):c.351+82T>C	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269211	NM_001199563.2(BVES):c.351+55G>A	BVES	Single nucleotide variant (intron variant)	not provided	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 1810627	NM_001199563.2(BVES):c.351G>A (p.Pro117=)	BVES	Single nucleotide variant (synonymous variant)	not provided	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 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 3135638	NM_001199563.2(BVES):c.260A>G (p.Tyr87Cys)	BVES (Y87C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1258141	NM_001199563.2(BVES):c.227-308G>A	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3262344	NM_001199563.2(BVES):c.223C>G (p.Leu75Val)	BVES (L75V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3262339	NM_001199563.2(BVES):c.190C>T (p.Leu64Phe)	BVES (L64F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3262341	NM_001199563.2(BVES):c.139G>A (p.Val47Ile)	BVES (V47I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262338	NM_001199563.2(BVES):c.116A>C (p.Glu39Ala)	BVES (E39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339865	NM_001199563.2(BVES):c.104A>G (p.Glu35Gly)	BVES (E35G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262337	NM_001199563.2(BVES):c.77C>T (p.Pro26Leu)	BVES (P26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2239880	NM_001199563.2(BVES):c.22C>T (p.Pro8Ser)	BVES (P8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1221002	NM_001199563.2(BVES):c.-11-5del	BVES	Deletion (intron variant)	not provided	GBenign
Select item 1197296	NM_001199563.2(BVES):c.-11-10_-11-9delinsC	BVES	Indel (intron variant)	not provided	GLikely benign
Select item 1287466	NM_001199563.2(BVES):c.-11-10G>C	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190508	NM_001199563.2(BVES):c.-11-190C>A	BVES	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275702	NM_001199563.2(BVES):c.-11-308T>A	BVES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2685212	GRCh37/hg19 6q21(chr6:105546265-105660039)x1	BVES, POPDC3	Copy number loss	not provided	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807989	GRCh37/hg19 6q21(chr6:105551316-105870467)x3	BVES, POPDC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1527272	GRCh37/hg19 6q21(chr6:105550491-107378236)	ATG5, BVES +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527271	GRCh37/hg19 6q16.3-21(chr6:105406897-105573285)	BVES, LIN28B	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 688213	GRCh37/hg19 6q21(chr6:105538029-105659133)x1	BVES, POPDC3	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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