ClinVar for MedGen (Select 2455) - ClinVar

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

Links from MedGen

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579718	NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)	GJD2-DT, ACTC1 (R227H +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis	GLikely pathogenic
Select item 1324108	NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter)	COL25A1 (R128*)	Single nucleotide variant (nonsense +1 more)	Fibrosis of extraocular muscles, congenital, 5 +1 more	GLikely pathogenic
Select item 692325	NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 692324	NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn)	VPS13D (D1415N)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 692323	NM_015378.4(VPS13D):c.518G>A (p.Gly173Asp)	VPS13D (G173D)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +2 more	GUncertain significance
Select item 692322	NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)	DYNC1H1 (V3453I)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 692321	NM_024532.5(SPAG16):c.1896A>C (p.Ter632Cys)	SPAG16	Single nucleotide variant (stop lost +1 more)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692320	NM_024532.5(SPAG16):c.1423_1426del (p.Tyr475fs)	SPAG16 (Y475fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692319	NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)	BLTP1 (Y3964H +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692318	NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)	BLTP1 (R1309Q)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692317	NM_000262.3(NAGA):c.917A>T (p.Asn306Ile)	NAGA (N306I)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692316	NM_001142782.2(MAGI3):c.2565A>T (p.Gln855His)	MAGI3 (Q855H)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692315	NM_133637.3(DQX1):c.769C>T (p.Arg257Trp)	DQX1 (R257W)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692314	NM_022139.4(GFRA4):c.244G>C (p.Ala82Pro)	GFRA4 (A82P)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692313	NM_001032283.3(TMPO):c.993G>A (p.Val331=)	TMPO	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692312	NM_001353803.2(ZNF875):c.1452del (p.Arg485fs)	ZNF875 (R390fs +10 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692311	NM_001036.6(RYR3):c.13814A>G (p.Asp4605Gly)	AVEN, RYR3 (D4600G +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692310	NM_001170738.2(IQSEC3):c.3546G>A (p.Val1182=)	IQSEC3, IQSEC3-AS1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692309	NM_001170738.2(IQSEC3):c.1058T>C (p.Leu353Pro)	LOC574538, IQSEC3 (L353P +1 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692308	NM_006836.2(GCN1):c.3581C>A (p.Ala1194Glu)	GCN1 (A1194E)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692307	NM_014795.4(ZEB2):c.444T>G (p.Phe148Leu)	ZEB2 (F148L +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692306	NM_001080.3(ALDH5A1):c.814del (p.Cys272fs)	ALDH5A1 (C272fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692305	NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	SCN8A (I240T)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +2 more	GLikely pathogenic
Select item 692304	NM_153026.3(PRICKLE1):c.1682A>T (p.Tyr561Phe)	PRICKLE1 (Y561F)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692303	NM_005807.6(PRG4):c.3569G>A (p.Gly1190Asp)	PRG4 (G1190D +4 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692302	NM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln)	FBLN1 (R664Q)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692301	NM_001083614.2(EARS2):c.1277_1279dup (p.Thr426_Arg427insPro)	EARS2	Duplication (inframe_insertion +1 more)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 692300	NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	EARS2 (A272T)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GLikely pathogenic
Select item 692299	NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)	ATP2B3 (S66L)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692298	NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	ASPM (Q955*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive +3 more	GPathogenic
Select item 692297	NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)	ASAH1 (G158V +3 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 692296	NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	ASAH1 (D46N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692295	NM_152328.5(ADSS1):c.741del (p.Lys248fs)	ADSS1 (K291fs +2 more)	Deletion (frameshift variant)	Myopathy, distal, 5 +3 more	GPathogenic/Likely pathogenic
Select item 692294	NM_014044.7(UNC50):c.287C>G (p.Thr96Ser)	UNC50 (T96S +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692293	NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)	SCN4A (L673P)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692292	NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	RYR1 (L2433P)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
Select item 692291	NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	RYR1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692290	NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	RYR1 (A612D)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692289	NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	RYR1 (V3340M)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692288	NM_000540.3(RYR1):c.5618del (p.Glu1873fs)	RYR1 (E1873fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita +1 more	GPathogenic
Select item 692287	NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	RYR1 (T2675K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GLikely pathogenic
Select item 692286	NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)	RYR1 (P836fs)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic/Likely pathogenic
Select item 692285	NM_000540.3(RYR1):c.14647-15_14649del	RYR1	Deletion (splice acceptor variant)	Arthrogryposis multiplex congenita +1 more	GPathogenic
Select item 692284	NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)	RYR1 (G723R)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692283	NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	RAPSN (A265V)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692282	NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)	PIEZO2 (Y304C)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +2 more	GConflicting classifications of pathogenicity
Select item 692281	NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	NALCN (Y64C)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692280	NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	NALCN (V566F +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692279	NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	NALCN (F317C)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692278	NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)	LGI4 (L344Q)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692277	NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	LGI4 (W168C)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692276	NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys)	GLDN (R269K +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 692275	NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)	CNTNAP1 (V636M)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692274	NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	CNTNAP1, LOC125177481 (Y23*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita +1 more	GPathogenic
Select item 692273	NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)	CHRND (C50S +3 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 692272	NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	CHRNG (I237K)	Indel (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GLikely pathogenic
Select item 692271	NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)	ACTA1 (G247R)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic
Select item 632606	NM_017412.4(FZD3):c.1616dup (p.Asp539fs)	FZD3 (D539fs)	Duplication (frameshift variant)	Corpus callosum, agenesis of +4 more	GLikely pathogenic
Select item 632546	NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)	PIEZO2 (R462*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 619021	NM_001198800.3(ASCC1):c.626+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 596726	NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)	ROR2 (G559S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 498455	NM_004560.4(ROR2):c.808A>G (p.Ile270Val)	ROR2 (I270V)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +2 more	GConflicting classifications of pathogenicity
Select item 497298	NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	RAPSN (R91L)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
Select item 452116	NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	GLDN (F476L +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic/Likely pathogenic
Select item 425301	NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	GBE1 (R565W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 280518	NM_018136.5(ASPM):c.3082+1G>C	ASPM	Single nucleotide variant (splice donor variant)	Microcephaly 5, primary, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 191499	NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)	SCN5A (S1737F +5 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +3 more	GConflicting classifications of pathogenicity
Select item 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 159864	NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	RYR1 (C3193W)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +6 more	GPathogenic
Select item 1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1 (I871T)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 71