C5779613[trait identifier] AND "Cirak Lab, University Hospital Cologne - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 191499	NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)	SCN5A (S1737F +5 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 619021	NM_001198800.3(ASCC1):c.626+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	Spinal muscular atrophy with congenital bone fractures 2 +3 more	GPathogenic/Likely 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 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 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 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 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 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 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 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 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 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 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 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 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 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 692276	NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys)	GLDN (R269K +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 452116	NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	GLDN (F476L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 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 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 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
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 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 1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1 (I871T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 692288	NM_000540.3(RYR1):c.5618del (p.Glu1873fs)	RYR1 (E1873fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita +1 more	GPathogenic
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 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 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 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 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 692285	NM_000540.3(RYR1):c.14647-15_14649del	RYR1	Deletion (splice acceptor variant)	Arthrogryposis multiplex congenita +1 more	GPathogenic
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 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 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 692299	NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)	ATP2B3 (S66L)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic

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Items: 68