"moi autosomal recessive"[Properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297123	NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser)	SAMD11 (P108S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 959730	NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu)	SAMD11 (K366E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3068432	NM_001394713.1(PERM1):c.2149+1062_2162del	AGRN, PERM1	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 8	GPathogenic
Select item 581563	NM_198576.4(AGRN):c.183G>C (p.Gln61His)	AGRN (Q61H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GUncertain significance
Select item 128296	NM_198576.4(AGRN):c.261C>T (p.Asp87=)	LOC126805576, AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 666960	NM_198576.4(AGRN):c.574_578dup (p.Ser194fs)	AGRN (S194fs +1 more)	Microsatellite (frameshift variant)	Congenital myasthenic syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 128320	NM_198576.4(AGRN):c.804C>T (p.Ala268=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 128291	NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg)	AGRN (Q353R +1 more)	Single nucleotide variant (missense variant)	AGRN-related condition +3 more	GBenign
Select item 128292	NM_198576.4(AGRN):c.1178-6T>C	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 474098	NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)	AGRN (R400W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 263161	NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)	AGRN (P465L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 128293	NM_198576.4(AGRN):c.2025C>G (p.Gly675=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 1055986	NM_198576.4(AGRN):c.2093C>T (p.Ser698Leu)	AGRN (S593L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 128294	NM_198576.4(AGRN):c.2183A>T (p.Glu728Val)	AGRN (E728V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128295	NM_198576.4(AGRN):c.2406C>T (p.Gly802=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 128297	NM_198576.4(AGRN):c.3066A>G (p.Ser1022=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128298	NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe)	AGRN (L1088F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128299	NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg)	AGRN (Q1135R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 128300	NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128301	NM_198576.4(AGRN):c.3516+10G>C	AGRN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 128302	NM_198576.4(AGRN):c.3558T>C (p.Phe1186=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128303	NM_198576.4(AGRN):c.3570C>T (p.Arg1190=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128304	NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu)	AGRN (P1289L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128305	NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp)	AGRN (R1322W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 128306	NM_198576.4(AGRN):c.3972G>A (p.Pro1324=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128307	NM_198576.4(AGRN):c.4161T>C (p.Thr1387=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128308	NM_198576.4(AGRN):c.4452C>T (p.Thr1484=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128309	NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr)	AGRN (A1514T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128311	NM_198576.4(AGRN):c.4740C>T (p.Arg1580=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128312	NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile)	AGRN (V1666I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 243039	NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	AGRN (G1675S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 128313	NM_198576.4(AGRN):c.5070C>T (p.Phe1690=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 617537	NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro)	AGRN (L1759P +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GLikely pathogenic
Select item 128314	NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)	AGRN (D1785N +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 128315	NM_198576.4(AGRN):c.5358T>C (p.Gly1786=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128316	NM_198576.4(AGRN):c.5598C>T (p.Thr1866=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 128317	NM_198576.4(AGRN):c.5651+5C>T	AGRN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 8 +1 more	GBenign
Select item 128318	NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr)	AGRN (S1909T +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 1332734	NM_198576.4(AGRN):c.5824C>T (p.Arg1942Cys)	AGRN (R1841C +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8	GUncertain significance
Select item 128319	NM_198576.4(AGRN):c.6057C>T (p.Asp2019=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 996068	NM_080605.4(B3GALT6):c.227del (p.Ile76fs)	B3GALT6 (I76fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2	GPathogenic
Select item 986387	NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)	B3GALT6 (F149L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +3 more	GConflicting classifications of pathogenicity
Select item 427130	NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	B3GALT6 (R197fs)	Duplication (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1691282	NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)	B3GALT6 (A250V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GUncertain significance
Select item 666963	NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter)	B3GALT6 (Q255*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia	GLikely pathogenic
Select item 996067	NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)	B3GALT6 (R256W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2	GPathogenic
Select item 453100	NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser)	B3GALT6 (N273S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +3 more	GUncertain significance
Select item 402162	NM_032348.4(MXRA8):c.1238T>A (p.Ile413Asn)	MXRA8 (I413N +3 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +3 more	GPathogenic/Likely pathogenic
Select item 2664084	NM_022834.5(VWA1):c.662dup (p.Glu222fs)	VWA1 (E222fs)	Duplication (frameshift variant +1 more)	Neuronopathy, distal hereditary motor	GLikely pathogenic
Select item 992485	NM_001170535.3(ATAD3A):c.150C>G (p.Phe50Leu)	ATAD3A (F50L)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 225697	NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)	ATAD3A (T53I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1077177	NM_001170535.3(ATAD3A):c.282+484_444+231del	ATAD3A	Deletion (splice acceptor variant +1 more)	Harel-Yoon syndrome	GPathogenic
Select item 992486	NM_001170535.3(ATAD3A):c.508C>T (p.Arg170Trp)	ATAD3A (R170W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992487	NM_001170535.3(ATAD3A):c.707G>T (p.Gly236Val)	ATAD3A (G157V +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992488	NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro)	ATAD3A (R248P +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1298337	NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly)	ATAD3A (R257G +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GUncertain significance
Select item 992489	NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs)	ATAD3A (V302fs +2 more)	Duplication (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 637018	NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg)	ATAD3A (L406R +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GPathogenic
Select item 992490	NM_001170535.3(ATAD3A):c.1414del (p.His472fs)	ATAD3A (H393fs +2 more)	Deletion (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 992491	NM_001170535.3(ATAD3A):c.1700AGA[1] (p.Lys568del)	ATAD3A (K489del +2 more)	Microsatellite (inframe_deletion)	Harel-Yoon syndrome	GUncertain significance
Select item 2412693	NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)	TMEM240 (S16*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 21	GUncertain significance
Select item 197887	NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)	PEX10 (T294A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1804978	NM_002617.4(PEX10):c.637dup (p.Ala213fs)	PEX10 (A213fs +4 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B	GPathogenic
Select item 974615	NM_002617.4(PEX10):c.530T>G (p.Leu177Arg)	PEX10 (L33R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 129884	NM_002617.4(PEX10):c.291A>G (p.Thr97=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 129883	NM_002617.4(PEX10):c.279C>T (p.Gly93=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GBenign
Select item 870567	NM_002617.4(PEX10):c.98T>G (p.Leu33Arg)	PEX10 (L33R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6B	GUncertain significance
Select item 996853	NM_014638.4(PLCH2):c.15G>A (p.Trp5Ter)	PLCH2 (W5*)	Single nucleotide variant (5 prime UTR variant +2 more)	See cases	GUncertain significance
Select item 569168	NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg)	CEP104 (G913R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1623071	NM_014704.4(CEP104):c.2662+10A>T	CEP104	Single nucleotide variant (intron variant)	Joubert syndrome 25 +1 more	GConflicting classifications of pathogenicity
Select item 1805018	NM_014704.4(CEP104):c.2503+1G>A	CEP104	Single nucleotide variant (splice donor variant)	Joubert syndrome 25	GUncertain significance
Select item 1806317	NM_014704.4(CEP104):c.1264G>A (p.Glu422Lys)	CEP104 (E422K)	Single nucleotide variant (missense variant)	Joubert syndrome 25	GUncertain significance
Select item 800522	NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer)	CEP104	Microsatellite (frameshift variant)	Joubert syndrome 25	GPathogenic/Likely pathogenic
Select item 1343412	NM_015102.5(NPHP4):c.3920T>A (p.Leu1307Gln)	NPHP4 (L1307Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 1382268	NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)	NPHP4 (W640* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 812121	NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)	NPHP4 (T464M +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 167373	NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	NPHP4 (R961H +2 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis +6 more	GConflicting classifications of pathogenicity
Select item 1297092	NM_015102.5(NPHP4):c.2598_2607dup (p.Arg870fs)	NPHP4 (R357fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 562354	NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)	NPHP4 (G860E +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 95675	NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)	NPHP4 (R848W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 499066	NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)	NPHP4 (P677S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GConflicting classifications of pathogenicity
Select item 240965	NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)	NPHP4 (E618K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 1805219	NM_015102.5(NPHP4):c.1503+2dup	NPHP4	Duplication (intron variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 2577458	NM_015102.5(NPHP4):c.1336C>T (p.Gln446Ter)	NPHP4 (Q446*)	Single nucleotide variant (non-coding transcript variant +2 more)	Nephronophthisis 4	GPathogenic
Select item 929940	NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs)	NPHP4 (M348fs)	Duplication (5 prime UTR variant +2 more)	Nephronophthisis	GLikely pathogenic
Select item 943026	NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)	NPHP4 (A279fs)	Deletion (5 prime UTR variant +2 more)	Nephronophthisis 4 +2 more	GPathogenic/Likely pathogenic
Select item 3066276	NM_015102.5(NPHP4):c.793C>T (p.Gln265Ter)	NPHP4 (Q265*)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis 4	GPathogenic
Select item 1297093	NM_015102.5(NPHP4):c.770_777del (p.Glu257fs)	NPHP4 (E257fs)	Deletion (5 prime UTR variant +3 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 1431545	NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter)	NPHP4 (R229*)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis	GPathogenic
Select item 968316	NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)	NPHP4 (Q173*)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis 4 +1 more	GPathogenic
Select item 562355	NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)	NPHP4 (Q45*)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis +2 more	GPathogenic/Likely pathogenic
Select item 804431	NM_207396.3(RNF207):c.1109+1G>A	RNF207	Single nucleotide variant (splice donor variant)	Long QT syndrome	GLikely pathogenic
Select item 450999	NM_031475.3(ESPN):c.1464+1G>A	ESPN	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1342840	NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr)	ESPN (A594T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GUncertain significance
Select item 984702	NM_031475.3(ESPN):c.1916-1G>C	ESPN	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic
Select item 225044	NM_031475.3(ESPN):c.2257T>C (p.Trp753Arg)	ESPN (W753R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2671695	NM_031475.3(ESPN):c.2263C>T (p.Arg755Cys)	ESPN (R725C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 36	GUncertain significance
Select item 1443667	NM_031475.2(ESPN):c.2339_2341delAGG	ESPN	Microsatellite	not provided +1 more	GUncertain significance

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