CN169374[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210106	NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)	AGRN (E665K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 139113	NM_003036.4(SKI):c.185C>G (p.Ala62Gly)	SKI (A62G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 193249	NM_003036.4(SKI):c.216C>T (p.Pro72=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 213668	NM_003036.4(SKI):c.1163C>T (p.Ala388Val)	SKI (A388V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 197887	NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)	PEX10 (T294A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 227857	NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)	PRDM16 (A34T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 241423	NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 60727	NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)	PRDM16 (V1101M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 474429	NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg)	PRDM16 (G1136R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 541399	NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=)	PRDM16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 241431	NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)	PRDM16 (E1207D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +3 more	GConflicting classifications of pathogenicity
Select item 542194	NM_014704.4(CEP104):c.1884G>T (p.Thr628=)	CEP104, LOC126805586	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 772336	NM_014704.4(CEP104):c.1169A>G (p.His390Arg)	CEP104 (H390R)	Single nucleotide variant (missense variant)	Joubert syndrome 25 +1 more	GBenign/Likely benign
Select item 215887	NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 260558	NM_015102.5(NPHP4):c.3559-19del	NPHP4	Deletion (intron variant)	Nephronophthisis +1 more	GBenign/Likely benign
Select item 220304	NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)	NPHP4 (P1160L +2 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis +5 more	GBenign
Select item 95682	NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	NPHP4 (A1110V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 195610	NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)	NPHP4 (S972G +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GBenign/Likely benign
Select item 167375	NM_015102.5(NPHP4):c.2818-2=	NPHP4	Single nucleotide variant (splice acceptor variant)	not specified +2 more	GBenign
Select item 95675	NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)	NPHP4 (R848W +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GBenign/Likely benign
Select item 194764	NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	NPHP4 (D753N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 240967	NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	NPHP4 (R740H +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +6 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)	not specified +5 more	GBenign/Likely benign
Select item 235419	NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu)	NPHP4 (Q569E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 260545	NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)	NPHP4 (A544G +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 297819	NM_015102.5(NPHP4):c.1503+10G>A	NPHP4	Single nucleotide variant (intron variant)	Senior-Loken syndrome 4 +2 more	GBenign/Likely benign
Select item 215518	NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg)	NPHP4 (P497R)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 4 +3 more	GBenign
Select item 260543	NM_015102.5(NPHP4):c.1470C>T (p.Leu490=)	NPHP4	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GBenign
Select item 166893	NM_015102.5(NPHP4):c.1442-7C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 297825	NM_015102.5(NPHP4):c.1120-13G>T	NPHP4	Single nucleotide variant (intron variant)	Senior-Loken syndrome 4 +2 more	GBenign/Likely benign
Select item 235474	NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr)	NPHP4 (A171T)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +2 more	GBenign/Likely benign
Select item 196471	NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)	NPHP4 (F91L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 260561	NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)	NPHP4 (T29M)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis +5 more	GBenign
Select item 194979	NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)	PLEKHG5 (E723del +2 more)	Microsatellite (inframe_deletion +1 more)	not specified +4 more	GBenign/Likely benign
Select item 378374	NM_020631.6(PLEKHG5):c.440-6A>G	PLEKHG5	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GBenign
Select item 474024	NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=)	PIK3CD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 995587	NM_001365951.3(KIF1B):c.2115+6183T>C	KIF1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 218862	NM_001365951.3(KIF1B):c.2115+6360G>T	KIF1B (M807I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 283154	NM_001365951.3(KIF1B):c.2115+6956A>G	KIF1B (E1006G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 284016	NM_001365951.3(KIF1B):c.2115+7031T>C	KIF1B (I1031T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 240957	NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)	KIF1B (N731S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 291563	NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=)	LOC126805614, KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +4 more	GBenign/Likely benign
Select item 291567	NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)	KIF1B (Y1087C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 196788	NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 284219	NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 215516	NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 240959	NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met)	KIF1B (V1554M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 291583	NM_001365951.3(KIF1B):c.4946+9C>T	KIF1B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 220407	NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 291734	NM_007375.4(TARDBP):c.198T>C (p.Ala66=)	TARDBP	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 522225	NM_007375.4(TARDBP):c.714+69dup	TARDBP	Duplication (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GBenign
Select item 697627	NM_004958.4(MTOR):c.3630T>C (p.Asp1210=)	MTOR	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 695657	NM_004958.4(MTOR):c.1830C>T (p.Phe610=)	MTOR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 414899	NM_004958.4(MTOR):c.663C>G (p.Thr221=)	MTOR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 281891	NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)	MTHFR (T653M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +5 more	GBenign/Likely benign; other
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 126847	NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)	NPPA-AS1, NPPA +1 more (S64R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1285073	NM_000302.4(PLOD1):c.77-3358C>T	LOC112577486, PLOD1 (S58F)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more	GConflicting classifications of pathogenicity
Select item 440168	NM_000302.4(PLOD1):c.303C>T (p.Ser101=)	PLOD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1209958	NM_000302.4(PLOD1):c.1202+14G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 392220	NM_000302.4(PLOD1):c.1756-13C>T	PLOD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 390686	NM_014874.4(MFN2):c.870C>T (p.Gly290=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 199133	NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	MFN2 (G298R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +8 more	GBenign/Likely benign
Select item 447095	NM_000085.5(CLCNKB):c.171G>A (p.Gly57=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 447090	NM_000085.5(CLCNKB):c.1297+5G>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 585703	NM_000085.5(CLCNKB):c.1455G>A (p.Ala485=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 258890	NM_003000.3(SDHB):c.424-37TTC[6]	SDHB	Microsatellite (intron variant)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
Select item 36769	NM_003000.3(SDHB):c.423+20T>A	SDHB	Single nucleotide variant (intron variant)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 183749	NM_003000.3(SDHB):c.21C>T (p.Leu7=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 44641	NM_003000.3(SDHB):c.18C>A (p.Ala6=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +8 more	GBenign
Select item 282934	NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)	HSPG2, LDLRAD2 (A4328T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 295731	NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 295768	NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg)	HSPG2 (G2950R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 289068	NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)	HSPG2 (V2849L +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 290770	NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)	HSPG2 (S2446L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 771686	NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 295815	NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met)	HSPG2 (I2038M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 295820	NM_005529.7(HSPG2):c.5998-7A>G	HSPG2	Single nucleotide variant (intron variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 197547	NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	HSPG2 (R1919C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 197010	NM_005529.7(HSPG2):c.4627-3del	HSPG2	Deletion (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 295896	NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)	HSPG2 (R413Q)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GBenign/Likely benign
Select item 130284	NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)	SELENON (T137A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 95963	NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)	SELENON (C142Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 95966	NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)	SELENON (A195T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 212146	NM_020451.3(SELENON):c.1092+6C>G	SELENON	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 95956	NM_020451.3(SELENON):c.1173T>C (p.Pro391=)	SELENON	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 95959	NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)	SELENON (N502K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1285214	NM_032588.4(TRIM63):c.*2G>A	TRIM63	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 1284939	NM_032588.4(TRIM63):c.1052-21_1052-20del	TRIM63	Deletion (intron variant)	not specified	GLikely benign
Select item 1285188	NM_032588.4(TRIM63):c.597+7G>A	TRIM63	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 703809	NM_032588.4(TRIM63):c.375C>T (p.His125=)	TRIM63	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 707119	NM_032588.4(TRIM63):c.135G>C (p.Arg45=)	TRIM63	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 713880	NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1285028	NM_003665.4(FCN3):c.498G>C (p.Glu166Asp)	FCN3 (E155D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to ficolin3 deficiency	GLikely benign
Select item 984510	NM_003665.4(FCN3):c.232+1G>A	FCN3	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 618089	NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser)	EPB41 (P82S +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GBenign/Likely benign
Select item 215506	NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr)	YARS1 (A339T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 297192	NM_024009.3(GJB3):c.264G>A (p.Ser88=)	GJB3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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