CN169374[trait identifier] AND "Eurofins Ntd Llc (ga)"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263158	NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)	AGRN (A375S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 434107	NM_198576.4(AGRN):c.2805+7G>A	AGRN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 501491	NM_198576.4(AGRN):c.6074A>G (p.His2025Arg)	AGRN (H2025R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 193478	NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)	B3GALT6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 281204	NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)	B3GALT6 (E174D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 193477	NM_080605.4(B3GALT6):c.909G>A (p.Glu303=)	B3GALT6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 593226	NM_001114748.2(TMEM240):c.453C>T (p.Ala151=)	TMEM240	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 139112	NM_003036.4(SKI):c.99C>G (p.Gly33=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 193249	NM_003036.4(SKI):c.216C>T (p.Pro72=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193248	NM_003036.4(SKI):c.798C>T (p.Ala266=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GConflicting classifications of pathogenicity
Select item 289941	NM_003036.4(SKI):c.970-7A>G	SKI	Single nucleotide variant (intron variant)	Shprintzen-Goldberg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 392009	NM_003036.4(SKI):c.1254C>T (p.Asn418=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 139114	NM_003036.4(SKI):c.1311C>T (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 497316	NM_003036.4(SKI):c.1440G>A (p.Ser480=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 139115	NM_003036.4(SKI):c.1446G>A (p.Ala482=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 139116	NM_003036.4(SKI):c.1834C>T (p.Leu612=)	SKI	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 198156	NM_003036.4(SKI):c.1851G>A (p.Glu617=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 198155	NM_003036.4(SKI):c.1890C>T (p.Ala630=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 139117	NM_003036.4(SKI):c.1974C>T (p.Arg658=)	SKI	Single nucleotide variant (synonymous variant)	not provided +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 498837	NM_002617.4(PEX10):c.627G>A (p.Glu209=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 196588	NM_002617.4(PEX10):c.495C>T (p.Phe165=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GBenign/Likely benign
Select item 262788	NM_002617.4(PEX10):c.194-5C>T	PEX10	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 284321	NM_002617.4(PEX10):c.6C>G (p.Ala2=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GBenign/Likely benign
Select item 95686	NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)	NPHP4 (F1393L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 215887	NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 499260	NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu)	NPHP4 (P1328L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196138	NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)	NPHP4 (H1304R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 95685	NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)	NPHP4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 167370	NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287096	NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 4 +4 more	GBenign/Likely benign
Select item 196032	NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)	NPHP4 (T1225M +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +5 more	GBenign/Likely benign
Select item 188389	NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)	NPHP4 (R1192W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GLikely benign
Select item 95683	NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 4 +4 more	GBenign
Select item 195828	NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)	NPHP4 (P1152S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95682	NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	NPHP4 (A1110V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 95681	NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 167372	NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)	NPHP4 (V1061I +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 595216	NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 4 +3 more	GConflicting classifications of pathogenicity
Select item 288722	NM_015102.5(NPHP4):c.3168C>T (p.His1056=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 499126	NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GBenign/Likely benign
Select item 593682	NM_015102.5(NPHP4):c.3045-5C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GBenign/Likely benign
Select item 195613	NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 4 +3 more	GBenign/Likely benign
Select item 594595	NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 289035	NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met)	NPHP4 (T980M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 195610	NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)	NPHP4 (S972G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 167373	NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	NPHP4 (R961H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +6 more	GConflicting classifications of pathogenicity
Select item 167374	NM_015102.5(NPHP4):c.2868C>T (p.Ala956=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +3 more	GBenign
Select item 260551	NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 167375	NM_015102.5(NPHP4):c.2818-2=	NPHP4	Single nucleotide variant (splice acceptor variant)	Nephronophthisis +2 more	GBenign
Select item 260550	NM_015102.5(NPHP4):c.2812G>A (p.Val938Met)	NPHP4 (V938M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 240968	NM_015102.5(NPHP4):c.2808G>A (p.Thr936=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 95679	NM_015102.5(NPHP4):c.2802C>T (p.Arg934=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 4 +4 more	GBenign
Select item 95678	NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 502685	NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys)	NPHP4 (R906C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GBenign/Likely benign
Select item 95677	NM_015102.5(NPHP4):c.2643G>A (p.Ala881=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 4 +4 more	GBenign
Select item 297804	NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)	NPHP4 (D853Y +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GConflicting classifications of pathogenicity
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 289888	NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)	NPHP4 (S840N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 287002	NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp)	NPHP4 (R820W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 95674	NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)	NPHP4 (V765I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 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)	Nephronophthisis 4 +5 more	GConflicting classifications of pathogenicity
Select item 499988	NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu)	NPHP4 (R674L +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 194659	NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)	NPHP4 (D656N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +4 more	GBenign
Select item 95673	NM_015102.5(NPHP4):c.1926G>A (p.Glu642=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 501365	NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val)	NPHP4 (A617V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 194411	NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 282763	NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)	NPHP4 (P541L +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +4 more	GBenign/Likely benign
Select item 95672	NM_015102.5(NPHP4):c.1611+9C>T	NPHP4	Single nucleotide variant (intron variant)	Senior-Loken syndrome 4 +5 more	GBenign
Select item 284999	NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)	NPHP4 (P482L)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 166893	NM_015102.5(NPHP4):c.1442-7C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +5 more	GBenign/Likely benign
Select item 95671	NM_015102.5(NPHP4):c.1441+13A>G	NPHP4	Single nucleotide variant (intron variant)	Senior-Loken syndrome 4 +4 more	GBenign
Select item 297823	NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)	NPHP4 (E399G)	Single nucleotide variant (5 prime UTR variant +2 more)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 199135	NM_015102.5(NPHP4):c.1089G>T (p.Val363=)	NPHP4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 281181	NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)	NPHP4 (R342C)	Single nucleotide variant (5 prime UTR variant +2 more)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 500336	NM_015102.5(NPHP4):c.944C>T (p.Thr315Met)	NPHP4 (T315M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 95687	NM_015102.5(NPHP4):c.453-27G>A	NPHP4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 496855	NM_015102.5(NPHP4):c.279+47T>G	NPHP4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 595012	NM_015102.5(NPHP4):c.96G>T (p.Gln32His)	NPHP4 (Q32H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +3 more	GUncertain significance
Select item 287488	NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg)	PLEKHG5 (G943R +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 235230	NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)	PLEKHG5 (Q865R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 287487	NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His)	PLEKHG5 (R859H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 285567	NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser)	PLEKHG5 (G810S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 291269	NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 285568	NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 194979	NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)	PLEKHG5 (E723del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided +4 more	GBenign/Likely benign
Select item 194977	NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)	PLEKHG5	Microsatellite (inframe_deletion +1 more)	not specified +3 more	GBenign
Select item 194978	NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 284506	NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 194881	NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease recessive intermediate C +3 more	GBenign
Select item 194553	NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val)	PLEKHG5 (A539V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +4 more	GUncertain significance
Select item 281726	NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)	PLEKHG5	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 382227	NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 291065	NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)	PLEKHG5	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +4 more	GConflicting classifications of pathogenicity
Select item 198895	NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser)	PLEKHG5 (T238S +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GBenign
Select item 198896	NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser)	PLEKHG5 (G231S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 198580	NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)	PLEKHG5 (R173Q +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more	GUncertain significance
Select item 246065	NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)	PLEKHG5 (M161T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 284648	NM_020631.6(PLEKHG5):c.440-10C>T	PLEKHG5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign

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