CN169374[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210112	NM_198576.4(AGRN):c.67G>C (p.Val23Leu)	AGRN (V23L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128296	NM_198576.4(AGRN):c.261C>T (p.Asp87=)	LOC126805576, AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
Select item 263202	NM_198576.4(AGRN):c.729C>G (p.Gly243=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 128320	NM_198576.4(AGRN):c.804C>T (p.Ala268=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 128291	NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg)	AGRN (Q353R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign
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 263162	NM_198576.4(AGRN):c.1434G>A (p.Thr478=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 263163	NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser)	AGRN (G510S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 446814	NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)	AGRN (R524W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 128294	NM_198576.4(AGRN):c.2183A>T (p.Glu728Val)	AGRN (E728V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 541210	NM_198576.4(AGRN):c.2277G>A (p.Pro759=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 235570	NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)	AGRN (A897V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 128298	NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe)	AGRN (L1088F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 128300	NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +2 more	GBenign/Likely benign
Select item 392687	NM_198576.4(AGRN):c.4131C>T (p.Phe1377=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 263183	NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys)	AGRN (R1429C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +1 more	GBenign/Likely benign
Select item 263185	NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)	AGRN (P1451L +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)	not specified +1 more	GBenign
Select item 263189	NM_198576.4(AGRN):c.4839C>T (p.Cys1613=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 263193	NM_198576.4(AGRN):c.4977-10A>G	AGRN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 263194	NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 128313	NM_198576.4(AGRN):c.5070C>T (p.Phe1690=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 128316	NM_198576.4(AGRN):c.5598C>T (p.Thr1866=)	AGRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 256823	NM_000815.5(GABRD):c.330T>C (p.Gly110=)	GABRD	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 10 +3 more	GBenign
Select item 447367	NM_000815.5(GABRD):c.470+6C>T	GABRD	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 447368	NM_000815.5(GABRD):c.596G>A (p.Ser199Asn)	GABRD (S199N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 447366	NM_000815.5(GABRD):c.1166G>C (p.Gly389Ala)	GABRD (G389A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 226635	NM_031475.3(ESPN):c.2070G>A (p.Ser690=)	ESPN	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 36 +3 more	GBenign/Likely benign
Select item 298117	NM_007262.5(PARK7):c.-22C>T	PARK7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 298121	NM_007262.5(PARK7):c.234C>T (p.Gly78=)	PARK7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 465831	NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)	PARK7 (R98Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 779071	NM_007262.5(PARK7):c.410-9A>G	PARK7	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GLikely 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 291740	NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)	TARDBP	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 214639	NM_014874.4(MFN2):c.159C>T (p.Ser53=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +4 more	GBenign/Likely benign
Select item 408320	NM_014874.4(MFN2):c.187A>C (p.Asn63His)	MFN2 (N63H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 447722	NM_014874.4(MFN2):c.236A>G (p.Lys79Arg)	MFN2 (K79R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 447723	NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)	MFN2 (K98E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 585713	NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)	MFN2 (S156I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 447724	NM_014874.4(MFN2):c.608T>C (p.Ile203Thr)	MFN2 (I203T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 240947	NM_014874.4(MFN2):c.657T>G (p.Asp219Glu)	MFN2 (D219E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 378134	NM_014874.4(MFN2):c.663T>C (p.Asp221=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 138211	NM_014874.4(MFN2):c.744C>T (p.Leu248=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +4 more	GBenign
Select item 214653	NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)	MFN2 (R250Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 214642	NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)	MFN2 (C281S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +6 more	GConflicting classifications of pathogenicity
Select item 390686	NM_014874.4(MFN2):c.870C>T (p.Gly290=)	MFN2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 292373	NM_014874.4(MFN2):c.891C>T (p.Ala297=)	MFN2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 138212	NM_014874.4(MFN2):c.957C>T (p.Gly319=)	MFN2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1256238	NM_014874.4(MFN2):c.975C>G (p.Gly325=)	MFN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 447715	NM_014874.4(MFN2):c.1128G>A (p.Met376Ile)	MFN2 (M376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 447716	NM_014874.4(MFN2):c.1162G>A (p.Val388Ile)	MFN2 (V388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 194091	NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)	MFN2 (M393I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 447717	NM_014874.4(MFN2):c.1202T>G (p.Leu401Arg)	MFN2 (L401R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 447718	NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys)	MFN2 (R440C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2282	NM_014874.4(MFN2):c.1403G>A (p.Arg468His)	MFN2 (R468H)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 447719	NM_014874.4(MFN2):c.1427G>C (p.Arg476Pro)	MFN2 (R476P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 194409	NM_014874.4(MFN2):c.1452G>A (p.Thr484=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +5 more	GBenign/Likely benign
Select item 215515	NM_014874.4(MFN2):c.1495+9C>T	MFN2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 214636	NM_014874.4(MFN2):c.1827C>T (p.Ser609=)	MFN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 219952	NM_014874.4(MFN2):c.1920C>G (p.Leu640=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +4 more	GConflicting classifications of pathogenicity
Select item 447720	NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu)	MFN2 (R663L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 138217	NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)	MFN2 (V705I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +7 more	GBenign/Likely benign
Select item 2269	NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	MFN2 (W740S)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GPathogenic/Likely pathogenic
Select item 447721	NM_014874.4(MFN2):c.2227A>C (p.Ser743Arg)	MFN2 (S743R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585697	NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)	CLCNKA, LOC106501712 (R83G)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 4B +2 more	GBenign
Select item 447088	NM_004070.4(CLCNKA):c.486C>T (p.Phe162=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 447089	NM_004070.4(CLCNKA):c.868G>T (p.Gly290Cys)	CLCNKA, LOC106501712 (G290C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 447079	NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 447080	NM_004070.4(CLCNKA):c.1086C>T (p.Phe362=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 447081	NM_004070.4(CLCNKA):c.1161T>G (p.Leu387=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 447082	NM_004070.4(CLCNKA):c.1177C>T (p.His393Tyr)	CLCNKA, LOC106501712 (H393Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 447083	NM_004070.4(CLCNKA):c.1227+10del	CLCNKA, LOC106501712	Deletion (intron variant)	not specified	GBenign
Select item 447084	NM_004070.4(CLCNKA):c.1436C>T (p.Thr479Ile)	CLCNKA, LOC106501712 (T479I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 447085	NM_004070.4(CLCNKA):c.1500C>T (p.Pro500=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 447086	NM_004070.4(CLCNKA):c.1939C>T (p.Leu647Phe)	CLCNKA, LOC106501712 (L647F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 447087	NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 786451	NM_000085.5(CLCNKB):c.12T>G (p.Phe4Leu)	CLCNKB (F4L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 447107	NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu)	CLCNKB (R27L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 447101	NM_000085.5(CLCNKB):c.230C>A (p.Ala77Glu)	CLCNKB, LOC106501713 (A77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 447102	NM_000085.5(CLCNKB):c.258G>A (p.Gly86=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 447103	NM_000085.5(CLCNKB):c.262A>C (p.Ser88Arg)	CLCNKB, LOC106501713 (S88R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 447104	NM_000085.5(CLCNKB):c.324A>G (p.Ser108=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 447105	NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 381050	NM_000085.5(CLCNKB):c.577-5C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 786452	NM_000085.5(CLCNKB):c.823G>A (p.Val275Ile)	CLCNKB, LOC106501713 (V106I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 447108	NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val)	CLCNKB, LOC106501713 (A287V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 377683	NM_000085.5(CLCNKB):c.876T>C (p.Cys292=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 4B +3 more	GBenign
Select item 447090	NM_000085.5(CLCNKB):c.1297+5G>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 447091	NM_000085.5(CLCNKB):c.1409-6T>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 585702	NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser)	CLCNKB, LOC106501713 (T481S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 585703	NM_000085.5(CLCNKB):c.1455G>A (p.Ala485=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 447092	NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val)	CLCNKB, LOC106501713 (A504V +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GUncertain significance
Select item 786453	NM_000085.5(CLCNKB):c.1527C>T (p.Asn509=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 447093	NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His)	CLCNKB, LOC106501713 (R544H +1 more)	Indel (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 447094	NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr)	CLCNKB, LOC106501713 (M562T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 447096	NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu)	CLCNKB, LOC106501713 (K578E +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GBenign
Select item 447097	NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 402541	NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr)	CLCNKB, LOC106501713 (C626Y +1 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant +2 more	GBenign/Likely benign

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