C3661900[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 541158	NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser)	AGRN (G883S +1 more)	Single nucleotide variant (missense variant)	AGRN-related condition +1 more	GLikely benign
Select item 655146	NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser)	TNFRSF4 (A158S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 502319	NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)	NPHP4 (A1059T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 863366	NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser)	MTOR (N2292S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1118604	NM_004958.4(MTOR):c.3541G>A (p.Val1181Ile)	MTOR (V1181I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 578290	NM_006172.4(NPPA):c.352C>A (p.Leu118Met)	LOC114827827, NPPA +1 more (L118M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6 +1 more	GLikely benign
Select item 449524	NM_014874.4(MFN2):c.818T>G (p.Val273Gly)	MFN2 (V273G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2280	NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2 (R707W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type 6A +8 more	GPathogenic/Likely pathogenic
Select item 128469	NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)	ATP13A2 (I946F +2 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1076159	NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)	ALPL (G107S +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 13683	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL (A176T +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 more	GPathogenic/Likely pathogenic
Select item 13679	NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	ALPL (N417S +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 434314	NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly)	ARID1A (S90G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 955816	NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val)	SZT2, SZT2-AS1 (G3289V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	B lymphoblastic leukemia lymphoma, no ICD-O subtype +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic/Likely pathogenic
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 246503	NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn)	MUTYH (S298N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41764	NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	MUTYH (R274Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 187628	NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)	MUTYH (V239I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 186056	NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp)	MUTYH (R191W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 185653	NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)	MUTYH (P157L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 286190	NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)	POMGNT1, TSPAN1 (R486Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 92430	NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	CPT2 (K414fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GPathogenic
Select item 8960	NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)	CPT2 (F448L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity; other
Select item 99304	NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	ABCA4 (D1532N +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 456470	NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)	AGL (N797S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35493	NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)	GPSM2 (S554*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 845469	NM_001377458.1(CLCC1):c.1600G>A (p.Ala534Thr)	CLCC1 (A484T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 190328	NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)	KCNA2 (R297Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 39555	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	ADAMTSL4, ADAMTSL4-AS2 (Q256fs)	Deletion	Ectopia lentis et pupillae +3 more	GPathogenic
Select item 2167190	NM_000565.4(IL6R):c.992T>C (p.Met331Thr)	IL6R (M211T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197695	NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)	CHRNB2 (M349T)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 962517	NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)	ASH1L (S1635fs)	Deletion (frameshift variant)	ASH1L-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 66924	NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	LMNA (G232R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 66817	NM_170707.4(LMNA):c.1380+1G>A	LMNA	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 66850	NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	LMNA (T528R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 450841	NM_002529.4(NTRK1):c.2242C>T (p.Arg748Trp)	NTRK1 (R712W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 531677	NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	MPZ (Y145fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I +3 more	GPathogenic/Likely pathogenic
Select item 5739	NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	CRB1 (G1103R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +4 more	GPathogenic
Select item 450252	NM_002838.5(PTPRC):c.2490G>C (p.Leu830Phe)	PTPRC (L830F +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 105 +3 more	GUncertain significance
Select item 294752	NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)	CACNA1S (N649H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 9526	NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser)	CHIT1 (G102S)	Single nucleotide variant (missense variant +2 more)	Chitotriosidase deficiency +1 more	GBenign
Select item 571625	NM_001006658.3(CR2):c.668A>G (p.Asn223Ser)	CR2 (N223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 946072	NM_001006658.3(CR2):c.2018C>G (p.Thr673Arg)	CR2 (T673R)	Single nucleotide variant (intron variant +1 more)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 450159	NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)	FLVCR1 (I386M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 374591	NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)	USH2A (G2295R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 450310	NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)	USH2A (H2045Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 1177513	NM_182972.3(IRF2BP2):c.522G>C (p.Gln174His)	IRF2BP2 (Q174H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418056	NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)	B3GALNT2 (R192H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GConflicting classifications of pathogenicity
Select item 201277	NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	RYR2 (A2387V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 16236	NM_000143.4(FH):c.698G>A (p.Arg233His)	FH (R233H)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 214373	NM_000143.4(FH):c.584T>C (p.Met195Thr)	FH (M195T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 29705	NM_000143.4(FH):c.521C>G (p.Pro174Arg)	FH	Single nucleotide variant (missense variant)	FH-Related Disorders +3 more	GPathogenic/Likely pathogenic
Select item 636649	NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg)	ADAM17 (G374R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1058475	NM_001130009.3(GEN1):c.1623A>G (p.Gln541=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 451341	NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	IFT172, KRTCAP3 (V1556M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	IFT172-related condition +4 more	GConflicting classifications of pathogenicity
Select item 837274	NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)	IFT172, LOC126806173 (R1225Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +6 more	GConflicting classifications of pathogenicity
Select item 404336	NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	ALK (P1599S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 470770	NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)	ALK (G574R)	Single nucleotide variant (missense variant)	ALK-related condition +4 more	GConflicting classifications of pathogenicity
Select item 188179	NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)	SPAST (R431* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4 +2 more	GPathogenic
Select item 568754	NM_020458.4(TTC7A):c.563G>A (p.Arg188His)	LOC126806211, TTC7A (R154H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 573397	NM_020458.4(TTC7A):c.1447G>A (p.Gly483Arg)	TTC7A (G449R +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias +1 more	GConflicting classifications of pathogenicity
Select item 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 134846	NM_000251.3(MSH2):c.220A>C (p.Asn74His)	MSH2 (N74H +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 182583	NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)	MSH2 (A189G +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 91273	NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	MSH2 (C333Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 90628	NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)	MSH2 (T441P +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 161299	NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	MSH2 (E643K +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 90955	NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)	MSH2 (I770V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 216354	NM_000251.3(MSH2):c.2379G>T (p.Gln793His)	MSH2 (Q793H +1 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 630667	NM_000179.3(MSH6):c.-6G>A	MSH6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 142305	NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)	MSH6 (D217G +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 89178	NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)	MSH6 (Y267fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89191	NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)	MSH6 (R468C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 231340	NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys)	MSH6 (Y469C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 89200	NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)	MSH6 (Q522R +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 234464	NM_000179.3(MSH6):c.1645del (p.Ser549fs)	MSH6 (S247fs +2 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic
Select item 183739	NM_000179.3(MSH6):c.2230dup (p.Glu744fs)	MSH6 (E442fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic/Likely pathogenic
Select item 479965	NM_000179.3(MSH6):c.2337T>G (p.Cys779Trp)	MSH6 (C779W +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 89390	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 234462	NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)	MSH6 (L1150F +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +4 more	GUncertain significance
Select item 89458	NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)	MSH6 (Y1256* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 410530	NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)	MSH6	Duplication (inframe_insertion)	not specified +4 more	GUncertain significance
Select item 89488	NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	MSH6 (A1190fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 483854	NM_000179.3(MSH6):c.3989T>G (p.Leu1330Arg)	MSH6 (L1330R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 1351927	NM_001365480.1(CCDC88A):c.2603C>T (p.Thr868Ile)	CCDC88A (T868I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500004	NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)	DYSF (P233L +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +2 more	GConflicting classifications of pathogenicity
Select item 288008	NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)	DYSF (A783V +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +1 more	GConflicting classifications of pathogenicity
Select item 196022	NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)	DYSF (M968L +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +6 more	GConflicting classifications of pathogenicity
Select item 536148	NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met)	DCTN1 (T692M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 843850	NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)	DCTN1 (R482C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 397511	NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	LOC129934333, TMEM127 (I41fs)	Deletion (frameshift variant)	Pheochromocytoma +3 more	GPathogenic
Select item 337637	NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)	ZAP70 (M549V +1 more)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +4 more	GUncertain significance
Select item 1399147	NM_145199.3(LIPT1):c.587C>T (p.Pro196Leu)	LIPT1, MITD1 (P196L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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