CN169374[trait identifier] AND "Genomic Diagnostic Laboratory, Divisio - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252808	NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)	AGRN (E1547K +1 more)	Single nucleotide variant (missense variant)	AGRN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 218832	NM_001170687.4(MIB2):c.-151C>A	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 218470	NM_000815.5(GABRD):c.668C>T (p.Thr223Met)	GABRD (T223M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 218791	NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val)	PRDM16 (A916V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 218544	NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)	KCNAB2 (I347V +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252694	NM_015215.4(CAMTA1):c.1994G>A (p.Arg665Gln)	CAMTA1 (R665Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252710	NM_001377275.1(PER3):c.470G>A (p.Arg157His)	PER3 (R157H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 252590	NM_001561.6(TNFRSF9):c.166G>A (p.Ala56Thr)	TNFRSF9 (A56T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 252642	NM_005026.5(PIK3CD):c.1690-6C>T	PIK3CD	Single nucleotide variant (intron variant)	Immunodeficiency 14 +1 more	GLikely benign
Select item 260541	NM_001365951.3(KIF1B):c.184-6_184-5del	KIF1B	Deletion (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
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 5210	NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	MASP2 (D120G)	Single nucleotide variant (missense variant)	MASP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 252640	NM_004958.4(MTOR):c.2885A>G (p.Gln962Arg)	MTOR (Q962R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252571	NM_001243.5(TNFRSF8):c.1043C>T (p.Thr348Ile)	TNFRSF8 (T348I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 252687	NM_015001.3(SPEN):c.9735_9736insCCCCCCCCC (p.Pro3245_Thr3246insProProPro)	SPEN	Insertion (inframe_insertion)	not specified	GUncertain significance
Select item 218750	NM_001405666.3(NBPF1):c.3853C>T (p.Leu1285Phe)	NBPF1 (L1040F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218749	NM_017940.8(NBPF1):c.2666+2T>C	NBPF1	Single nucleotide variant (splice donor variant +1 more)	not specified	GUncertain significance
Select item 218748	NM_001405666.3(NBPF1):c.1905-6C>A	NBPF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 218674	NM_005529.7(HSPG2):c.7722A>C (p.Leu2574Phe)	HSPG2 (L2574F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 218429	NM_000147.5(FUCA1):c.525-19TTCTGTTT[3]	FUCA1	Microsatellite (intron variant)	Fucosidosis +1 more	GConflicting classifications of pathogenicity
Select item 218865	NM_001199013.2(STPG1):c.738-3145C>T	GRHL3, STPG1 (E566K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 218682	NM_006314.3(CNKSR1):c.332T>A (p.Val111Asp)	CNKSR1 (V111D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 252663	NM_006314.3(CNKSR1):c.851del (p.Pro284fs)	CNKSR1 (P26fs +2 more)	Deletion (frameshift variant)	not specified +2 more	GBenign
Select item 218485	NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr)	AHDC1 (A1001T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252789	NM_153212.3(GJB4):c.507C>G (p.Cys169Trp)	GJB4 (C169W)	Single nucleotide variant (missense variant)	GJB4-related condition +2 more	GBenign
Select item 252498	NM_000831.4(GRIK3):c.1268G>A (p.Arg423Gln)	GRIK3 (R423Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252743	NM_024700.4(SNIP1):c.1158T>G (p.Asp386Glu)	SNIP1 (D386E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 218716	NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val)	SZT2 (A1725V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252550	NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)	PTCH2 (H622N)	Single nucleotide variant (missense variant)	PTCH2-related condition +3 more	GBenign/Likely benign
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 134859	NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	MUTYH (V329M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +4 more	GPathogenic/Likely pathogenic
Select item 132760	NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 252797	NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln)	PCSK9 (R495Q +6 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 242027	NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)	PCSK9 (H553R +7 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 218580	NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)	DOCK7 (K487R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 30422	NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	ALG6 (Y131H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 252555	NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)	PGM1 (S369R +2 more)	Single nucleotide variant (missense variant)	PGM1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 218655	NM_004815.4(ARHGAP29):c.3181G>A (p.Ala1061Thr)	ARHGAP29 (A1061T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218656	NM_004815.4(ARHGAP29):c.358G>T (p.Val120Phe)	ARHGAP29 (V120F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218828	NM_001854.4(COL11A1):c.652-6del	COL11A1	Deletion (intron variant)	not provided +6 more	GBenign
Select item 252607	NM_002557.4(OVGP1):c.1599_1600insACTGGACAGAAGACCCTGACC (p.Thr533_Pro534insThrGlyGlnLysThrLeuThr)	OVGP1	Insertion (inframe_insertion)	not specified	GBenign
Select item 252739	NM_024494.3(WNT2B):c.313C>T (p.Arg105Ter)	WNT2B (R105* +2 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 218728	NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn)	AP4B1-AS1, PTPN22 (K750N +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 218686	NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)	AP4B1-AS1, AP4B1 (T256I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +5 more	GLikely benign
Select item 134987	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	NOTCH2 (L2408H)	Single nucleotide variant (missense variant)	NOTCH2-related condition +5 more	GBenign/Likely benign
Select item 134975	NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)	NOTCH2 (L1413H)	Single nucleotide variant (missense variant)	NOTCH2-related condition +3 more	GBenign/Likely benign
Select item 218795	NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs)	NOTCH2 (P6fs)	Deletion (frameshift variant)	not specified	GBenign/Likely benign
Select item 218796	NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser)	NOTCH2 (A3S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 218733	NM_016361.5(ACP6):c.652C>T (p.Arg218Trp)	ACP6 (R218W)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 218697	NM_007259.5(VPS45):c.1664G>C (p.Arg555Pro)	VPS45 (R555P +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GUncertain significance
Select item 252645	NM_005060.4(RORC):c.1477G>A (p.Val493Met)	RORC (V493M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +1 more	GUncertain significance
Select item 218687	NM_006617.2(NES):c.1825G>C (p.Glu609Gln)	NES (E609Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 129316	NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)	KCNJ10 (R18Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 41773	NM_003001.5(SDHC):c.*84G>C	SDHC (E144Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 252576	NM_001375883.1(GPR161):c.-45+395dup	GPR161 (G19fs)	Duplication (5 prime UTR variant +2 more)	not specified	GBenign
Select item 252767	NM_033343.4(LHX4):c.365G>A (p.Arg122Gln)	LHX4 (R122Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 252587	NM_001385161.1(MR1):c.380G>A (p.Ser127Asn)	MR1 (S127N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 252566	NM_030769.3(NPL):c.598G>A (p.Val200Met)	NPL (V181M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 195603	NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met)	LAMC2 (T1069M)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +2 more	GBenign/Likely benign
Select item 199685	NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys)	CACNA1S (R683C)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +6 more	GBenign
Select item 252729	NM_001389617.1(NAV1):c.3702del (p.Leu1235fs)	IPO9-AS1, NAV1 (L557fs +2 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 252503	NM_001006658.3(CR2):c.3033G>C (p.Gln1011His)	CR2 (Q1011H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +3 more	GConflicting classifications of pathogenicity
Select item 218484	NM_000228.3(LAMB3):c.1792C>T (p.Arg598Cys)	LAMB3 (R598C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 179542	NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)	USH2A (G2726E)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48547	NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	USH2A (Y1992C)	Single nucleotide variant (missense variant)	USH2A-related condition +4 more	GConflicting classifications of pathogenicity
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 252717	NM_018060.4(IARS2):c.951G>A (p.Lys317=)	IARS2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 211989	NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)	RAB3GAP2 (I1354V)	Single nucleotide variant (missense variant)	RAB3GAP2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 218820	NM_001377229.1(DISP1):c.4193G>A (p.Ser1398Asn)	DISP1 (S1398N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252619	NM_003268.6(TLR5):c.2537A>G (p.Asp846Gly)	TLR5 (D846G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 252618	NM_003268.6(TLR5):c.1930A>T (p.Ile644Phe)	TLR5 (I644F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 252617	NM_003268.6(TLR5):c.1459C>A (p.Leu487Ile)	TLR5 (L487I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 218605	NM_002296.4(LBR):c.866G>A (p.Gly289Glu)	LBR (G289E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 218604	NM_002296.4(LBR):c.367-5T>C	LBR	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 218481	NM_018212.6(ENAH):c.435-5del	ENAH	Deletion (intron variant)	not specified	GBenign
Select item 3645	NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 252583	NM_001386125.1(OBSCN):c.2039C>T (p.Ala680Val)	OBSCN (A680V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 252582	NM_001386125.1(OBSCN):c.11282G>A (p.Arg3761His)	OBSCN (R3761H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 218612	NM_002508.3(NID1):c.2550G>C (p.Gln850His)	NID1 (Q850H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 201209	NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	RYR2 (V382M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 36746	NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)	RYR2 (G1885E)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 43840	NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)	RYR2 (K3187R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 43698	NM_001035.3(RYR2):c.10324-4A>G	RYR2	Single nucleotide variant (intron variant)	RYR2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 420230	NM_001035.3(RYR2):c.13476+8_13476+11dup	RYR2	Duplication (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 218487	NM_001035.3(RYR2):c.13564-41A>G	RYR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 252726	NM_020066.5(FMN2):c.1481C>G (p.Pro494Arg)	FMN2 (P494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218763	NM_020066.5(FMN2):c.1966C>T (p.Arg656Cys)	FMN2 (R660C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218764	NM_020066.5(FMN2):c.2828C>T (p.Pro943Leu)	FMN2 (P947L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218765	NM_020066.5(FMN2):c.2840C>T (p.Pro947Leu)	FMN2 (P951L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 218766	NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro)	FMN2 (L970P +1 more)	Single nucleotide variant (missense variant +1 more)	FMN2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 218767	NM_020066.5(FMN2):c.3413C>T (p.Ala1138Val)	FMN2 (A1142V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 218813	NM_031844.3(HNRNPU):c.607G>A (p.Ala203Thr)	HNRNPU (A203T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GUncertain significance
Select item 218548	NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +7 more	GBenign/Likely benign
Select item 252491	NM_001206744.2(TPO):c.1472G>A (p.Arg491His)	TPO (R491H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 218726	NM_015909.4(NBAS):c.4822A>G (p.Met1608Val)	NBAS (M1608V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 128419	NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)	APOB (A4481T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity

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