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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 243037	NM_198576.4(AGRN):c.314A>T (p.Asn105Ile)	AGRN, LOC126805576 (N105I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	Gnot provided
Select item 243038	NM_198576.4(AGRN):c.1362dup (p.Ser455fs)	AGRN (S350fs +1 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome	Gnot provided
Select item 208189	NM_001330311.2(DVL1):c.1507+1_1508-1del	DVL1	Deletion (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 156721	Single allele	ATAD3B, ATAD3C +4 more	Deletion	Large for gestational age +1 more	Gnot provided
Select item 156723	NM_001110781.2(SLC35E2B):c.-40384_-148+4347del	CDK11A, LOC121677382 +4 more	Deletion	Large for gestational age	Gnot provided
Select item 156724	NM_182838.2(SLC35E2):c.733-162_*35907del	CDK11A, LOC129929146 +1 more	Deletion	Normal pregnancy	Gnot provided
Select item 1810316	NM_024011.4(CDK11A):c.1927del (p.Ser643fs)	CDK11A (S633fs +3 more)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 995963	NM_002074.5(GNB1):c.727A>G (p.Thr243Ala)	GNB1 (T143A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	Gnot provided
Select item 156725	NC_000001.11:g.2420707_2434877dup	PLCH2	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 156726	NC_000001.11:g.2427505_2438059dup	PLCH2	Duplication	Small for gestational age	Gnot provided
Select item 135349	NM_003820.4(TNFRSF14):c.50A>G (p.Lys17Arg)	TNFRSF14, TNFRSF14-AS1 (K17R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133394	NM_003820.4(TNFRSF14):c.304+545C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133395	NM_003820.4(TNFRSF14):c.304+606C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133396	NM_003820.4(TNFRSF14):c.304+624C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133397	NM_003820.4(TNFRSF14):c.304+642C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133398	NM_003820.4(TNFRSF14):c.305-654A>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133399	NM_003820.4(TNFRSF14):c.305-653T>C	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133400	NM_003820.4(TNFRSF14):c.305-476C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133401	NM_003820.4(TNFRSF14):c.305-462G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133402	NM_003820.4(TNFRSF14):c.305-401G>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133403	NM_003820.4(TNFRSF14):c.305-397T>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133404	NM_003820.4(TNFRSF14):c.305-364C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133405	NM_003820.4(TNFRSF14):c.305-328C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133406	NM_003820.4(TNFRSF14):c.305-320C>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133407	NM_003820.4(TNFRSF14):c.305-308C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133408	NM_003820.4(TNFRSF14):c.305-249C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133409	NM_003820.4(TNFRSF14):c.305-201G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133411	NM_003820.4(TNFRSF14):c.305-191C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133410	NM_003820.4(TNFRSF14):c.305-191C>G	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133412	NM_003820.4(TNFRSF14):c.305-171G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133413	NM_003820.4(TNFRSF14):c.305-98G>A	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133415	NM_003820.4(TNFRSF14):c.305-59_305-57delinsACT	TNFRSF14	Indel (intron variant)	not specified	Gnot provided
Select item 133414	NM_003820.4(TNFRSF14):c.305-57C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135350	NM_003820.4(TNFRSF14):c.348C>T (p.Asn116=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135353	NM_003820.4(TNFRSF14):c.349G>A (p.Ala117Thr)	TNFRSF14 (A117T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135351	NM_003820.4(TNFRSF14):c.405C>T (p.Cys135=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135352	NM_003820.4(TNFRSF14):c.408C>T (p.Ala136=)	TNFRSF14	Single nucleotide variant (synonymous variant)	not specified	Gnot provided
Select item 135354	NM_003820.4(TNFRSF14):c.521G>A (p.Gly174Glu)	TNFRSF14 (G174E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133416	NM_003820.4(TNFRSF14):c.552-165del	TNFRSF14	Deletion (intron variant)	not specified	Gnot provided
Select item 133417	NM_003820.4(TNFRSF14):c.552-140C>T	TNFRSF14	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135355	NM_003820.4(TNFRSF14):c.721G>A (p.Val241Ile)	TNFRSF14 (V241I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135356	NM_003820.4(TNFRSF14):c.785C>T (p.Pro262Leu)	TNFRSF14 (P262L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 135357	NM_003820.4(TNFRSF14):c.797C>T (p.Thr266Met)	TNFRSF14 (T266M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 156727	CM000663.1:g.3411413_3431235dup	LOC108281140, LOC132088707 +1 more	Duplication	Preeclampsia	Gnot provided
Select item 3064063	NM_002631.4(PGD):c.547G>A (p.Val183Met)	PGD (V161M +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 190400	NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	Gnot provided
Select item 21465	NM_007375.4(TARDBP):c.*83T>C	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	Gnot provided
Select item 440977	NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr)	MASP2 (C184Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 972961	NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val)	MTOR (G2464V)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Gnot provided
Select item 918028	NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter)	MTOR (Y2225*)	Duplication (nonsense)	Isolated focal cortical dysplasia type II +1 more	Gnot provided
Select item 376358	NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser)	MTOR (P2213S)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 376357	NM_004958.4(MTOR):c.5902C>T (p.His1968Tyr)	MTOR (H1968Y)	Single nucleotide variant (missense variant)	Melanoma	Gnot provided
Select item 208195	NM_005957.5(MTHFR):c.1611T>A (p.Asn537Lys)	MTHFR (N537K +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Gnot provided
Select item 208194	NM_005957.5(MTHFR):c.1606G>A (p.Val536Ile)	MTHFR (V536I +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Gnot provided
Select item 208196	NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu)	MTHFR (P66L +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Gnot provided
Select item 156729	Single allele	CELA2A	Deletion	Normal pregnancy	Gnot provided
Select item 156730	Single allele	CELA2B, CELA2A	Deletion	Normal pregnancy	Gnot provided
Select item 183259	NM_032409.3(PINK1):c.799C>T (p.Gln267Ter)	PINK1, PINK1-AS (Q267*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 6	Gnot provided
Select item 585026	NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr)	DDOST (F442Y +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	Gnot provided
Select item 585027	NM_005216.4(DDOST):c.20C>G (p.Ala7Gly)	DDOST	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type Ir	Gnot provided
Select item 585137	NM_017449.5(EPHB2):c.595C>T (p.Arg199Cys)	EPHB2 (R199C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156731	Single allele	RHD, RSRP1	Deletion	Gestational diabetes mellitus uncontrolled +1 more	Gnot provided
Select item 634996	NM_016124.4(RHD):c.[410C>T;455A>C509T>C667T>G]	RHD, RSRP1 (F223V +5 more)	Single nucleotide variant (missense variant +2 more)	Partial RhD	Gnot provided
Select item 634995	NM_016124.4(RHD):c.[186G>T;410C>T455A>C667T>G]	RHD, RSRP1 (F223V +4 more)	Single nucleotide variant (missense variant +2 more)	Partial RhD	Gnot provided
Select item 202166	NM_016124.4(RHD):c.[602C>G;667T>G;744C>T;957G>A;1025T>C;1063G>A]	RHD, RSRP1 (G355S +7 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Weak RhD expression	Gnot provided
Select item 208474	NM_016124.4(RHD):c.[602C>G;667T>G;697G>C;733G>C;744C>T;1136C>T]	RHCE, RHD +1 more (A373T +10 more)	Single nucleotide variant (missense variant +2 more)	Weak RhD expression	Gnot provided
Select item 156358	NM_020485.8(RHCE):c.307C>T (p.Pro103Ser)	RHCE (P103S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 156357	NM_020485.8(RHCE):c.178C>A (p.Leu60Ile)	RHCE (L60I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 585048	NM_198137.2(CATSPER4):c.523G>T (p.Glu175Ter)	CATSPER4 (E175*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 1339820	NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr)	ARID1A (M442T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	Gnot provided
Select item 1327497	NM_006015.6(ARID1A):c.1803+1G>C	ARID1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1895433	NM_006015.6(ARID1A):c.2989-3C>G	ARID1A	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1329459	NM_006015.6(ARID1A):c.3539+1G>A	ARID1A, LOC126805670	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1301990	NM_006015.6(ARID1A):c.4101+1G>C	ARID1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1299482	NM_006015.6(ARID1A):c.4101+1G>A	ARID1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 635361	NM_006015.6(ARID1A):c.4101+1G>T	ARID1A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 1329458	NM_006015.6(ARID1A):c.4994-2A>T	ARID1A	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 133554	NM_006015.6(ARID1A):c.5248T>A (p.Phe1750Ile)	ARID1A (F1750I +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133555	NM_006015.6(ARID1A):c.5318T>C (p.Leu1773Pro)	ARID1A (L1773P +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133553	NM_006015.6(ARID1A):c.5791G>C (p.Glu1931Gln)	ARID1A (E1931Q +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 120321	NM_004102.5(FABP3):c.395del (p.Glu132fs)	FABP3 (E132fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 100613	NM_004102.5(FABP3):c.349-14_349-13del	FABP3	Deletion (intron variant)	not provided	Gnot provided
Select item 97088	NM_004102.5(FABP3):c.349-19A>G	FABP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 97087	NM_004102.5(FABP3):c.246+25del	FABP3	Deletion (intron variant)	not provided	Gnot provided
Select item 100612	NM_004102.5(FABP3):c.246+16_246+17del	FABP3	Deletion (intron variant)	not provided	Gnot provided
Select item 156733	Single allele	AGO1	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 1339799	NM_017825.3(ADPRS):c.340_341del (p.Arg114fs)	ADPRS (R114fs)	Deletion (frameshift variant)	ADPRHL2-Related Disorder	Gnot provided
Select item 818172	NM_013285.3(GNL2):c.1391A>G (p.Asn464Ser)	GNL2 (N281S +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2412794	NM_001394062.1(MACF1):c.3943A>G (p.Thr1315Ala)	MACF1 (T1320A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	Gnot provided
Select item 140503	NM_005857.3(ZMPSTE24):c.-1269C>G	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140502	NM_005857.3(ZMPSTE24):c.-1149G>A	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140508	NM_005857.3(ZMPSTE24):c.-954G>C	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140507	NM_005857.3(ZMPSTE24):c.-522C>G	ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140506	NM_005857.3(ZMPSTE24):c.-370G>T	LOC129930252, ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140504	NM_005857.4(ZMPSTE24):c.-194A>G	LOC129930252, ZMPSTE24	Single nucleotide variant	not provided	Gnot provided
Select item 140515	NM_005857.5(ZMPSTE24):c.124-2A>C	ZMPSTE24	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 140521	NM_005857.5(ZMPSTE24):c.207_208del (p.Tyr70fs)	ZMPSTE24 (Y70fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 140522	NM_005857.5(ZMPSTE24):c.209_210del (p.Tyr70fs)	ZMPSTE24 (Y70fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 140523	NM_005857.5(ZMPSTE24):c.281T>C (p.Leu94Pro)	ZMPSTE24 (L94P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 140524	NM_005857.5(ZMPSTE24):c.296del (p.Pro99fs)	ZMPSTE24 (P99fs)	Deletion (frameshift variant)	not provided	Gnot provided

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