ClinVar for MedGen (Select 934610) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377566	NM_001348768.2(HECW2):c.4017-2A>G	HECW2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 3377543	NM_001348768.2(HECW2):c.1685A>G (p.Gln562Arg)	HECW2 (Q206R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 3234868	NM_001348768.2(HECW2):c.2792T>A (p.Phe931Tyr)	HECW2 (F575Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 3067112	NM_001195144.2(ANKRD44):c.1317-1308T>C	ANKRD44	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 2683838	NM_001348768.2(HECW2):c.1016T>C (p.Leu339Pro)	HECW2 (L339P)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2672189	NM_001348768.2(HECW2):c.3371C>A (p.Pro1124Gln)	HECW2 (P1124Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2663949	NM_001348768.2(HECW2):c.2024C>G (p.Ser675Cys)	HECW2 (S319C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2637969	NM_001348768.2(HECW2):c.2416G>A (p.Asp806Asn)	HECW2 (D450N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	Gnot provided
Select item 2585550	NM_001348768.2(HECW2):c.358C>A (p.Gln120Lys)	HECW2 (Q120K)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2585516	NM_001348768.2(HECW2):c.1532A>G (p.Asn511Ser)	HECW2 (N155S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2582635	NM_001348768.2(HECW2):c.4016+1G>A	HECW2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2506959	NM_001348768.2(HECW2):c.1648G>C (p.Gly550Arg)	HECW2 (G194R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely benign
Select item 2441886	NM_001348768.2(HECW2):c.811C>T (p.Arg271Cys)	HECW2 (R271C)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 2432408	NM_001348768.2(HECW2):c.1511C>A (p.Ser504Tyr)	HECW2 (S148Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432407	NM_001348768.2(HECW2):c.3556C>T (p.Pro1186Ser)	HECW2 (P1186S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432406	NM_001348768.2(HECW2):c.201G>C (p.Glu67Asp)	HECW2 (E67D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432405	NM_001348768.2(HECW2):c.860G>C (p.Arg287Thr)	HECW2 (R287T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432404	NM_001348768.2(HECW2):c.643C>T (p.Pro215Ser)	HECW2 (P215S)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432403	NM_001348768.2(HECW2):c.3288A>T (p.Glu1096Asp)	HECW2 (E1096D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432402	NM_001348768.2(HECW2):c.2294G>A (p.Gly765Asp)	HECW2 (G409D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432401	NM_001348768.2(HECW2):c.1793C>T (p.Thr598Ile)	HECW2 (T242I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432400	NM_001348768.2(HECW2):c.1655G>A (p.Gly552Asp)	HECW2 (G196D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432399	NM_001348768.2(HECW2):c.2824C>T (p.Arg942Cys)	HECW2 (R586C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432398	NM_001348768.2(HECW2):c.2311A>G (p.Thr771Ala)	HECW2 (T415A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432397	NM_001348768.2(HECW2):c.983A>C (p.Glu328Ala)	HECW2 (E328A)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2432396	NM_001348768.2(HECW2):c.3083C>T (p.Ala1028Val)	HECW2 (A1028V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2431851	NM_001348768.2(HECW2):c.2990A>G (p.His997Arg)	HECW2 (H641R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 2348946	NM_001348768.2(HECW2):c.872G>A (p.Arg291Gln)	HECW2 (R291Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2318091	NM_001348768.2(HECW2):c.4280G>A (p.Arg1427His)	HECW2 (R1427H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2231315	NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)	HECW2 (R695Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +2 more	GConflicting classifications of pathogenicity
Select item 1810306	NM_001348768.2(HECW2):c.1451A>T (p.Glu484Val)	HECW2 (E128V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	Gnot provided
Select item 1806332	NM_001348768.2(HECW2):c.1462C>G (p.Leu488Val)	HECW2 (L132V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1806331	NM_001348768.2(HECW2):c.1772G>A (p.Ser591Asn)	HECW2 (S235N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1806307	NM_001348768.2(HECW2):c.3454C>G (p.Pro1152Ala)	HECW2 (P1152A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1806177	NM_001348768.2(HECW2):c.3998A>G (p.Tyr1333Cys)	HECW2 (Y1333C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1806141	NM_001348768.2(HECW2):c.3355C>T (p.Arg1119Ter)	HECW2 (R1119* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GUncertain significance
Select item 1806140	NM_001348768.2(HECW2):c.4510T>G (p.Ser1504Ala)	HECW2 (S1148A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1805473	NM_001348768.2(HECW2):c.1979G>A (p.Cys660Tyr)	HECW2 (C304Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1804948	NM_001348768.2(HECW2):c.82C>T (p.Leu28Phe)	HECW2 (L28F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely benign
Select item 1707598	NM_001348768.2(HECW2):c.2059G>A (p.Glu687Lys)	HECW2 (E331K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1696641	NM_001348768.2(HECW2):c.-35-72257T>G	HECW2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1335434	NM_001348768.2(HECW2):c.2242G>C (p.Ala748Pro)	HECW2 (A392P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GUncertain significance
Select item 1327493	NM_001348768.2(HECW2):c.736C>T (p.Arg246Ter)	HECW2 (R246*)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GPathogenic
Select item 1320205	NM_001348768.2(HECW2):c.4343T>C (p.Leu1448Ser)	HECW2 (L1092S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1285335	NM_001348768.2(HECW2):c.1293G>A (p.Pro431=)	HECW2	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GBenign
Select item 1285334	NM_001348768.2(HECW2):c.2814+29G>A	HECW2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GBenign
Select item 1285333	NM_001348768.2(HECW2):c.2814+37G>A	HECW2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GBenign
Select item 1285332	NM_001348768.2(HECW2):c.3444G>A (p.Ser1148=)	HECW2	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GBenign
Select item 1285331	NM_001348768.2(HECW2):c.*37G>T	HECW2	Single nucleotide variant (3 prime UTR variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GBenign
Select item 1283158	NM_001348768.2(HECW2):c.2435-7C>T	HECW2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262450	NM_001348768.2(HECW2):c.400+15G>A	HECW2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184304	NM_001348768.2(HECW2):c.473C>T (p.Thr158Ile)	HECW2 (T158I)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1098596	NM_001348768.2(HECW2):c.4642C>T (p.Pro1548Ser)	HECW2 (P1192S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GConflicting classifications of pathogenicity
Select item 1032100	NM_001348768.2(HECW2):c.2896C>T (p.Arg966Cys)	HECW2 (R610C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1032099	NM_001348768.2(HECW2):c.1892G>A (p.Arg631Lys)	HECW2 (R275K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1032098	NM_001348768.2(HECW2):c.1093C>G (p.Gln365Glu)	HECW2 (Q9E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1028188	NM_001348768.2(HECW2):c.4706T>C (p.Phe1569Ser)	HECW2 (F1213S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1028187	NM_001348768.2(HECW2):c.2846G>C (p.Cys949Ser)	HECW2 (C593S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1028186	NM_001348768.2(HECW2):c.2261C>T (p.Pro754Leu)	HECW2 (P398L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1028185	NM_001348768.2(HECW2):c.1967T>C (p.Val656Ala)	HECW2 (V656A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1028184	NM_001348768.2(HECW2):c.1855C>G (p.Pro619Ala)	HECW2 (P263A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1028183	NM_001348768.2(HECW2):c.1166G>A (p.Ser389Asn)	HECW2 (S33N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1027616	NM_001348768.2(HECW2):c.4507A>G (p.Thr1503Ala)	HECW2 (T1147A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1027615	NM_001348768.2(HECW2):c.4355G>T (p.Gly1452Val)	HECW2 (G1096V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1027614	NM_001348768.2(HECW2):c.4333G>C (p.Glu1445Gln)	HECW2 (E1089Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GPathogenic
Select item 1027613	NM_001348768.2(HECW2):c.4323T>G (p.Phe1441Leu)	HECW2 (F1085L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1027612	NM_001348768.2(HECW2):c.3597C>A (p.Asn1199Lys)	HECW2 (N1199K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1027611	NM_001348768.2(HECW2):c.3175C>T (p.Pro1059Ser)	HECW2 (P1059S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1027610	NM_001348768.2(HECW2):c.2818G>A (p.Ala940Thr)	HECW2 (A584T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GUncertain significance
Select item 1027609	NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His)	HECW2 (Y507H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GLikely pathogenic
Select item 1027608	NM_001348768.2(HECW2):c.951G>T (p.Gln317His)	HECW2 (Q317H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 1027607	NM_001348768.2(HECW2):c.412A>G (p.Ile138Val)	HECW2 (I138V)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 1012237	NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr)	HECW2 (R1088T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 984978	NM_001348768.2(HECW2):c.3587A>G (p.Lys1196Arg)	HECW2 (K1196R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GPathogenic
Select item 984977	NM_001348768.2(HECW2):c.3542C>G (p.Ala1181Gly)	HECW2 (A1181G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 982572	NM_001348768.2(HECW2):c.3235G>A (p.Val1079Met)	HECW2 (V1079M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 975711	NM_001348768.2(HECW2):c.3980T>C (p.Phe1327Ser)	HECW2 (F1327S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 870406	NM_001348768.2(HECW2):c.1072C>T (p.Pro358Ser)	HECW2 (P2S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 848063	NM_001348768.2(HECW2):c.4511C>A (p.Ser1504Tyr)	HECW2 (S1148Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GLikely pathogenic
Select item 828143	NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn)	HECW2 (S1517N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 807429	NM_001348768.2(HECW2):c.3829T>C (p.Tyr1277His)	HECW2 (Y1277H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 807428	NM_001348768.2(HECW2):c.4321T>C (p.Phe1441Leu)	HECW2 (F1441L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 801846	NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln)	HECW2 (R151Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely benign
Select item 801845	NM_001348768.2(HECW2):c.4343T>G (p.Leu1448Trp)	HECW2 (L1448W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 788515	NM_001348768.2(HECW2):c.996A>G (p.Pro332=)	HECW2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 726944	NM_020760.4(HECW2):c.3238+9T>C	HECW2	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 718508	NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser)	HECW2 (N1038S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +2 more	GBenign/Likely benign
Select item 691560	NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)	NTNG2 (M149T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 691557	NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys)	NTNG2 (S359C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 666587	NM_001348768.2(HECW2):c.4471G>C (p.Glu1491Gln)	HECW2 (E1135Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 635456	NM_001348768.2(HECW2):c.2230G>A (p.Glu744Lys)	HECW2 (E744K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 587613	NM_001348768.2(HECW2):c.-35-1G>A	HECW2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 560287	NM_001348768.2(HECW2):c.2167G>C (p.Glu723Gln)	HECW2 (E723Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GUncertain significance
Select item 523073	NM_001348768.2(HECW2):c.2741C>T (p.Thr914Met)	HECW2 (T914M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 521178	NM_001348768.2(HECW2):c.1091G>T (p.Ser364Ile)	HECW2 (S364I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GUncertain significance
Select item 377153	NM_001348768.2(HECW2):c.4436G>A (p.Arg1479Gln)	HECW2 (R1123Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more	GConflicting classifications of pathogenicity
Select item 242326	NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly)	HECW2 (E1445G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GUncertain significance
Select item 242324	NM_001348768.2(HECW2):c.3577T>G (p.Phe1193Val)	HECW2 (F1193V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GPathogenic
Select item 242318	NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)	HECW2 (R1330W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +3 more	GPathogenic
Select item 242317	NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)	HECW2 (R1191Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language +2 more	GPathogenic

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