HECW2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 381

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
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	GBenign
Select item 522028	NM_001348768.2(HECW2):c.4714G>A (p.Glu1572Lys)	HECW2 (E1572K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 2578893	NM_001348768.2(HECW2):c.4647C>T (p.Tyr1549=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 720294	NM_001348768.2(HECW2):c.4617A>T (p.Thr1539=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712429	NM_001348768.2(HECW2):c.4560A>C (p.Pro1520=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708316	NM_001348768.2(HECW2):c.4554C>T (p.Asn1518=)	HECW2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 985697	NM_001348768.2(HECW2):c.4514G>C (p.Ser1505Thr)	HECW2 (S1149T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 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 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 521150	NM_001348768.2(HECW2):c.4485G>T (p.Arg1495Ser)	HECW2 (R1495S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1343131	NM_001348768.2(HECW2):c.4477C>T (p.Arg1493Ter)	HECW2 (R1137* +1 more)	Single nucleotide variant (nonsense)	Developmental disorder	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 3105029	NM_001348768.2(HECW2):c.4447G>A (p.Ala1483Thr)	HECW2 (A1127T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377153	NM_001348768.2(HECW2):c.4436G>A (p.Arg1479Gln)	HECW2 (R1123Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3026128	NM_001348768.2(HECW2):c.4435C>T (p.Arg1479Trp)	HECW2 (R1123W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 755852	NM_001348768.2(HECW2):c.4359A>C (p.Thr1453=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452960	NM_001348768.2(HECW2):c.4358C>T (p.Thr1453Ile)	HECW2 (T1453I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651780	NM_001348768.2(HECW2):c.4355G>C (p.Gly1452Ala)	HECW2 (G1096A +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 1690608	NM_001348768.2(HECW2):c.4328C>T (p.Ala1443Val)	HECW2 (A1087V +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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 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 2651781	NM_001348768.2(HECW2):c.4314A>G (p.Val1438=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1335432	NM_001348768.2(HECW2):c.4260G>A (p.Gln1420=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737596	NM_001348768.2(HECW2):c.4242T>C (p.Ile1414=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517049	NM_001348768.2(HECW2):c.4223G>C (p.Arg1408Thr)	HECW2 (R1408T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3061694	NM_001348768.2(HECW2):c.4186C>A (p.Pro1396Thr)	HECW2 (P1040T +1 more)	Single nucleotide variant (missense variant)	HECW2-related condition	GUncertain significance
Select item 718508	NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser)	HECW2 (N1038S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 751081	NM_020760.4(HECW2):c.4146+3G>A	HECW2	Single nucleotide variant	not provided	GLikely benign
Select item 2572210	NM_001348768.2(HECW2):c.4129G>A (p.Glu1377Lys)	HECW2 (E1021K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 767834	NM_001348768.2(HECW2):c.4020A>G (p.Leu1340=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related condition +1 more	GBenign
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 2498860	NM_001348768.2(HECW2):c.4006C>T (p.Leu1336Phe)	HECW2 (L1336F +1 more)	Single nucleotide variant (missense variant)	not provided	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 522012	NM_001348768.2(HECW2):c.3989G>A (p.Arg1330Gln)	HECW2 (R1330Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 +2 more	GPathogenic
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 3053797	NM_001348768.2(HECW2):c.3963G>A (p.Gln1321=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related condition	GLikely benign
Select item 2505245	NM_001348768.2(HECW2):c.3956T>C (p.Ile1319Thr)	HECW2 (I1319T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298851	NM_001348768.2(HECW2):c.3949G>A (p.Ala1317Thr)	HECW2 (A1317T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306798	NM_001348768.2(HECW2):c.3939C>G (p.Ile1313Met)	HECW2 (I1313M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738351	NM_001348768.2(HECW2):c.3864A>C (p.Thr1288=)	HECW2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 2682433	NM_001348768.2(HECW2):c.3752T>C (p.Val1251Ala)	HECW2 (V1251A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628422	NM_001348768.2(HECW2):c.3752T>G (p.Val1251Gly)	HECW2 (V1251G +1 more)	Single nucleotide variant (missense variant)	HECW2-related condition	GUncertain significance
Select item 3105028	NM_001348768.2(HECW2):c.3730A>C (p.Asn1244His)	HECW2 (N888H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238117	NM_001348768.2(HECW2):c.3704G>C (p.Gly1235Ala)	HECW2 (G879A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503261	NM_001348768.2(HECW2):c.3700A>G (p.Met1234Val)	HECW2 (M1234V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302400	NM_001348768.2(HECW2):c.3694C>A (p.Gln1232Lys)	HECW2 (Q1232K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303250	NM_001348768.2(HECW2):c.3683A>G (p.Asp1228Gly)	HECW2 (D1228G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764937	NM_001348768.2(HECW2):c.3678A>G (p.Leu1226=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737374	NM_020760.4(HECW2):c.3650+9_3650+10del	HECW2	Deletion	HECW2-related condition +1 more	GBenign
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 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 1320684	NM_001348768.2(HECW2):c.3584C>G (p.Ala1195Gly)	HECW2 (A1195G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521049	NM_001348768.2(HECW2):c.3583G>C (p.Ala1195Pro)	HECW2 (A1195P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 740565	NM_001348768.2(HECW2):c.3579C>T (p.Phe1193=)	HECW2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 242317	NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)	HECW2 (R1191Q +1 more)	Single nucleotide variant (missense variant)	HECW2-related condition +3 more	GPathogenic
Select item 809132	NM_001348768.2(HECW2):c.3571C>T (p.Arg1191Trp)	HECW2 (R1191W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1695821	NM_001348768.2(HECW2):c.3568A>G (p.Lys1190Glu)	HECW2 (K1190E +1 more)	Single nucleotide variant (missense variant)	not provided	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 3038349	NM_001348768.2(HECW2):c.3555T>C (p.Ala1185=)	HECW2	Single nucleotide variant (synonymous variant)	HECW2-related condition	GLikely benign
Select item 989308	NM_001348768.2(HECW2):c.3551G>C (p.Arg1184Pro)	HECW2 (R1184P +1 more)	Single nucleotide variant (missense variant)	HECW2-related neurodevelopmental disorder	GUncertain significance
Select item 2630686	NM_001348768.2(HECW2):c.3550C>T (p.Arg1184Trp)	HECW2 (R1184W +1 more)	Single nucleotide variant (missense variant)	HECW2-related condition	GUncertain significance
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 2501959	NM_001348768.2(HECW2):c.3529G>C (p.Gly1177Arg)	HECW2 (G1177R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321693	NM_001348768.2(HECW2):c.3505G>T (p.Val1169Leu)	HECW2 (V1169L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3027348	NM_001348768.2(HECW2):c.3451C>T (p.Pro1151Ser)	HECW2 (P1151S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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	GBenign
Select item 767835	NM_001348768.2(HECW2):c.3444= (p.Ser1148=)	HECW2	Variation (no sequence alteration)	not provided	GBenign
Select item 734068	NM_020760.4(HECW2):c.3419+5A>G	HECW2	Single nucleotide variant	not provided	GLikely benign
Select item 1326699	NM_001348768.2(HECW2):c.3401A>G (p.Asp1134Gly)	HECW2 (D1134G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254098	NM_001348768.2(HECW2):c.3394G>A (p.Asp1132Asn)	HECW2 (D1132N +1 more)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 2520424	NM_001348768.2(HECW2):c.3391A>G (p.Ser1131Gly)	HECW2 (S1131G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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	GUncertain significance

<< First< Prev

Page of 4