57498[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 151155	GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4	ASAP2, CPSF3 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3353364	NC_000002.12:g.8726890A>C	KIDINS220	Single nucleotide variant (3 prime UTR variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 3353437	NM_001348743.2(KIDINS220):c.3932A>G (p.Ter1311=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 3051329	NM_001348743.2(KIDINS220):c.3929A>G (p.Asp1310Gly)	KIDINS220 (D1310G +2 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 3044347	NM_001348743.2(KIDINS220):c.3908_3911del (p.Asp1303fs)	KIDINS220 (D1303fs +2 more)	Microsatellite (frameshift variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 3355670	NM_001348743.2(KIDINS220):c.3905T>C (p.Ile1302Thr)	KIDINS220 (I1302T +2 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 3348883	NM_020738.4(KIDINS220):c.*10G>C	KIDINS220	Single nucleotide variant (3 prime UTR variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 1166247	NM_020738.4(KIDINS220):c.5304A>G (p.Glu1768=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3352396	NM_020738.4(KIDINS220):c.5279G>A (p.Ser1760Asn)	KIDINS220 (S1661N +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 2806874	NM_020738.4(KIDINS220):c.5259T>C (p.His1753=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991558	NM_020738.4(KIDINS220):c.5258A>G (p.His1753Arg)	KIDINS220 (H1696R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2162559	NM_020738.4(KIDINS220):c.5255T>G (p.Leu1752Arg)	KIDINS220 (L1653R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2618564	NM_020738.4(KIDINS220):c.5254C>T (p.Leu1752Phe)	KIDINS220 (L1653F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1576079	NM_020738.4(KIDINS220):c.5250G>A (p.Pro1750=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1474635	NM_020738.4(KIDINS220):c.5249C>T (p.Pro1750Leu)	KIDINS220 (P1694L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3353823	NM_020738.4(KIDINS220):c.5242G>T (p.Asp1748Tyr)	KIDINS220 (D1649Y +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 3346396	NM_020738.4(KIDINS220):c.5242G>A (p.Asp1748Asn)	KIDINS220 (D1649N +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 3356937	NM_020738.4(KIDINS220):c.5229A>G (p.Thr1743=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 3025894	NM_020738.4(KIDINS220):c.5227A>G (p.Thr1743Ala)	KIDINS220 (T1644A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000164	NM_020738.4(KIDINS220):c.5220A>G (p.Ser1740=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2697731	NM_020738.4(KIDINS220):c.5219C>T (p.Ser1740Leu)	KIDINS220 (S1684L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3288244	NM_020738.4(KIDINS220):c.5216G>A (p.Arg1739His)	KIDINS220 (R1640H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233953	NM_020738.4(KIDINS220):c.5215C>T (p.Arg1739Cys)	KIDINS220 (R1682C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2650644	NM_020738.4(KIDINS220):c.5214A>G (p.Gln1738=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2142281	NM_020738.4(KIDINS220):c.5207G>A (p.Arg1736Gln)	KIDINS220 (R1637Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907784	NM_020738.4(KIDINS220):c.5206C>T (p.Arg1736Ter)	KIDINS220 (R1637* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2160647	NM_020738.4(KIDINS220):c.5197A>G (p.Thr1733Ala)	KIDINS220 (T1634A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2013428	NM_020738.4(KIDINS220):c.5194A>G (p.Met1732Val)	KIDINS220 (M1676V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931692	NM_020738.4(KIDINS220):c.5191A>T (p.Ser1731Cys)	KIDINS220 (S1632C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311478	NM_020738.4(KIDINS220):c.5166del (p.Thr1723fs)	KIDINS220 (T1624fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1547491	NM_020738.4(KIDINS220):c.5151C>T (p.Ser1717=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2256710	NM_020738.4(KIDINS220):c.5147G>A (p.Ser1716Asn)	KIDINS220 (S1660N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3357968	NM_020738.4(KIDINS220):c.5133C>A (p.Val1711=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 2024970	NM_020738.4(KIDINS220):c.5127T>C (p.Ser1709=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933102	NM_020738.4(KIDINS220):c.5123C>T (p.Thr1708Ile)	KIDINS220 (T1651I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3350486	NM_020738.4(KIDINS220):c.5117G>T (p.Arg1706Met)	KIDINS220 (R1607M +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 3356044	NM_020738.4(KIDINS220):c.5109G>A (p.Glu1703=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 2183884	NM_020738.4(KIDINS220):c.5106G>A (p.Met1702Ile)	KIDINS220 (M1683I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2062970	NM_020738.4(KIDINS220):c.5097C>T (p.Phe1699=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2634302	NM_020738.4(KIDINS220):c.5092A>G (p.Asn1698Asp)	KIDINS220 (N1599D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3348695	NM_020738.4(KIDINS220):c.5080A>G (p.Arg1694Gly)	KIDINS220 (R1595G +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 430805	NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)	KIDINS220 (N1637fs +6 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 2900072	NM_020738.4(KIDINS220):c.5076C>T (p.Ala1692=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1908152	NM_020738.4(KIDINS220):c.5076C>G (p.Ala1692=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2224651	NM_020738.4(KIDINS220):c.5068G>A (p.Ala1690Thr)	KIDINS220 (A1634T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1654538	NM_020738.4(KIDINS220):c.5055G>A (p.Leu1685=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 764983	NM_020738.4(KIDINS220):c.5049G>A (p.Val1683=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3054372	NM_020738.4(KIDINS220):c.5046C>T (p.Thr1682=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 2095442	NM_020738.4(KIDINS220):c.5036C>T (p.Thr1679Ile)	KIDINS220 (T1580I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804522	NM_020738.4(KIDINS220):c.5036C>G (p.Thr1679Ser)	KIDINS220 (T1580S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3376561	NM_020738.4(KIDINS220):c.5032C>T (p.Arg1678Ter)	KIDINS220 (R1579* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 2884629	NM_020738.4(KIDINS220):c.5021A>G (p.Tyr1674Cys)	KIDINS220 (Y1575C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2281231	NM_020738.4(KIDINS220):c.5008T>G (p.Cys1670Gly)	KIDINS220 (C1652G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1950470	NM_020738.4(KIDINS220):c.5005G>A (p.Ala1669Thr)	KIDINS220 (A1570T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3354569	NM_020738.4(KIDINS220):c.5002C>T (p.Pro1668Ser)	KIDINS220 (P1569S +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 1712226	NM_020738.4(KIDINS220):c.5001G>T (p.Trp1667Cys)	KIDINS220 (W1568C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2634392	NM_020738.4(KIDINS220):c.4970G>A (p.Ser1657Asn)	KIDINS220 (S1558N +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 3354841	NM_020738.4(KIDINS220):c.4963G>A (p.Glu1655Lys)	KIDINS220 (E1556K +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 2443497	NM_020738.4(KIDINS220):c.4963G>T (p.Glu1655Ter)	KIDINS220 (E1556* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1917022	NM_020738.4(KIDINS220):c.4962C>T (p.Ser1654=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920145	NM_020738.4(KIDINS220):c.4949A>G (p.Lys1650Arg)	KIDINS220 (K1632R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729662	NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu)	KIDINS220 (D1592E +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity +1 more	GConflicting classifications of pathogenicity
Select item 3347106	NM_020738.4(KIDINS220):c.4937G>T (p.Cys1646Phe)	KIDINS220 (C1547F +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 1401887	NM_020738.4(KIDINS220):c.4926G>T (p.Arg1642=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1979254	NM_020738.4(KIDINS220):c.4925G>A (p.Arg1642Gln)	KIDINS220 (R1585Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956551	NM_020738.4(KIDINS220):c.4924C>T (p.Arg1642Trp)	KIDINS220 (R1585W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357047	NM_020738.4(KIDINS220):c.4919T>C (p.Ile1640Thr)	KIDINS220 (I1541T +6 more)	Single nucleotide variant (missense variant +1 more)	KIDINS220-related disorder	GUncertain significance
Select item 2021847	NM_020738.4(KIDINS220):c.4917T>A (p.Ile1639=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955050	NM_020738.4(KIDINS220):c.4915A>T (p.Ile1639Phe)	KIDINS220 (I1540F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1488955	NM_020738.4(KIDINS220):c.4915A>G (p.Ile1639Val)	KIDINS220 (I1540V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3355343	NM_020738.4(KIDINS220):c.4902C>A (p.Gly1634=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	KIDINS220-related disorder	GLikely benign
Select item 3288241	NM_020738.4(KIDINS220):c.4893C>G (p.Ser1631Arg)	KIDINS220 (S1574R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1342417	NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg)	KIDINS220 (H1531R +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 3002850	NM_020738.4(KIDINS220):c.4879G>A (p.Gly1627Arg)	KIDINS220 (G1608R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1423310	NM_020738.4(KIDINS220):c.4877G>A (p.Arg1626Gln)	KIDINS220 (R1527Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1474570	NM_020738.4(KIDINS220):c.4876C>T (p.Arg1626Trp)	KIDINS220 (R1527W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516363	NM_020738.4(KIDINS220):c.4870G>A (p.Gly1624Arg)	KIDINS220 (G1525R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909209	NM_020738.4(KIDINS220):c.4869C>T (p.Ser1623=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2499325	NM_020738.4(KIDINS220):c.4867A>G (p.Ser1623Gly)	KIDINS220 (S1524G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191049	NM_020738.4(KIDINS220):c.4864C>T (p.His1622Tyr)	KIDINS220 (H1622Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679777	NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro)	KIDINS220 (L1518P +6 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 3003391	NM_020738.4(KIDINS220):c.4840C>G (p.Leu1614Val)	KIDINS220 (L1557V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2146522	NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)	KIDINS220 (A1594E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3366101	NM_020738.4(KIDINS220):c.4825C>T (p.Leu1609Phe)	KIDINS220 (L1510F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1169867	NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)	KIDINS220 (Q1509H +6 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly and arthrogryposis +2 more	GBenign
Select item 1710066	NM_020738.4(KIDINS220):c.4822C>T (p.Gln1608Ter)	KIDINS220 (Q1509* +6 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia, intellectual disability, nystagmus, and obesity	GUncertain significance
Select item 2059914	NM_020738.4(KIDINS220):c.4821C>G (p.Ser1607=)	KIDINS220	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981747	NM_020738.4(KIDINS220):c.4813G>A (p.Asp1605Asn)	KIDINS220 (D1549N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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