ClinVar for MedGen (Select 1676192) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068464	NM_001378418.1(TCF20):c.2779C>T (p.Gln927Ter)	TCF20 (Q927*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3068389	NM_001378418.1(TCF20):c.3553C>T (p.Gln1185Ter)	TCF20 (Q1185*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3068370	NM_001378418.1(TCF20):c.5133G>A (p.Trp1711Ter)	TCF20 (W1711*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3065731	NM_001378418.1(TCF20):c.3362dup (p.Ser1122fs)	TCF20 (S1122fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3061750	NM_001378418.1(TCF20):c.3083dup (p.Asp1029fs)	TCF20 (D1029fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3024326	NM_001378418.1(TCF20):c.3504del (p.Asp1168fs)	TCF20 (D1168fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3024308	NM_001378418.1(TCF20):c.3244C>T (p.Gln1082Ter)	TCF20 (Q1082*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 2921143	NM_001378418.1(TCF20):c.5451T>G (p.Ser1817Arg)	TCF20 (S1817R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2691001	NM_001378418.1(TCF20):c.2066dup (p.Gly691fs)	TCF20 (G691fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 2690228	NM_001378418.1(TCF20):c.3133C>T (p.Arg1045Trp)	TCF20 (R1045W)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2664035	NM_001378418.1(TCF20):c.5006C>G (p.Ser1669Ter)	TCF20 (S1669*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 2628322	NM_001378418.1(TCF20):c.1171C>T (p.Gln391Ter)	TCF20 (Q391*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 2585404	NM_001378418.1(TCF20):c.2747C>T (p.Ser916Phe)	TCF20 (S916F)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2585011	NM_001378418.1(TCF20):c.569C>G (p.Ser190Cys)	TCF20 (S190C)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2579695	NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)	TCF20 (G857fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic/Likely pathogenic
Select item 2571818	NM_001378418.1(TCF20):c.4737del (p.Lys1579fs)	TCF20 (K1579fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2437021	NM_001378418.1(TCF20):c.1461G>T (p.Lys487Asn)	TCF20 (K487N)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437020	NM_001378418.1(TCF20):c.5445C>T (p.Gly1815=)	TCF20	Single nucleotide variant (synonymous variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437019	NM_001378418.1(TCF20):c.4981G>A (p.Val1661Met)	TCF20 (V1661M)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437018	NM_001378418.1(TCF20):c.34G>A (p.Gly12Arg)	TCF20 (G12R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437017	NM_001378418.1(TCF20):c.3577C>T (p.Arg1193Trp)	TCF20 (R1193W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437016	NM_001378418.1(TCF20):c.4379C>A (p.Pro1460His)	TCF20 (P1460H)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437015	NM_001378418.1(TCF20):c.3398G>A (p.Arg1133Gln)	TCF20 (R1133Q)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437014	NM_001378418.1(TCF20):c.4858C>T (p.Pro1620Ser)	TCF20 (P1620S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437013	NM_001378418.1(TCF20):c.5402C>G (p.Ser1801Cys)	TCF20 (S1801C)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437012	NM_001378418.1(TCF20):c.1769C>T (p.Pro590Leu)	TCF20 (P590L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437011	NM_001378418.1(TCF20):c.5344G>A (p.Ala1782Thr)	TCF20 (A1782T)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437010	NM_001378418.1(TCF20):c.4367C>G (p.Ala1456Gly)	TCF20 (A1456G)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437009	NM_001378418.1(TCF20):c.1844G>T (p.Gly615Val)	TCF20 (G615V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 2437008	NM_001378418.1(TCF20):c.5702A>G (p.Asn1901Ser)	TCF20 (N1901S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437007	NM_001378418.1(TCF20):c.2996A>T (p.Glu999Val)	TCF20 (E999V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437006	NM_001378418.1(TCF20):c.1484C>G (p.Ala495Gly)	TCF20 (A495G)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437004	NM_001378418.1(TCF20):c.3604G>A (p.Gly1202Ser)	TCF20 (G1202S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2437003	NM_001378418.1(TCF20):c.1852G>A (p.Glu618Lys)	TCF20 (E618K)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437002	NM_001378418.1(TCF20):c.1378A>T (p.Ser460Cys)	TCF20 (S460C)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437001	NM_001378418.1(TCF20):c.3268T>C (p.Tyr1090His)	TCF20 (Y1090H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437000	NM_001378418.1(TCF20):c.1085A>C (p.Gln362Pro)	TCF20 (Q362P)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2436999	NM_001378418.1(TCF20):c.3853C>T (p.Leu1285Phe)	TCF20 (L1285F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436998	NM_001378418.1(TCF20):c.2045A>G (p.Gln682Arg)	TCF20 (Q682R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2436997	NM_001378418.1(TCF20):c.1258C>T (p.Pro420Ser)	TCF20 (P420S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2436996	NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala)	TCF20 (P840A)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2431584	NM_001378418.1(TCF20):c.146G>C (p.Gly49Ala)	TCF20 (G49A)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2428715	NM_001378418.1(TCF20):c.4886A>G (p.Lys1629Arg)	TCF20 (K1629R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2184432	NM_001378418.1(TCF20):c.2738G>A (p.Gly913Asp)	TCF20 (G913D)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 2167086	NM_001378418.1(TCF20):c.5042C>T (p.Ala1681Val)	TCF20 (A1681V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 1992045	NM_001378418.1(TCF20):c.761G>A (p.Ser254Asn)	TCF20 (S254N)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 1806318	NM_001378418.1(TCF20):c.137G>T (p.Gly46Val)	TCF20 (G46V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1806250	NM_001378418.1(TCF20):c.2230G>A (p.Gly744Ser)	TCF20 (G744S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1805578	NM_001378418.1(TCF20):c.2380C>T (p.Gln794Ter)	TCF20 (Q794*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1804070	NM_001378418.1(TCF20):c.3943_3944del (p.Asp1315fs)	TCF20 (D1315fs)	Microsatellite (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1722411	NM_001378418.1(TCF20):c.2594C>A (p.Ser865Ter)	TCF20 (S865*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1708266	NM_001378418.1(TCF20):c.719CCT[5] (p.Ser245_Ser246del)	TCF20	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707594	NM_001378418.1(TCF20):c.4187G>A (p.Gly1396Glu)	TCF20 (G1396E)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1703090	NM_001378418.1(TCF20):c.731C>T (p.Ser244Phe)	TCF20 (S244F)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1701649	NM_001378418.1(TCF20):c.1121C>T (p.Ala374Val)	TCF20 (A374V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1699287	NM_001378418.1(TCF20):c.2777G>T (p.Gly926Val)	TCF20 (G926V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1699206	NM_001378418.1(TCF20):c.2318_2319del (p.Gln773fs)	TCF20 (Q773fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1696762	NM_001378418.1(TCF20):c.5549A>G (p.Asn1850Ser)	TCF20 (N1850S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1696276	NM_001378418.1(TCF20):c.5641dup (p.Ile1881fs)	TCF20 (I1881fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1687294	NM_001378418.1(TCF20):c.5569_5570dup (p.Cys1858fs)	TCF20 (C1858fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1687256	NM_001378418.1(TCF20):c.1435del (p.Ala478_Leu479insTer)	TCF20	Deletion (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1686250	NM_001378418.1(TCF20):c.4988dup (p.Arg1664fs)	TCF20 (R1664fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1683755	NM_001378418.1(TCF20):c.3121G>C (p.Glu1041Gln)	TCF20 (E1041Q)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +2 more	GUncertain significance
Select item 1679343	NM_001378418.1(TCF20):c.2748del (p.Met917fs)	TCF20 (M917fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1679275	NM_001378418.1(TCF20):c.1411C>T (p.Gln471Ter)	TCF20 (Q471*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1676561	NM_005650.4(TCF20):c.5521C>A (p.Gln1841Lys)	TCF20 (Q1841K)	Single nucleotide variant	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1485259	NM_001378418.1(TCF20):c.5308CAG[6] (p.Gln1774dup)	TCF20	Microsatellite (inframe_insertion)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1415946	NM_001378418.1(TCF20):c.442G>A (p.Gly148Ser)	TCF20 (G148S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1342544	NM_001378418.1(TCF20):c.3496T>C (p.Ser1166Pro)	TCF20 (S1166P)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 1342405	NM_001378418.1(TCF20):c.565C>T (p.Gln189Ter)	TCF20 (Q189*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1339198	NM_001378418.1(TCF20):c.5583G>A (p.Trp1861Ter)	TCF20 (W1861*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1339076	NM_001378418.1(TCF20):c.546G>C (p.Gln182His)	TCF20 (Q182H)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1333553	NM_001378418.1(TCF20):c.2260C>T (p.Gln754Ter)	TCF20 (Q754*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GPathogenic
Select item 1326918	NM_001378418.1(TCF20):c.1144dup (p.Cys382fs)	TCF20 (C382fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1325604	NM_001378418.1(TCF20):c.*44+8G>A	TCF20	Single nucleotide variant (intron variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1323680	NM_001378418.1(TCF20):c.5559G>A (p.Trp1853Ter)	TCF20 (W1853*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1285572	NM_001378418.1(TCF20):c.4017_4020dup (p.Ile1341fs)	TCF20 (I1341fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1285487	NM_001378418.1(TCF20):c.1833dup (p.Ala612fs)	TCF20 (A612fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1285469	NM_001378418.1(TCF20):c.3169_3170del (p.Glu1057fs)	TCF20 (E1057fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1213736	NM_001378418.1(TCF20):c.1894C>A (p.Pro632Thr)	TCF20 (P632T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1188821	NM_001378418.1(TCF20):c.1656dup (p.Ser553fs)	TCF20 (S553fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1164052	NM_001378418.1(TCF20):c.3849_3850insTC (p.Leu1284fs)	TCF20 (L1284fs)	Insertion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1164051	NM_001378418.1(TCF20):c.5221_5222del (p.Arg1741fs)	TCF20 (R1741fs)	Microsatellite (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1030006	NM_001378418.1(TCF20):c.4330A>G (p.Lys1444Glu)	TCF20 (K1444E)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1030005	NM_001378418.1(TCF20):c.4016C>T (p.Thr1339Ile)	TCF20 (T1339I)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1030004	NM_001378418.1(TCF20):c.3967C>T (p.Pro1323Ser)	TCF20 (P1323S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 996888	NM_001378418.1(TCF20):c.3943G>A (p.Asp1315Asn)	TCF20 (D1315N)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 996835	NM_001378418.1(TCF20):c.256G>A (p.Ala86Thr)	TCF20 (A86T)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 982861	NM_001378418.1(TCF20):c.3125G>C (p.Arg1042Thr)	TCF20 (R1042T)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 982388	NM_001378418.1(TCF20):c.5187T>G (p.Tyr1729Ter)	TCF20 (Y1729*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 978454	NM_001378418.1(TCF20):c.5387G>A (p.Gly1796Asp)	TCF20 (G1796D)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 976676	NM_001378418.1(TCF20):c.2200G>T (p.Gly734Ter)	TCF20 (G734*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 975623	NM_001378418.1(TCF20):c.4982_4985del (p.Val1661fs)	TCF20 (V1661fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 930483	NM_001378418.1(TCF20):c.4115G>A (p.Ser1372Asn)	TCF20 (S1372N)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 915397	NM_001378418.1(TCF20):c.278C>T (p.Ala93Val)	TCF20 (A93V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 816895	NM_001378418.1(TCF20):c.1249C>T (p.Gln417Ter)	TCF20 (Q417*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 807512	NM_001378418.1(TCF20):c.4441_4444dup (p.Ser1482fs)	TCF20 (S1482fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 803707	NM_001378418.1(TCF20):c.4670C>T (p.Pro1557Leu)	TCF20 (P1557L)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GBenign
Select item 631508	NM_001378418.1(TCF20):c.1520del (p.Pro507fs)	TCF20 (P507fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic

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