ClinVar for MedGen (Select 934707) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255098	NM_007118.4(TRIO):c.6227T>C (p.Ile2076Thr)	TRIO (I2076T)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 3254929	NM_007118.4(TRIO):c.4309A>G (p.Lys1437Glu)	TRIO (K1437E)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 3254928	NM_007118.4(TRIO):c.5765C>T (p.Ala1922Val)	TRIO (A1922V)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3238822	NM_007118.4(TRIO):c.5345_5355dup (p.Ser1786fs)	TRIO (S1786fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GLikely pathogenic
Select item 3236236	NM_007118.4(TRIO):c.7048_7051del (p.Pro2350fs)	TRIO (P2350fs)	Deletion (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 3235146	NM_007118.4(TRIO):c.8864dup (p.Asn2955fs)	TRIO (N2955fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3234061	NM_007118.4(TRIO):c.6560_6561del (p.Arg2187fs)	TRIO (R2187fs)	Microsatellite (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 3068520	NM_007118.4(TRIO):c.5912+3A>G	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 3068459	NM_007118.4(TRIO):c.6083_6084insT (p.Phe2029fs)	TRIO (F2029fs)	Insertion (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 3068362	NM_007118.4(TRIO):c.5204-3C>G	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3066284	NM_007118.4(TRIO):c.2770C>T (p.Arg924Cys)	TRIO (R924C)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3066158	NM_007118.4(TRIO):c.2754+2T>C	TRIO	Single nucleotide variant (splice donor variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 3066108	NM_007118.4(TRIO):c.1500G>A (p.Glu500=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3066076	NM_007118.4(TRIO):c.8159G>A (p.Gly2720Asp)	LOC126807323, TRIO (G2720D)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 3065881	NM_007118.4(TRIO):c.2771G>A (p.Arg924His)	TRIO (R924H)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3065200	NM_007118.4(TRIO):c.6397G>A (p.Glu2133Lys)	TRIO (E2133K)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3064071	NM_007118.4(TRIO):c.5599G>A (p.Val1867Met)	TRIO (V1867M)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3063602	NM_007118.4(TRIO):c.5020G>A (p.Glu1674Lys)	TRIO (E1674K)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3061906	NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)	TRIO (G1448E)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2692336	NM_007118.4(TRIO):c.7317_7345del (p.Ser2440fs)	TRIO (S2440fs)	Deletion (frameshift variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2664722	NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)	TRIO (Y2061D)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 2627941	NM_007118.4(TRIO):c.5763+1G>T	TRIO	Single nucleotide variant (splice donor variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2626872	NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)	LOC126807321, TRIO (D1551fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2582695	NM_007118.4(TRIO):c.7711A>T (p.Asn2571Tyr)	TRIO (N2571Y)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 2580903	NM_007118.4(TRIO):c.4716G>A (p.Lys1572=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2571638	NM_007118.4(TRIO):c.2957G>A (p.Arg986Gln)	TRIO (R986Q)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 2571589	NM_007118.4(TRIO):c.7294_7295delinsAA (p.Ala2432Asn)	TRIO (A2432N)	Indel (missense variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 2504620	NM_007118.4(TRIO):c.6968G>A (p.Gly2323Asp)	TRIO (G2323D)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 2503435	NM_007118.4(TRIO):c.2638_2641dup (p.Leu881fs)	TRIO (L881fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2441634	NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile)	TRIO (T1668I)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 2431686	NM_007118.4(TRIO):c.2386A>G (p.Ile796Val)	TRIO (I796V)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 2430454	NM_007118.4(TRIO):c.1368G>A (p.Lys456=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 2429789	NM_007118.4(TRIO):c.5667G>C (p.Lys1889Asn)	TRIO (K1889N)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 2429330	NM_007118.4(TRIO):c.8162C>T (p.Pro2721Leu)	LOC126807323, TRIO (P2721L)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GBenign
Select item 2358711	NM_007118.4(TRIO):c.7463C>T (p.Ser2488Phe)	TRIO (S2488F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2304578	NM_007118.4(TRIO):c.8492T>C (p.Leu2831Ser)	TRIO (L2831S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2203765	NM_007118.4(TRIO):c.3935G>A (p.Arg1312Gln)	TRIO (R1312Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1805839	NM_007118.4(TRIO):c.6661A>G (p.Ser2221Gly)	TRIO (S2221G)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1804901	NM_007118.4(TRIO):c.6818A>G (p.Gln2273Arg)	TRIO (Q2273R)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1804114	NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)	TRIO (R100*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1709305	NM_007118.4(TRIO):c.757dup (p.Ala253fs)	TRIO (A253fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1707527	NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)	TRIO (Q1191*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1707513	NM_007118.4(TRIO):c.5491_5496+12del	TRIO	Deletion (splice donor variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 1701969	NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val)	TRIO (I1187V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1700221	NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter)	TRIO (Y621*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1700220	NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly)	TRIO (D1368G)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GConflicting classifications of pathogenicity
Select item 1699466	NM_007118.4(TRIO):c.6374C>T (p.Thr2125Ile)	TRIO (T2125I)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1699365	NM_007118.4(TRIO):c.2714A>C (p.Gln905Pro)	TRIO (Q905P)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1699216	NM_007118.4(TRIO):c.6153+4A>G	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1699104	NM_007118.4(TRIO):c.2541C>G (p.His847Gln)	TRIO (H847Q)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1696746	NM_007118.4(TRIO):c.2046+6G>T	TRIO	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1696579	NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn)	TRIO (S2417N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1696569	NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met)	TRIO (L2896M)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1694452	NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg)	TRIO (P1461R)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic/Likely pathogenic
Select item 1687161	NM_007118.4(TRIO):c.4751A>T (p.Lys1584Met)	TRIO (K1584M)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1685464	NM_007118.4(TRIO):c.3570+3G>A	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1684083	NM_007118.4(TRIO):c.7050dup (p.Val2351fs)	TRIO (V2351fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1683784	NM_007118.4(TRIO):c.838C>T (p.Gln280Ter)	TRIO (Q280*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 1683648	NM_007118.4(TRIO):c.7264G>A (p.Ala2422Thr)	TRIO (A2422T)	Single nucleotide variant (missense variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1683647	NM_007118.4(TRIO):c.7156G>C (p.Gly2386Arg)	TRIO (G2386R)	Single nucleotide variant (missense variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1679620	NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met)	TRIO (L1660M)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1679247	NM_007118.4(TRIO):c.5680T>A (p.Leu1894Ile)	TRIO (L1894I)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1675327	NM_007118.4(TRIO):c.2570dup (p.Asn857fs)	TRIO (N857fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1527941	NM_007118.4(TRIO):c.3332-1_3332del	TRIO	Deletion (splice acceptor variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1345030	Single allele	TRIO	Deletion	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1342650	NM_007118.4(TRIO):c.53C>G (p.Ala18Gly)	TRIO (A18G)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1342618	NM_007118.4(TRIO):c.8019+6T>G	TRIO	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1342271	NM_007118.4(TRIO):c.541-20G>A	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GBenign
Select item 1339855	NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg)	TRIO (P2350R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1335573	NM_007118.4(TRIO):c.968A>G (p.Gln323Arg)	TRIO (Q323R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1334723	NM_007118.4(TRIO):c.4495del (p.Thr1499fs)	TRIO (T1499fs)	Deletion (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1333958	NM_007118.4(TRIO):c.2521T>G (p.Leu841Val)	TRIO (L841V)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1330242	NM_007118.4(TRIO):c.1013A>G (p.Gln338Arg)	TRIO (Q338R)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1329877	NM_007118.4(TRIO):c.6836-6T>C	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1328546	NM_007118.4(TRIO):c.2105C>T (p.Ser702Leu)	TRIO (S702L)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1297011	NM_007118.4(TRIO):c.6554_6557del (p.Glu2185fs)	TRIO (E2185fs)	Microsatellite (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1282186	NM_007118.4(TRIO):c.4020C>T (p.Ile1340=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1276378	NM_007118.4(TRIO):c.3882-36C>G	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +2 more	GBenign
Select item 1272078	NM_007118.4(TRIO):c.5203+20G>A	TRIO	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1270597	NM_007118.4(TRIO):c.4398T>C (p.Asp1466=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1270427	NM_007118.4(TRIO):c.5496+34G>A	TRIO	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1267134	NM_007118.4(TRIO):c.3332-33C>T	TRIO	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1264221	NM_007118.4(TRIO):c.5497-48C>T	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +2 more	GBenign
Select item 1261399	NM_007118.4(TRIO):c.5523C>T (p.Ser1841=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1249811	NM_007118.4(TRIO):c.4311+44G>A	TRIO	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1225764	NM_007118.4(TRIO):c.5100A>C (p.Thr1700=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +2 more	GBenign
Select item 1222727	NM_007118.4(TRIO):c.3033C>T (p.Asn1011=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1194777	NM_007118.4(TRIO):c.3332-8T>C	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +3 more	GLikely benign
Select item 1191758	NM_007118.4(TRIO):c.6154-47G>A	TRIO	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +2 more	GBenign/Likely benign
Select item 1189637	NM_007118.4(TRIO):c.7001G>C (p.Ser2334Thr)	TRIO (S2334T)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +2 more	GUncertain significance
Select item 1071400	NM_007118.4(TRIO):c.6092del (p.Phe2030_Leu2031insTer)	TRIO	Deletion (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1032524	NM_007118.4(TRIO):c.8237T>C (p.Ile2746Thr)	LOC126807323, TRIO (I2746T)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1032523	NM_007118.4(TRIO):c.8084C>T (p.Thr2695Met)	LOC126807323, TRIO (T2695M)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1032522	NM_007118.4(TRIO):c.6083+4C>T	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1032521	NM_007118.4(TRIO):c.4300C>T (p.Leu1434Phe)	TRIO (L1434F)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GLikely pathogenic
Select item 1031709	NM_007118.4(TRIO):c.4241T>C (p.Leu1414Ser)	TRIO (L1414S)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1031147	NM_007118.4(TRIO):c.8647C>T (p.Arg2883Ter)	TRIO (R2883*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1031146	NM_007118.4(TRIO):c.7301C>T (p.Ala2434Val)	TRIO (A2434V)	Single nucleotide variant (missense variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 1031145	NM_007118.4(TRIO):c.7222C>G (p.Pro2408Ala)	TRIO (P2408A)	Single nucleotide variant (missense variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance

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