84700[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148675	GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3	CRYBB2, CRYBB3 +35 more	Copy number gain	See cases	GLikely benign
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 2000525	NM_032608.7(MYO18B):c.-110+4231_-110+4232delinsTC	MYO18B	Indel (intron variant)	not provided	GUncertain significance
Select item 1598718	NM_032608.7(MYO18B):c.-110+4232A>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321829	NM_032608.7(MYO18B):c.9C>G (p.Ile3Met)	MYO18B (I3M)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 1314598	NM_032608.7(MYO18B):c.16C>T (p.Arg6Cys)	MYO18B (R6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975827	NM_032608.7(MYO18B):c.17G>T (p.Arg6Leu)	MYO18B (R6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482876	NM_032608.7(MYO18B):c.17G>A (p.Arg6His)	MYO18B (R6H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447915	NM_032608.7(MYO18B):c.20T>G (p.Leu7Arg)	MYO18B (L7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1673380	NM_032608.7(MYO18B):c.21C>T (p.Leu7=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1359683	NM_032608.7(MYO18B):c.22G>A (p.Ala8Thr)	MYO18B (A8T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1913566	NM_032608.7(MYO18B):c.24C>T (p.Ala8=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448838	NM_032608.7(MYO18B):c.31G>T (p.Glu11Ter)	MYO18B (E11*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1922626	NM_032608.7(MYO18B):c.39+14A>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279814	NM_032608.7(MYO18B):c.39+46A>G	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291686	NM_032608.7(MYO18B):c.39+201T>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278433	NM_032608.7(MYO18B):c.39+211del	MYO18B	Deletion (intron variant)	not provided	GBenign
Select item 1256908	NM_032608.7(MYO18B):c.39+211G>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245502	NM_032608.7(MYO18B):c.39+216C>A	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287380	NM_032608.7(MYO18B):c.39+219G>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295960	NM_032608.7(MYO18B):c.39+249GGT[5]	MYO18B	Microsatellite (intron variant)	not provided	GBenign
Select item 1281393	NM_032608.7(MYO18B):c.40-288C>G	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3011070	NM_032608.7(MYO18B):c.40-15G>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947593	NM_032608.7(MYO18B):c.40-15G>A	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629366	NM_032608.7(MYO18B):c.40-8C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1383468	NM_032608.7(MYO18B):c.43C>T (p.Arg15Trp)	MYO18B (R15W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416588	NM_032608.7(MYO18B):c.44G>A (p.Arg15Gln)	MYO18B (R15Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602581	NM_032608.7(MYO18B):c.45G>A (p.Arg15=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933402	NM_032608.7(MYO18B):c.56A>G (p.Lys19Arg)	MYO18B (K19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505478	NM_032608.7(MYO18B):c.62C>T (p.Pro21Leu)	MYO18B (P21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870626	NM_032608.7(MYO18B):c.69A>G (p.Pro23=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665086	NM_032608.7(MYO18B):c.72C>T (p.Ser24=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604525	NM_032608.7(MYO18B):c.74C>T (p.Ser25Leu)	MYO18B (S25L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2201683	NM_032608.7(MYO18B):c.75G>A (p.Ser25=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2299221	NM_032608.7(MYO18B):c.77C>T (p.Pro26Leu)	MYO18B (P26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1963636	NM_032608.7(MYO18B):c.78C>T (p.Pro26=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474344	NM_032608.7(MYO18B):c.82C>T (p.Pro28Ser)	MYO18B (P28S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2075844	NM_032608.7(MYO18B):c.85C>T (p.Leu29Phe)	MYO18B (L29F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162878	NM_032608.7(MYO18B):c.95T>C (p.Val32Ala)	MYO18B (V32A)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1900660	NM_032608.7(MYO18B):c.97A>T (p.Ile33Phe)	MYO18B (I33F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334740	NM_032608.7(MYO18B):c.103G>T (p.Gly35Trp)	MYO18B (G35W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993299	NM_032608.7(MYO18B):c.104G>A (p.Gly35Glu)	MYO18B (G35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522973	NM_032608.7(MYO18B):c.107G>A (p.Gly36Asp)	MYO18B (G36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368990	NM_032608.7(MYO18B):c.112A>G (p.Ile38Val)	MYO18B (I38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2097796	NM_032608.7(MYO18B):c.118C>T (p.Gln40Ter)	MYO18B (Q40*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2022667	NM_032608.7(MYO18B):c.120A>C (p.Gln40His)	MYO18B (Q40H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404008	NM_032608.7(MYO18B):c.127C>T (p.Arg43Trp)	MYO18B (R43W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1347884	NM_032608.7(MYO18B):c.128G>A (p.Arg43Gln)	MYO18B (R43Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245085	NM_032608.7(MYO18B):c.131G>A (p.Gly44Glu)	MYO18B (G44E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2248348	NM_032608.7(MYO18B):c.136G>A (p.Glu46Lys)	MYO18B (E46K)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2706060	NM_032608.7(MYO18B):c.147C>A (p.Ala49=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669926	NM_032608.7(MYO18B):c.147C>T (p.Ala49=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549770	NM_032608.7(MYO18B):c.155C>T (p.Ala52Val)	MYO18B (A52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1657538	NM_032608.7(MYO18B):c.156G>A (p.Ala52=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946304	NM_032608.7(MYO18B):c.159A>T (p.Arg53Ser)	MYO18B (R53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3162234	NM_032608.7(MYO18B):c.162G>C (p.Gln54His)	MYO18B (Q54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324761	NM_032608.7(MYO18B):c.169C>T (p.Gln57Ter)	MYO18B (Q57*)	Single nucleotide variant (nonsense)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1414037	NM_032608.7(MYO18B):c.178G>C (p.Val60Leu)	MYO18B (V60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948612	NM_032608.7(MYO18B):c.180C>T (p.Val60=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449345	NM_032608.7(MYO18B):c.182C>T (p.Ala61Val)	MYO18B (A61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658406	NM_032608.7(MYO18B):c.185C>T (p.Ser62Phe)	MYO18B (S62F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2777618	NM_032608.7(MYO18B):c.188C>T (p.Pro63Leu)	MYO18B (P63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366039	NM_032608.7(MYO18B):c.194G>A (p.Arg65Gln)	MYO18B (R65Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438807	NM_032608.7(MYO18B):c.198+1G>T	MYO18B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1603286	NM_032608.7(MYO18B):c.198+17_198+19del	MYO18B	Microsatellite (intron variant)	not provided	GBenign
Select item 1182519	NM_032608.7(MYO18B):c.198+287A>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230636	NM_032608.7(MYO18B):c.199-258del	MYO18B	Deletion (intron variant)	not provided	GBenign
Select item 1268114	NM_032608.7(MYO18B):c.199-86T>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1926227	NM_032608.7(MYO18B):c.199-19G>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913539	NM_032608.7(MYO18B):c.199-14G>A	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246044	NM_032608.7(MYO18B):c.199-3C>T	MYO18B	Single nucleotide variant (intron variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GBenign
Select item 2084610	NM_032608.7(MYO18B):c.201C>T (p.Ile67=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099580	NM_032608.7(MYO18B):c.219C>T (p.Ser73=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774537	NM_032608.7(MYO18B):c.222A>G (p.Gln74=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1944933	NM_032608.7(MYO18B):c.228C>T (p.Asn76=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653480	NM_032608.7(MYO18B):c.249C>T (p.Thr83=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131721	NM_032608.7(MYO18B):c.254C>G (p.Ser85Cys)	MYO18B (S85C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1972926	NM_032608.7(MYO18B):c.267G>T (p.Gln89His)	MYO18B (Q89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736585	NM_032608.7(MYO18B):c.279C>T (p.Asp93=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065300	NM_032608.7(MYO18B):c.280G>A (p.Asp94Asn)	MYO18B (D94N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069110	NM_032608.7(MYO18B):c.293C>G (p.Ser98Cys)	MYO18B (S98C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922377	NM_032608.7(MYO18B):c.296C>T (p.Pro99Leu)	MYO18B (P99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2525937	NM_032608.7(MYO18B):c.307G>C (p.Asp103His)	MYO18B (D103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770474	NM_032608.7(MYO18B):c.309C>G (p.Asp103Glu)	MYO18B (D103E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1926283	NM_032608.7(MYO18B):c.310A>G (p.Ile104Val)	MYO18B (I104V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766996	NM_032608.7(MYO18B):c.314_315insC (p.Lys107fs)	MYO18B (K107fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2767021	NM_032608.7(MYO18B):c.315G>A (p.Leu105=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987305	NM_032608.7(MYO18B):c.318C>A (p.Gly106=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134788	NM_032608.7(MYO18B):c.323A>T (p.Glu108Val)	MYO18B (E108V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176393	NM_032608.7(MYO18B):c.327C>T (p.Ser109=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585126	NM_032608.7(MYO18B):c.328G>A (p.Glu110Lys)	MYO18B (E110K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2866678	NM_032608.7(MYO18B):c.336C>T (p.Ser112=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416132	NM_032608.7(MYO18B):c.337C>T (p.Arg113Cys)	MYO18B (R113C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1483032	NM_032608.7(MYO18B):c.338G>A (p.Arg113His)	MYO18B (R113H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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