4733[geneid] - ClinVar

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Items: 35

	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 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 982750	NM_004147.4(DRG1):c.43-1G>T	DRG1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 816815	NM_004147.4(DRG1):c.118C>T (p.Arg40Ter)	DRG1 (R40*)	Single nucleotide variant (nonsense)	Flexion contracture	GLikely pathogenic
Select item 2260257	NM_004147.4(DRG1):c.127A>G (p.Ile43Val)	DRG1 (I43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273765	NM_004147.4(DRG1):c.146G>C (p.Gly49Ala)	DRG1 (G49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664492	NM_004147.4(DRG1):c.160G>T (p.Gly54Ter)	DRG1 (G54*)	Single nucleotide variant (nonsense)	Tan-Almurshedi syndrome	GLikely pathogenic
Select item 3085806	NM_004147.4(DRG1):c.197G>A (p.Arg66Gln)	DRG1 (R66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664495	NM_004147.4(DRG1):c.418C>T (p.Arg140Ter)	DRG1 (R140*)	Single nucleotide variant (nonsense)	Tan-Almurshedi syndrome	GLikely pathogenic
Select item 3273766	NM_004147.4(DRG1):c.442G>A (p.Val148Ile)	DRG1 (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085807	NM_004147.4(DRG1):c.598C>A (p.Leu200Met)	DRG1 (L200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606296	NM_004147.4(DRG1):c.668G>A (p.Ser223Asn)	DRG1 (S223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664493	NM_004147.4(DRG1):c.742_743inv (p.Asn248Phe)	DRG1 (N248F)	Inversion (missense variant)	Tan-Almurshedi syndrome	GLikely pathogenic
Select item 2664494	NM_004147.4(DRG1):c.787A>T (p.Lys263Ter)	DRG1 (K263*)	Single nucleotide variant (nonsense)	Tan-Almurshedi syndrome	GLikely pathogenic
Select item 3085809	NM_004147.4(DRG1):c.943A>G (p.Arg315Gly)	DRG1 (R315G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295299	NM_004147.4(DRG1):c.1000A>G (p.Lys334Glu)	DRG1 (K334E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979603	GRCh37/hg19 22q12.2(chr22:31565901-32105115)x1	LIMK2, PISD +7 more	Copy number loss	not provided	GUncertain significance
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 686129	GRCh37/hg19 22q12.2-12.3(chr22:31748161-32659394)x3	C22orf42, DEPDC5 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 35