ClinVar for Gene (Select 7533) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062346	GRCh38/hg38 22q12.2-12.3(chr22:31684443-31987722)	DEPDC5, LINC02558 +14 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3024621	GRCh37/hg19 22q12.2-12.3(chr22:32160961-32363977)x1	DEPDC5, YWHAH +1 more	Copy number loss	not provided	GPathogenic
Select item 2476073	NM_003405.4(YWHAH):c.11G>A (p.Arg4Gln)	YWHAH, YWHAH-AS1 (R4Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455271	NM_003405.4(YWHAH):c.701C>T (p.Thr234Met)	YWHAH (T234M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406647	NM_003405.4(YWHAH):c.608A>C (p.Asp203Ala)	YWHAH (D203A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335575	NM_003405.4(YWHAH):c.680G>A (p.Arg227Gln)	YWHAH (R227Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 1411277	NC_000022.10:g.(?_32232938)_(34157463_?)dup	BPIFC, C22orf42 +13 more	Duplication	Muscular dystrophy-dystroglycanopathy type B6	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 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	AP1B1, ASCC2 +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)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +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
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	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

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Links from Gene

Items: 25