ClinVar for Gene (Select 27254) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269725	NM_014460.4(CSDC2):c.38C>T (p.Pro13Leu)	CSDC2 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3077957	NM_014460.4(CSDC2):c.99G>C (p.Arg33Ser)	CSDC2 (R33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077956	NM_014460.4(CSDC2):c.244C>T (p.His82Tyr)	CSDC2 (H82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077954	NM_014460.4(CSDC2):c.115G>A (p.Gly39Ser)	CSDC2 (G39S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2605124	NM_014460.4(CSDC2):c.332A>G (p.Asp111Gly)	CSDC2 (D111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604903	NM_014460.4(CSDC2):c.296C>T (p.Ser99Phe)	CSDC2 (S99F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2407638	NM_014460.4(CSDC2):c.127C>T (p.Arg43Trp)	CSDC2 (R43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396430	NM_014460.4(CSDC2):c.88G>A (p.Glu30Lys)	CSDC2 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354858	NM_014460.4(CSDC2):c.128G>A (p.Arg43Gln)	CSDC2 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330829	NM_014460.4(CSDC2):c.164G>C (p.Arg55Thr)	CSDC2 (R55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294107	NM_014460.4(CSDC2):c.17C>T (p.Thr6Met)	CSDC2 (T6M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	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 979607	GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1	MEI1, MIR33A +14 more	Copy number loss	not provided	GUncertain significance
Select item 816566	GRCh37/hg19 22q13.2(chr22:41871935-42026428)x1	ACO2, PMM1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	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 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565011	GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	NDUFA6, WBP2NL +21 more	Copy number gain	not provided	GLikely pathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 443784	GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	ACO2, CCDC134 +22 more	Copy number gain	See cases	GUncertain significance
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 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 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 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 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 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37