ClinVar for Gene (Select 339669) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267420	NM_001163857.2(CIMIP4):c.383A>C (p.Gln128Pro)	CIMIP4 (Q128P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267419	NM_001163857.2(CIMIP4):c.617G>A (p.Arg206Gln)	CIMIP4 (R121Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267418	NM_001163857.2(CIMIP4):c.326C>T (p.Ser109Leu)	CIMIP4 (S109L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267417	NM_001163857.2(CIMIP4):c.176A>G (p.Gln59Arg)	CIMIP4 (Q59R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3235389	NM_001163857.2(CIMIP4):c.92C>T (p.Ala31Val)	CIMIP4 (A31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235388	NM_001163857.2(CIMIP4):c.801G>T (p.Glu267Asp)	CIMIP4 (E182D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235386	NM_001163857.2(CIMIP4):c.593A>T (p.Tyr198Phe)	CIMIP4 (Y113F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235385	NM_001163857.2(CIMIP4):c.512T>C (p.Val171Ala)	CIMIP4 (V171A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3235384	NM_001163857.2(CIMIP4):c.323C>T (p.Thr108Ile)	CIMIP4 (T108I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235383	NM_001163857.2(CIMIP4):c.289G>T (p.Gly97Cys)	CIMIP4 (G12C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235382	NM_001163857.2(CIMIP4):c.287C>T (p.Ala96Val)	CIMIP4 (A11V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235381	NM_001163857.2(CIMIP4):c.199C>G (p.His67Asp)	CIMIP4 (H67D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235380	NM_001163857.2(CIMIP4):c.16G>A (p.Gly6Arg)	CIMIP4 (G6R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3235379	NM_001163857.2(CIMIP4):c.121T>C (p.Phe41Leu)	CIMIP4 (F41L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496199	NM_001163857.2(CIMIP4):c.217C>T (p.Pro73Ser)	CIMIP4 (P73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471283	NM_001163857.2(CIMIP4):c.580G>A (p.Val194Ile)	CIMIP4 (V194I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467818	NM_001163857.2(CIMIP4):c.577T>G (p.Ser193Ala)	CIMIP4 (S108A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462042	NM_001163857.2(CIMIP4):c.632G>A (p.Arg211Gln)	CIMIP4 (R126Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461001	NM_001163857.2(CIMIP4):c.616C>T (p.Arg206Trp)	CIMIP4 (R206W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423021	NC_000022.10:g.(?_37334044)_(37400371_?)del	CIMIP4, CSF2RB	Deletion	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2399117	NM_001163857.2(CIMIP4):c.748C>T (p.Arg250Trp)	CIMIP4 (R165W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375857	NM_001163857.2(CIMIP4):c.398C>T (p.Thr133Met)	CIMIP4 (T133M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373836	NM_001163857.2(CIMIP4):c.812A>T (p.Glu271Val)	CIMIP4 (E186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367006	NM_001163857.2(CIMIP4):c.780C>G (p.Asn260Lys)	CIMIP4 (N175K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2335885	NM_001163857.2(CIMIP4):c.466G>A (p.Asp156Asn)	CIMIP4 (D156N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328061	NM_001163857.2(CIMIP4):c.361G>A (p.Asp121Asn)	CIMIP4 (D121N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324701	NM_001163857.2(CIMIP4):c.109G>A (p.Asp37Asn)	CIMIP4 (D37N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322879	NM_001163857.2(CIMIP4):c.818G>A (p.Ser273Asn)	CIMIP4 (S273N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313940	NM_001163857.2(CIMIP4):c.832T>G (p.Ser278Ala)	CIMIP4 (S193A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276135	NM_001163857.2(CIMIP4):c.36C>G (p.Phe12Leu)	CIMIP4 (F12L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2207340	NM_001163857.2(CIMIP4):c.34T>G (p.Phe12Val)	CIMIP4 (F12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1372877	NC_000022.10:g.(?_37257214)_(37414773_?)dup	CIMIP4, CSF2RB +2 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	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 816224	GRCh37/hg19 22q12.3(chr22:37333935-37396733)x1	TEX33, CSF2RB	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 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	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 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 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 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 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 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 53