ClinVar for Gene (Select 114904) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135799	NM_031910.4(C1QTNF6):c.673G>A (p.Glu225Lys)	C1QTNF6 (E225K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135798	NM_031910.4(C1QTNF6):c.596G>A (p.Ser199Asn)	C1QTNF6 (S180N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135797	NM_031910.4(C1QTNF6):c.541G>A (p.Gly181Ser)	C1QTNF6 (G162S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135796	NM_031910.4(C1QTNF6):c.497A>G (p.Glu166Gly)	C1QTNF6 (E147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135795	NM_031910.4(C1QTNF6):c.163G>A (p.Gly55Ser)	C1QTNF6 (G36S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613723	NM_031910.4(C1QTNF6):c.329A>T (p.Tyr110Phe)	C1QTNF6 (Y110F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603797	NM_031910.4(C1QTNF6):c.338G>A (p.Arg113Lys)	C1QTNF6 (R113K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547231	NM_031910.4(C1QTNF6):c.488T>C (p.Leu163Pro)	C1QTNF6 (L163P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545827	NM_031910.4(C1QTNF6):c.472G>A (p.Glu158Lys)	C1QTNF6 (E139K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536505	NM_031910.4(C1QTNF6):c.19C>T (p.Arg7Cys)	C1QTNF6 (R7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520675	NM_031910.4(C1QTNF6):c.646G>A (p.Ala216Thr)	C1QTNF6 (A197T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489690	NM_031910.4(C1QTNF6):c.127A>G (p.Met43Val)	C1QTNF6 (M24V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465639	NM_031910.4(C1QTNF6):c.757C>T (p.Arg253Cys)	C1QTNF6 (R234C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	H1-0, IFT27 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2390653	NM_031910.4(C1QTNF6):c.685A>G (p.Met229Val)	C1QTNF6 (M229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335697	NM_031910.4(C1QTNF6):c.268A>G (p.Ile90Val)	C1QTNF6 (I71V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314061	NM_031910.4(C1QTNF6):c.563G>A (p.Arg188His)	C1QTNF6 (R169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295297	NM_031910.4(C1QTNF6):c.192C>A (p.Asp64Glu)	C1QTNF6 (D45E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275035	NM_031910.4(C1QTNF6):c.409G>A (p.Ala137Thr)	C1QTNF6 (A118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239058	NM_031910.4(C1QTNF6):c.832G>A (p.Asp278Asn)	C1QTNF6 (D259N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225782	NM_031910.4(C1QTNF6):c.114G>T (p.Met38Ile)	C1QTNF6 (M38I +1 more)	Single nucleotide variant (missense variant)	not specified	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 774971	NM_031910.4(C1QTNF6):c.276C>T (p.Ile92=)	C1QTNF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715888	NM_031910.4(C1QTNF6):c.90A>G (p.Ala30=)	C1QTNF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 221894	GRCh37/hg19 22q12.3-13.1(chr22:37485062-37618530)x3	C1QTNF6, IL2RB +2 more	Copy number gain	Premature ovarian failure	GUncertain significance
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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 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
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 45