ClinVar for Gene (Select 11130) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260188	NM_007057.4(ZWINT):c.43G>A (p.Val15Ile)	ZWINT (V15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260187	NM_007057.4(ZWINT):c.50C>T (p.Ala17Val)	ZWINT (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260186	NM_007057.4(ZWINT):c.693G>C (p.Glu231Asp)	ZWINT (E231D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199646	NM_007057.4(ZWINT):c.808C>T (p.Pro270Ser)	ZWINT (P223S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199645	NM_007057.4(ZWINT):c.755G>A (p.Gly252Glu)	ZWINT (G205E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199643	NM_007057.4(ZWINT):c.558C>G (p.Asp186Glu)	ZWINT (D186E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2611563	NM_007057.4(ZWINT):c.268A>G (p.Ile90Val)	LOC126860936, ZWINT (I90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602136	NM_007057.4(ZWINT):c.222G>C (p.Lys74Asn)	LOC126860936, ZWINT (K74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2558250	NM_007057.4(ZWINT):c.257G>A (p.Arg86Gln)	LOC126860936, ZWINT (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556840	NM_007057.4(ZWINT):c.383G>C (p.Arg128Pro)	LOC126860936, ZWINT (R128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528016	NM_007057.4(ZWINT):c.401C>T (p.Ala134Val)	LOC126860936, ZWINT (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517747	NM_007057.4(ZWINT):c.325G>T (p.Ala109Ser)	LOC126860936, ZWINT (A109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515450	NM_007057.4(ZWINT):c.413T>C (p.Leu138Pro)	LOC126860936, ZWINT (L138P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494697	NM_007057.4(ZWINT):c.604G>A (p.Glu202Lys)	ZWINT (E202K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406028	NM_007057.4(ZWINT):c.503C>T (p.Ala168Val)	ZWINT (A168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362722	NM_007057.4(ZWINT):c.719C>T (p.Pro240Leu)	ZWINT (P193L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349812	NM_007057.4(ZWINT):c.620A>G (p.Gln207Arg)	ZWINT (Q207R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334537	NM_007057.4(ZWINT):c.530G>A (p.Arg177His)	ZWINT (R177H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331310	NM_007057.4(ZWINT):c.743A>G (p.Glu248Gly)	ZWINT (E248G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328177	NM_007057.4(ZWINT):c.92A>G (p.Glu31Gly)	LOC126860936, ZWINT (E31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325169	NM_007057.4(ZWINT):c.111G>T (p.Lys37Asn)	LOC126860936, ZWINT (K37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270725	NM_007057.4(ZWINT):c.206A>T (p.Gln69Leu)	LOC126860936, ZWINT (Q69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261901	NM_007057.4(ZWINT):c.725A>C (p.Gln242Pro)	ZWINT (Q242P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218418	NM_007057.4(ZWINT):c.533A>C (p.Lys178Thr)	ZWINT (K178T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206246	NM_007057.4(ZWINT):c.689C>T (p.Ala230Val)	ZWINT (A183V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204648	NM_007057.4(ZWINT):c.438G>A (p.Met146Ile)	LOC126860936, ZWINT (M146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1340657	GRCh37/hg19 10q21.1(chr10:57983532-58173033)x1	ZWINT	Copy number loss	not provided	GLikely benign
Select item 980922	GRCh37/hg19 10q21.1(chr10:57590896-58861610)x3	ZWINT	Copy number gain	not provided	GLikely benign
Select item 815350	GRCh37/hg19 10q21.1(chr10:57969989-59123710)x1	ZWINT	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 790629	NM_007057.4(ZWINT):c.798T>C (p.Val266=)	ZWINT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715021	NM_007057.4(ZWINT):c.423+8C>T	LOC126860936, ZWINT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 563724	GRCh37/hg19 10q21.1(chr10:58066037-58321888)x1	ZWINT	Copy number loss	not provided	GLikely benign
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443843	GRCh37/hg19 10q21.1(chr10:55045347-58190685)x3	MTRNR2L5, PCDH15 +1 more	Copy number gain	See cases	GLikely benign
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 150846	GRCh38/hg38 10q21.1(chr10:53308026-56420041)x3	LOC105378311, LOC126860936 +8 more	Copy number gain	See cases	GLikely benign
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 148078	GRCh38/hg38 10q21.1(chr10:53366596-56420041)x4	LOC105378311, LOC126860936 +8 more	Copy number gain	See cases	GUncertain significance
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58725	GRCh38/hg38 10q21.1(chr10:54287239-57268543)x1	LOC105378311, LOC126860936 +10 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55