ClinVar for Gene (Select 9541) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145125	NM_004882.4(CIR1):c.991A>G (p.Lys331Glu)	CIR1 (K331E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145124	NM_004882.4(CIR1):c.931G>T (p.Asp311Tyr)	CIR1 (D311Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145122	NM_004882.4(CIR1):c.466G>A (p.Val156Ile)	CIR1 (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145121	NM_004882.4(CIR1):c.1231C>G (p.Pro411Ala)	CIR1 (P411A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145120	NM_004882.4(CIR1):c.1163G>A (p.Arg388Gln)	CIR1 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145119	NM_004882.4(CIR1):c.1087A>G (p.Lys363Glu)	CIR1 (K363E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145118	NM_004882.4(CIR1):c.1078A>G (p.Arg360Gly)	CIR1 (R360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681725	NM_004882.4(CIR1):c.1226G>A (p.Arg409Gln)	CIR1 (R409Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559229	NM_004882.4(CIR1):c.952C>T (p.Leu318Phe)	CIR1 (L318F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553341	NM_004882.4(CIR1):c.1034G>C (p.Arg345Thr)	CIR1 (R345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545230	NM_004882.4(CIR1):c.1108G>A (p.Gly370Ser)	CIR1 (G370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528152	NM_004882.4(CIR1):c.608A>T (p.Glu203Val)	CIR1 (E203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523356	NM_004882.4(CIR1):c.916G>A (p.Asp306Asn)	CIR1 (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521727	NM_004882.4(CIR1):c.765T>G (p.His255Gln)	CIR1 (H255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466882	NM_004882.4(CIR1):c.134A>C (p.Gln45Pro)	CIR1 (Q45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343076	NM_004882.4(CIR1):c.864A>T (p.Lys288Asn)	CIR1 (K288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322926	NM_004882.4(CIR1):c.1162C>T (p.Arg388Trp)	CIR1 (R388W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293710	NM_004882.4(CIR1):c.49G>T (p.Ala17Ser)	CIR1 (A17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283200	NM_004882.4(CIR1):c.251A>G (p.Glu84Gly)	CIR1 (E84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269459	NM_004882.4(CIR1):c.517G>A (p.Glu173Lys)	CIR1 (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264908	NM_004882.4(CIR1):c.611G>T (p.Gly204Val)	CIR1 (G204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239969	NM_004882.4(CIR1):c.840T>A (p.Ser280Arg)	CIR1 (S280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218252	NM_004882.4(CIR1):c.594G>C (p.Glu198Asp)	CIR1 (E198D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526935	GRCh37/hg19 2q31.1(chr2:174573334-175268147)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526934	GRCh37/hg19 2q31.1(chr2:174562039-175276727)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814346	GRCh37/hg19 2q31.1(chr2:174562000-175276727)x1	CIR1, OLA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 814344	GRCh37/hg19 2q31.1(chr2:173865202-175428639)x1	CDCA7, CIR1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 443305	GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1	ATF2, ATP5MC3 +10 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 253337	GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1	ATF2, ATP5MC3 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 154811	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1	ATF2, ATP5MC3 +66 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 150325	GRCh38/hg38 2q31.1(chr2:174343200-174549848)x1	CIR1, GPR155 +5 more	Copy number loss	See cases	GUncertain significance
Select item 149687	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3	ATF2, ATP5MC3 +66 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 58768	GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1	ATF2, ATP5MC3 +68 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	GPR155, GPR155-DT +159 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

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Links from Gene

Items: 59