ClinVar for Gene (Select 51622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315551	NM_173565.5(RSPH10B):c.2557G>A (p.Asp853Asn)	CCZ1, RSPH10B (D853N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315549	NM_173565.5(RSPH10B):c.2478C>G (p.Asp826Glu)	CCZ1, RSPH10B (D826E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315548	NM_173565.5(RSPH10B):c.2539C>A (p.Leu847Met)	CCZ1, RSPH10B (L847M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264692	NM_015622.6(CCZ1):c.1101G>C (p.Met367Ile)	CCZ1 (M367I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264691	NM_015622.6(CCZ1):c.1408C>G (p.Leu470Val)	CCZ1 (L470V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264690	NM_015622.6(CCZ1):c.1418C>T (p.Thr473Met)	CCZ1 (T473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245662	NC_000007.13:g.(?_5900029)_(6018317_?)del	CCZ1, OCM +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3156680	NM_173565.5(RSPH10B):c.2465C>T (p.Ala822Val)	CCZ1, RSPH10B (A822V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140242	NM_015622.6(CCZ1):c.899A>G (p.Lys300Arg)	CCZ1 (K300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140241	NM_015622.6(CCZ1):c.898A>C (p.Lys300Gln)	CCZ1 (K300Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140240	NM_015622.6(CCZ1):c.871G>A (p.Asp291Asn)	CCZ1 (D291N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140238	NM_015622.6(CCZ1):c.62C>T (p.Pro21Leu)	CCZ1 (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140237	NM_015622.6(CCZ1):c.590C>T (p.Pro197Leu)	CCZ1 (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140236	NM_015622.6(CCZ1):c.430A>G (p.Met144Val)	CCZ1 (M144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140235	NM_015622.6(CCZ1):c.1355T>C (p.Ile452Thr)	CCZ1 (I452T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140234	NM_015622.6(CCZ1):c.1066G>A (p.Asp356Asn)	CCZ1 (D356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140232	NM_015622.6(CCZ1):c.1019G>A (p.Arg340Gln)	CCZ1 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657293	NM_015622.6(CCZ1):c.1035C>T (p.Ile345=)	CCZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607075	NM_015622.6(CCZ1):c.303G>C (p.Trp101Cys)	CCZ1 (W101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605362	NM_015622.6(CCZ1):c.663A>C (p.Lys221Asn)	CCZ1 (K221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597645	NM_015622.6(CCZ1):c.806G>A (p.Arg269Lys)	CCZ1 (R269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557326	NM_015622.6(CCZ1):c.923C>T (p.Thr308Ile)	CCZ1 (T308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496549	NM_015622.6(CCZ1):c.700A>G (p.Ser234Gly)	CCZ1 (S234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492783	NM_015622.6(CCZ1):c.776C>G (p.Pro259Arg)	CCZ1 (P259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476220	NM_015622.6(CCZ1):c.626T>G (p.Phe209Cys)	CCZ1 (F209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423253	NC_000007.13:g.(?_5834270)_(6018235_?)del	CCZ1, OCM +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2386343	NM_015622.6(CCZ1):c.1435T>A (p.Phe479Ile)	CCZ1 (F479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386036	NM_173565.5(RSPH10B):c.2482G>A (p.Glu828Lys)	CCZ1, RSPH10B (E828K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385362	NM_173565.5(RSPH10B):c.2485G>A (p.Val829Met)	CCZ1, RSPH10B (V829M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372414	NM_015622.6(CCZ1):c.11C>T (p.Ala4Val)	CCZ1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368869	NM_015622.6(CCZ1):c.316G>A (p.Val106Ile)	CCZ1 (V106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366059	NM_015622.6(CCZ1):c.1054G>A (p.Val352Met)	CCZ1 (V352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363793	NM_173565.5(RSPH10B):c.2510C>T (p.Pro837Leu)	CCZ1, RSPH10B (P837L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350813	NM_015622.6(CCZ1):c.290A>G (p.Glu97Gly)	CCZ1 (E97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350714	NM_015622.6(CCZ1):c.1286T>C (p.Ile429Thr)	CCZ1 (I429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349779	NM_015622.6(CCZ1):c.281A>G (p.Asn94Ser)	CCZ1 (N94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348832	NM_015622.6(CCZ1):c.1228A>T (p.Met410Leu)	CCZ1 (M410L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348789	NM_173565.5(RSPH10B):c.2580C>G (p.Ser860Arg)	CCZ1, RSPH10B (S860R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345518	NM_015622.6(CCZ1):c.251T>C (p.Leu84Ser)	CCZ1 (L84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324599	NM_015622.6(CCZ1):c.1421A>C (p.Gln474Pro)	CCZ1 (Q474P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310019	NM_015622.6(CCZ1):c.947T>C (p.Val316Ala)	CCZ1 (V316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305970	NM_015622.6(CCZ1):c.373C>G (p.Gln125Glu)	CCZ1 (Q125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298283	NM_015622.6(CCZ1):c.671C>T (p.Ala224Val)	CCZ1 (A224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249887	NM_015622.6(CCZ1):c.752C>A (p.Ser251Tyr)	CCZ1 (S251Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241650	NM_173565.5(RSPH10B):c.2495C>T (p.Thr832Ile)	CCZ1, RSPH10B (T832I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210871	NM_015622.6(CCZ1):c.535C>G (p.Leu179Val)	CCZ1 (L179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1809360	GRCh37/hg19 7p22.1(chr7:5907660-6483282)x3	AIMP2, CCZ1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808353	GRCh37/hg19 7p22.1(chr7:5832633-6065236)x1	AIMP2, CCZ1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1723215	Single allele	AIMP2, CCZ1 +4 more	Deletion	Lynch syndrome 1	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1696458	Single allele	AIMP2, CCZ1 +14 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 980260	GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3	DAGLB, EIF2AK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 980257	GRCh37/hg19 7p22.1(chr7:5676440-5965440)x3	CCZ1, OCM +1 more	Copy number gain	not provided	GUncertain significance
Select item 980256	GRCh37/hg19 7p22.1(chr7:5838734-5940027)x1	CCZ1, OCM	Copy number loss	not provided	GLikely benign
Select item 980255	GRCh37/hg19 7p22.1(chr7:5868442-5950019)x1	CCZ1, OCM	Copy number loss	not provided	GLikely benign
Select item 814922	GRCh37/hg19 7p22.1(chr7:5749102-6055706)x3	AIMP2, CCZ1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 813255	GRCh37/hg19 7p22.1(chr7:5702085-5949898)x1	RNF216, CCZ1 +1 more	Copy number gain	global hypotonia	GUncertain significance
Select item 769704	NM_015622.6(CCZ1):c.994G>A (p.Val332Ile)	CCZ1 (V332I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768138	NM_015622.6(CCZ1):c.1394-5T>C	CCZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688102	GRCh37/hg19 7p22.1(chr7:5606650-6185838)x3	AIMP2, CCZ1 +7 more	Copy number gain	not provided	GPathogenic
Select item 687579	GRCh37/hg19 7p22.1(chr7:5759704-6055929)x3	AIMP2, CCZ1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687340	GRCh37/hg19 7p22.1(chr7:5749018-6065236)x3	AIMP2, CCZ1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685553	GRCh37/hg19 7p22.1(chr7:5868560-6480658)x3	AIMP2, CCZ1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 685097	GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3	WIPI2, ACTB +13 more	Copy number gain	not provided	GPathogenic
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563347	GRCh37/hg19 7p22.1(chr7:5606650-5974130)x3	RNF216, RSPH10B +3 more	Copy number gain	not provided	GLikely pathogenic
Select item 563343	GRCh37/hg19 7p22.1(chr7:5706398-6052556)x3	AIMP2, CCZ1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 394587	GRCh37/hg19 7p22.1(chr7:5799660-5944692)x3	CCZ1, OCM +1 more	Copy number gain	See cases	GLikely benign
Select item 394474	GRCh37/hg19 7p22.1(chr7:5862847-5944692)x1	CCZ1, OCM	Copy number loss	See cases	GBenign
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 152010	GRCh38/hg38 7p22.1(chr7:5905831-5981100)x3	CCZ1, LOC106783574 +2 more	Copy number gain	See cases	GLikely benign
Select item 151080	GRCh38/hg38 7p22.1(chr7:5905831-5925893)x3	CCZ1, LOC106783574	Copy number gain	See cases	GUncertain significance
Select item 151061	GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3	AIMP2, CCZ1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	ACTB, AIMP2 +78 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic

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