RSPH10B[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 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 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 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 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
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 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
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 1696458	Single allele	AIMP2, CCZ1 +14 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 152010	GRCh38/hg38 7p22.1(chr7:5905831-5981100)x3	CCZ1, LOC106783574 +2 more	Copy number gain	See cases	GLikely benign
Select item 151061	GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3	AIMP2, CCZ1 +5 more	Copy number gain	See cases	GUncertain significance
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 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 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 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 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 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 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 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 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 2394907	NM_173565.5(RSPH10B):c.2429C>T (p.Ala810Val)	RSPH10B (A810V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597765	NM_173565.5(RSPH10B):c.2402G>A (p.Arg801Gln)	RSPH10B (R801Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388802	NM_173565.5(RSPH10B):c.2320T>G (p.Phe774Val)	RSPH10B (F774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596766	NM_173565.5(RSPH10B):c.2300T>C (p.Val767Ala)	RSPH10B (V767A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341420	NM_173565.5(RSPH10B):c.2299G>A (p.Val767Ile)	RSPH10B (V767I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258182	NM_173565.5(RSPH10B):c.2270A>C (p.Glu757Ala)	RSPH10B (E757A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156679	NM_173565.5(RSPH10B):c.2243A>G (p.Glu748Gly)	RSPH10B (E748G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156678	NM_173565.5(RSPH10B):c.1912A>G (p.Ile638Val)	RSPH10B (I638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455464	NM_173565.5(RSPH10B):c.1724C>T (p.Thr575Met)	RSPH10B (T575M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478292	NM_173565.5(RSPH10B):c.1681C>T (p.Leu561Phe)	RSPH10B (L561F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156677	NM_173565.5(RSPH10B):c.1648A>G (p.Met550Val)	RSPH10B (M550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156682	NM_173565.5(RSPH10B):c.760C>T (p.Arg254Trp)	RSPH10B (R254W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379008	NM_173565.5(RSPH10B):c.712G>A (p.Gly238Arg)	RSPH10B (G238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327910	NM_173565.5(RSPH10B):c.686G>A (p.Gly229Asp)	RSPH10B (G229D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315547	NM_173565.5(RSPH10B):c.679T>C (p.Tyr227His)	RSPH10B (Y227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603931	NM_173565.5(RSPH10B):c.613G>C (p.Glu205Gln)	RSPH10B (E205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156681	NM_173565.5(RSPH10B):c.527C>A (p.Pro176His)	RSPH10B (P176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615912	NM_173565.5(RSPH10B):c.239A>C (p.Lys80Thr)	RSPH10B (K80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347263	NM_173565.5(RSPH10B):c.80A>G (p.Asp27Gly)	RSPH10B (D27G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2218141	NM_173565.5(RSPH10B):c.49C>T (p.Arg17Cys)	RSPH10B (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315552	NM_173565.5(RSPH10B):c.35G>A (p.Gly12Glu)	RSPH10B (G12E)	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 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance
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 2423253	NC_000007.13:g.(?_5834270)_(6018235_?)del	CCZ1, OCM +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
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 980260	GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3	DAGLB, EIF2AK1 +16 more	Copy number gain	not provided	GUncertain significance
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 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 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 85