10842[geneid] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 149526	GRCh38/hg38 7p14.3(chr7:31095071-31830903)x3	ADCYAP1R1, ITPRID1 +11 more	Copy number gain	See cases	GLikely benign
Select item 403336	NM_006658.5(PPP1R17):c.29T>G (p.Leu10Arg)	PDE1C, PPP1R17 (L10R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2548365	NM_006658.5(PPP1R17):c.50T>C (p.Leu17Pro)	PDE1C, PPP1R17 (L17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309385	NM_006658.5(PPP1R17):c.53A>G (p.Asp18Gly)	PDE1C, PPP1R17 (D18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222682	NM_006658.5(PPP1R17):c.63C>A (p.Asp21Glu)	PDE1C, PPP1R17 (D21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340086	NM_006658.5(PPP1R17):c.169G>A (p.Glu57Lys)	PDE1C, PPP1R17 (E57K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia	GUncertain significance
Select item 2411879	NM_006658.5(PPP1R17):c.186A>C (p.Lys62Asn)	PDE1C, PPP1R17 (K62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335210	NM_006658.5(PPP1R17):c.233C>T (p.Pro78Leu)	PDE1C, PPP1R17 (P78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309386	NM_006658.5(PPP1R17):c.259A>G (p.Lys87Glu)	PDE1C, PPP1R17 (K36E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268207	NM_006658.5(PPP1R17):c.303C>G (p.Ile101Met)	PDE1C, PPP1R17 (I101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309387	NM_006658.5(PPP1R17):c.358C>T (p.Pro120Ser)	PDE1C, PPP1R17 (P69S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217538	NM_006658.5(PPP1R17):c.401T>C (p.Leu134Pro)	PDE1C, PPP1R17 (L83P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217539	NM_006658.5(PPP1R17):c.427G>A (p.Val143Met)	PDE1C, PPP1R17 (V92M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309384	NM_006658.5(PPP1R17):c.438C>A (p.Asp146Glu)	PDE1C, PPP1R17 (D146E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	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 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
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 686436	GRCh37/hg19 7p14.3(chr7:31681764-31921749)x3	ITPRID1, PDE1C +1 more	Copy number gain	not provided	GUncertain significance
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 563378	GRCh37/hg19 7p14.3(chr7:31039091-31858169)x1	ADCYAP1R1, PPP1R17 +3 more	Copy number loss	not provided	GUncertain significance
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 5861	PPP1R17, -1323T-C	PPP1R17	Single nucleotide variant	Hypercholesterolemia, susceptibility to	Grisk factor

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Items: 41