ClinVar for Gene (Select 5814) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 3149822	NM_033224.5(PURB):c.641G>C (p.Gly214Ala)	PURB (G214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149821	NM_033224.5(PURB):c.389A>G (p.Lys130Arg)	PURB (K130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2608441	NM_033224.5(PURB):c.343C>T (p.Pro115Ser)	PURB (P115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554710	NM_033224.5(PURB):c.76G>A (p.Gly26Ser)	PURB (G26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458900	NM_033224.5(PURB):c.482C>T (p.Pro161Leu)	PURB (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393824	NM_033224.5(PURB):c.608G>T (p.Gly203Val)	PURB (G203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388261	NM_033224.5(PURB):c.32G>A (p.Gly11Asp)	PURB (G11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330862	NM_033224.5(PURB):c.641G>A (p.Gly214Asp)	PURB (G214D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318777	NM_033224.5(PURB):c.277C>T (p.His93Tyr)	PURB (H93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306488	NM_033224.5(PURB):c.65C>T (p.Ala22Val)	PURB (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289805	NM_033224.5(PURB):c.221C>T (p.Thr74Met)	PURB (T74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252445	NM_033224.5(PURB):c.77G>A (p.Gly26Asp)	PURB (G26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205734	NM_033224.5(PURB):c.625G>T (p.Gly209Trp)	PURB (G209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527358	GRCh37/hg19 7p13(chr7:44765589-45364793)	CCM2, H2AZ2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	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 563341	GRCh37/hg19 7p13(chr7:44620163-44961185)x3	PPIA, PURB +4 more	Copy number gain	not provided	GUncertain significance
Select item 443181	GRCh37/hg19 7p13(chr7:44688036-45364793)x3	CCM2, H2AZ2 +10 more	Copy number gain	See cases	GLikely benign
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 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 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 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 151519	GRCh38/hg38 7p13(chr7:44345798-45076469)x3	CCM2, DDX56 +58 more	Copy number gain	See cases	GUncertain significance
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	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 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41