JAZF1[gene] - ClinVar

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Items: 39

	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 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	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 2492686	NM_175061.4(JAZF1):c.695C>T (p.Pro232Leu)	JAZF1 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608421	NM_175061.4(JAZF1):c.488T>C (p.Met163Thr)	JAZF1 (M163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112230	NM_175061.4(JAZF1):c.433G>A (p.Asp145Asn)	JAZF1 (D145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521850	NM_175061.4(JAZF1):c.312C>A (p.Ser104Arg)	JAZF1 (S104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402809	NM_175061.4(JAZF1):c.251T>C (p.Leu84Pro)	JAZF1 (L84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306298	NM_175061.4(JAZF1):c.128G>A (p.Arg43Gln)	JAZF1 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263025	NM_175061.4(JAZF1):c.117T>A (p.Asp39Glu)	JAZF1 (D39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287219	NM_175061.4(JAZF1):c.115+30671A>G	JAZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3245865	NC_000007.13:g.(?_26232136)_(28172587_?)del	CBX3, EVX1 +22 more	Deletion	not provided	GPathogenic
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
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 1808748	GRCh37/hg19 7p15.2-15.1(chr7:26418391-28323299)x3	EVX1, HIBADH +19 more	Copy number gain	not provided	GUncertain significance
Select item 1808022	GRCh37/hg19 7p15.2-15.1(chr7:27591948-28096955)x1	HIBADH, JAZF1 +1 more	Copy number loss	not provided	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 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 1340835	GRCh37/hg19 7p15.2-15.1(chr7:27902401-28202571)x3	JAZF1	Copy number gain	not provided	GUncertain significance
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 687309	GRCh37/hg19 7p15.2-15.1(chr7:27856093-28475166)x3	CREB5, JAZF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 563311	GRCh37/hg19 7p15.2-15.1(chr7:27924232-28080968)x1	JAZF1	Copy number loss	not provided	GUncertain significance
Select item 443816	GRCh37/hg19 7p15.2-14.3(chr7:27720090-29219094)x3	CPVL, CREB5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	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 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

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Items: 39