ClinVar for Gene (Select 223082) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199178	NM_147128.4(ZNRF2):c.44C>T (p.Thr15Met)	LOC105375218, LOC129998186 +1 more (T15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199177	NM_147128.4(ZNRF2):c.379G>A (p.Gly127Ser)	LOC105375218, LOC129998188 +1 more (G127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199176	NM_147128.4(ZNRF2):c.293A>G (p.Gln98Arg)	LOC105375218, ZNRF2 (Q98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199175	NM_147128.4(ZNRF2):c.203C>T (p.Ala68Val)	LOC105375218, LOC129998187 +1 more (A68V)	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 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 2657367	NM_147128.4(ZNRF2):c.201G>C (p.Ala67=)	LOC105375218, LOC129998187 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609005	NM_147128.4(ZNRF2):c.518A>G (p.Asp173Gly)	ZNRF2 (D173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570286	NM_147128.4(ZNRF2):c.533T>C (p.Met178Thr)	ZNRF2 (M178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534808	NM_147128.4(ZNRF2):c.298C>A (p.Pro100Thr)	LOC105375218, ZNRF2 (P100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531068	NM_147128.4(ZNRF2):c.182C>A (p.Ala61Asp)	LOC105375218, LOC129998187 +1 more (A61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522010	NM_147128.4(ZNRF2):c.266G>C (p.Ser89Thr)	LOC105375218, ZNRF2 (S89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302284	NM_147128.4(ZNRF2):c.85G>C (p.Gly29Arg)	LOC105375218, ZNRF2 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277029	NM_147128.4(ZNRF2):c.304A>G (p.Ser102Gly)	LOC105375218, ZNRF2 (S102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206629	NM_147128.4(ZNRF2):c.287C>A (p.Ala96Glu)	LOC105375218, ZNRF2 (A96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204166	NM_147128.4(ZNRF2):c.329C>A (p.Pro110Gln)	LOC105375218, ZNRF2 (P110Q)	Single nucleotide variant (missense variant)	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 1527346	GRCh37/hg19 7p14.3(chr7:30404217-30782235)	CRHR2, GARS1 +3 more	Copy number gain	not specified	GUncertain significance
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 1401428	NC_000007.13:g.(?_30054351)_(31018859_?)dup	CRHR2, AQP1 +10 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	GUncertain significance
Select item 979761	GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	GHRHR, GGCT +13 more	Copy number gain	not provided	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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	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 441970	GRCh37/hg19 7p14.3(chr7:29751912-30452918)x3	FKBP14, MTURN +4 more	Copy number gain	See cases	GUncertain significance
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 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 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

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Links from Gene

Items: 41