ClinVar for Gene (Select 117) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269849	NM_001118.5(ADCYAP1R1):c.170T>C (p.Met57Thr)	ADCYAP1R1 (M57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082646	NM_001118.5(ADCYAP1R1):c.857C>T (p.Thr286Met)	ADCYAP1R1 (T265M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082644	NM_001118.5(ADCYAP1R1):c.641A>G (p.Gln214Arg)	ADCYAP1R1 (Q193R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082635	NM_001118.5(ADCYAP1R1):c.533T>G (p.Phe178Cys)	ADCYAP1R1 (F157C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082627	NM_001118.5(ADCYAP1R1):c.520A>G (p.Ile174Val)	ADCYAP1R1 (I153V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082618	NM_001118.5(ADCYAP1R1):c.1303C>G (p.Leu435Val)	ADCYAP1R1 (L414V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082612	NM_001118.5(ADCYAP1R1):c.1294C>T (p.His432Tyr)	ADCYAP1R1 (H459Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082607	NM_001118.5(ADCYAP1R1):c.1058G>A (p.Arg353Gln)	ADCYAP1R1 (R332Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082602	NM_001118.5(ADCYAP1R1):c.1047-3076C>T	ADCYAP1R1 (R361W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082594	NM_001118.5(ADCYAP1R1):c.1018A>G (p.Met340Val)	ADCYAP1R1 (M340V +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 3062970	GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2609690	NM_001118.5(ADCYAP1R1):c.985G>T (p.Val329Phe)	ADCYAP1R1 (V308F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558171	NM_001118.5(ADCYAP1R1):c.556A>G (p.Asn186Asp)	ADCYAP1R1 (N165D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538091	NM_001118.5(ADCYAP1R1):c.371C>T (p.Ser124Leu)	ADCYAP1R1 (S103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518429	NM_001118.5(ADCYAP1R1):c.143A>G (p.Asn48Ser)	ADCYAP1R1 (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518272	NM_001118.5(ADCYAP1R1):c.1297C>G (p.Pro433Ala)	ADCYAP1R1 (P460A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518271	NM_001118.5(ADCYAP1R1):c.1296C>A (p.His432Gln)	ADCYAP1R1 (H411Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479535	NM_001118.5(ADCYAP1R1):c.1030G>A (p.Glu344Lys)	ADCYAP1R1 (E344K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463670	NM_001118.5(ADCYAP1R1):c.1292G>A (p.Arg431Gln)	ADCYAP1R1 (R410Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386245	NM_001118.5(ADCYAP1R1):c.895A>T (p.Met299Leu)	ADCYAP1R1 (M278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379953	NM_001118.5(ADCYAP1R1):c.550A>C (p.Thr184Pro)	ADCYAP1R1 (T184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211571	NM_001118.5(ADCYAP1R1):c.529C>T (p.Arg177Cys)	ADCYAP1R1 (R156C +1 more)	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 1809067	GRCh37/hg19 7p14.3(chr7:30567050-31415774)x3	ADCYAP1R1, AQP1 +6 more	Copy number gain	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 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 783492	NM_001118.5(ADCYAP1R1):c.52-6C>T	ADCYAP1R1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768144	NM_001118.5(ADCYAP1R1):c.186G>A (p.Thr62=)	ADCYAP1R1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 393728	GRCh37/hg19 7p14.3(chr7:30673441-31154672)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	See cases	GUncertain significance
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 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 150592	GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	ADCYAP1R1, AQP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 149526	GRCh38/hg38 7p14.3(chr7:31095071-31830903)x3	ADCYAP1R1, ITPRID1 +11 more	Copy number gain	See cases	GLikely benign
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	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 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 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

ClinVar

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Links from Gene

Items: 54