AQP1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +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 150592	GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3	ADCYAP1R1, AQP1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2490531	NM_198098.4(AQP1):c.20A>G (p.Lys7Arg)	AQP1 (K7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527439	NM_198098.4(AQP1):c.62C>T (p.Thr21Met)	AQP1 (T21M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1355897	NM_198098.4(AQP1):c.65C>A (p.Thr22Asn)	AQP1 (T22N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17847	NM_198098.4(AQP1):c.113C>T (p.Pro38Leu)	AQP1 (P38L)	Single nucleotide variant (missense variant)	Colton-null phenotype	GPathogenic
Select item 2704278	NM_198098.4(AQP1):c.114G>A (p.Pro38=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 17846	NM_198098.4(AQP1):c.134C>T (p.Ala45Val)	AQP1 (A45V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2746941	NM_198098.4(AQP1):c.140A>G (p.Gln47Arg)	AQP1 (Q47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374787	NM_198098.4(AQP1):c.148G>A (p.Val50Met)	AQP1 (V50M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707973	NM_198098.4(AQP1):c.180C>T (p.Ile60=)	AQP1	Single nucleotide variant (synonymous variant)	AQP1-related condition +1 more	GBenign
Select item 3014561	NM_198098.4(AQP1):c.186G>A (p.Thr62=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954931	NM_198098.4(AQP1):c.219C>T (p.Ala73=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271673	NM_198098.4(AQP1):c.283C>T (p.Leu95Phe)	AQP1 (L95F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599749	NM_198098.4(AQP1):c.307G>C (p.Val103Leu)	AQP1 (V103L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1593419	NM_198098.4(AQP1):c.319G>A (p.Val107Ile)	AQP1 (V107I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1589116	NM_198098.4(AQP1):c.320T>G (p.Val107Gly)	AQP1 (V107G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1569042	NM_198098.4(AQP1):c.321C>T (p.Val107=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1223959	NM_198098.4(AQP1):c.385-686G>A	AQP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2068529	NM_198098.4(AQP1):c.385-10T>A	AQP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2371714	NM_198098.4(AQP1):c.404C>T (p.Ser135Leu)	AQP1 (S135L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2848469	NM_198098.4(AQP1):c.405G>A (p.Ser135=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222237	NM_198098.4(AQP1):c.424G>A (p.Glu142Lys)	AQP1 (E142K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2883353	NM_198098.4(AQP1):c.453A>G (p.Leu151=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698447	NM_198098.4(AQP1):c.456C>T (p.Cys152=)	AQP1	Single nucleotide variant (synonymous variant)	AQP1-related condition +1 more	GBenign/Likely benign
Select item 2050892	NM_198098.4(AQP1):c.471C>T (p.Thr157=)	AQP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3019360	NM_198098.4(AQP1):c.485G>A (p.Arg162His)	AQP1 (R162H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623575	NM_198098.4(AQP1):c.490C>G (p.Leu164Val)	AQP1 (L164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1529003	NM_198098.4(AQP1):c.494G>A (p.Gly165Asp)	AQP1 (G165D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2615290	NM_198098.4(AQP1):c.496G>C (p.Gly166Arg)	AQP1 (G166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1584468	NM_198098.4(AQP1):c.549+12G>A	AQP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1966029	NM_198098.4(AQP1):c.549+14C>G	AQP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248409	NM_198098.4(AQP1):c.549+149G>C	AQP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1672049	NM_198098.4(AQP1):c.550-21_550-18del	AQP1	Deletion (intron variant)	not provided	GBenign
Select item 2788025	NM_198098.4(AQP1):c.566_577dup (p.Asn192_Pro193insArgGlyIleAsn)	AQP1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2724220	NM_198098.4(AQP1):c.582T>A (p.Ala194=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020394	NM_198098.4(AQP1):c.630+19del	AQP1	Deletion (intron variant)	not provided	GBenign
Select item 1673528	NM_198098.4(AQP1):c.631-18C>T	AQP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988651	NM_198098.4(AQP1):c.631-12C>T	AQP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1563521	NM_198098.4(AQP1):c.631-11T>A	AQP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2277844	NM_198098.4(AQP1):c.772G>A (p.Asp258Asn)	AQP1 (D258N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712188	NM_198098.4(AQP1):c.774C>T (p.Asp258=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1267540	NM_198098.4(AQP1):c.*56AGGGG[3]	AQP1	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3034285	NM_198098.4(AQP1):c.*209G>A	AQP1	Single nucleotide variant (synonymous variant +1 more)	AQP1-related condition	GLikely benign
Select item 3045599	NM_198098.4(AQP1):c.*229C>T	AQP1 (T274I)	Single nucleotide variant (missense variant +1 more)	AQP1-related condition	GBenign
Select item 3042247	NM_198098.4(AQP1):c.*282C>T	AQP1 (R292C)	Single nucleotide variant (missense variant +1 more)	AQP1-related condition	GLikely benign
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 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 1680631	NC_000007.13:g.(?_30655492)_(31018859_?)dup	AQP1, CRHR2 +4 more	Duplication	Charcot-Marie-Tooth disease type 2	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	AQP1, CRHR2 +10 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	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 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 74