358[geneid] - ClinVar

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Items: 81

	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 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)	not specified	GUncertain significance
Select item 3128104	NM_198098.4(AQP1):c.29T>G (p.Phe10Cys)	AQP1 (F10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308937	NM_198098.4(AQP1):c.47C>T (p.Ala16Val)	AQP1 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527439	NM_198098.4(AQP1):c.62C>T (p.Thr21Met)	AQP1 (T21M)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 707973	NM_198098.4(AQP1):c.180C>T (p.Ile60=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128103	NM_198098.4(AQP1):c.185C>T (p.Thr62Met)	AQP1 (T62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2599749	NM_198098.4(AQP1):c.307G>C (p.Val103Leu)	AQP1 (V103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1593419	NM_198098.4(AQP1):c.319G>A (p.Val107Ile)	AQP1 (V107I)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	not specified	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)	not specified	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)	not provided	GBenign
Select item 2050892	NM_198098.4(AQP1):c.471C>T (p.Thr157=)	AQP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3308930	NM_198098.4(AQP1):c.476G>A (p.Arg159Gln)	AQP1 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	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)	not specified	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 3308936	NM_198098.4(AQP1):c.551T>C (p.Ile184Thr)	AQP1 (I184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3308940	NM_198098.4(AQP1):c.707G>T (p.Ser236Ile)	AQP1 (S236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277844	NM_198098.4(AQP1):c.772G>A (p.Asp258Asn)	AQP1 (D258N)	Single nucleotide variant (missense variant)	not specified	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 disorder	GLikely benign
Select item 3045599	NM_198098.4(AQP1):c.*229C>T	AQP1 (T274I)	Single nucleotide variant (missense variant +1 more)	AQP1-related disorder	GBenign
Select item 3042247	NM_198098.4(AQP1):c.*282C>T	AQP1 (R292C)	Single nucleotide variant (missense variant +1 more)	AQP1-related disorder	GLikely benign
Select item 3245829	NC_000007.13:g.(?_30054351)_(30963244_?)del	AQP1, CRHR2 +9 more	Deletion	Charcot-Marie-Tooth disease type 2	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 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 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 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	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

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Items: 81