AQP1[gene] and "single gene"[properties] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 50