AQP12B[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606400	NM_001102467.2(AQP12B):c.893G>A (p.Arg298His)	AQP12B (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365862	NM_001102467.2(AQP12B):c.758G>A (p.Arg253His)	AQP12B (R253H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308992	NM_001102467.2(AQP12B):c.694G>A (p.Val232Met)	AQP12B (V232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377538	NM_001102467.2(AQP12B):c.690G>T (p.Glu230Asp)	AQP12B (E230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312586	NM_001102467.2(AQP12B):c.673G>A (p.Gly225Arg)	AQP12B (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128122	NM_001102467.2(AQP12B):c.671C>T (p.Ser224Leu)	AQP12B (S224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556004	NM_001102467.2(AQP12B):c.596C>A (p.Thr199Lys)	AQP12B (T199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486652	NM_001102467.2(AQP12B):c.562A>C (p.Ser188Arg)	AQP12B (S188R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396705	NM_001102467.2(AQP12B):c.556G>A (p.Ala186Thr)	AQP12B (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596549	NM_001102467.2(AQP12B):c.550C>A (p.Pro184Thr)	AQP12B (P184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531942	NM_001102467.2(AQP12B):c.511T>C (p.Phe171Leu)	AQP12B (F171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515779	NM_001102467.2(AQP12B):c.502G>A (p.Ala168Thr)	AQP12B (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353307	NM_001102467.2(AQP12B):c.470C>T (p.Thr157Ile)	AQP12B (T157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128121	NM_001102467.2(AQP12B):c.467G>C (p.Arg156Pro)	AQP12B (R156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128120	NM_001102467.2(AQP12B):c.467G>A (p.Arg156His)	AQP12B (R156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281720	NM_001102467.2(AQP12B):c.431A>C (p.Gln144Pro)	AQP12B (Q144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509814	NM_001102467.2(AQP12B):c.382C>G (p.Leu128Val)	AQP12B (L128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410239	NM_001102467.2(AQP12B):c.373G>A (p.Ala125Thr)	AQP12B (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243696	NM_001102467.2(AQP12B):c.364A>G (p.Met122Val)	AQP12B (M122V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309024	NM_001102467.2(AQP12B):c.332C>T (p.Thr111Met)	AQP12B (T111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371687	NM_001102467.2(AQP12B):c.332C>G (p.Thr111Arg)	AQP12B (T111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309003	NM_001102467.2(AQP12B):c.326C>T (p.Pro109Leu)	AQP12B (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278762	NM_001102467.2(AQP12B):c.325C>A (p.Pro109Thr)	AQP12B (P109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284765	NM_001102467.2(AQP12B):c.322C>G (p.Leu108Val)	AQP12B (L108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602573	NM_001102467.2(AQP12B):c.313G>A (p.Glu105Lys)	AQP12B (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128119	NM_001102467.2(AQP12B):c.308T>G (p.Met103Arg)	AQP12B (M103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309013	NM_001102467.2(AQP12B):c.290C>G (p.Ser97Cys)	AQP12B (S97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285430	NM_001102467.2(AQP12B):c.271T>C (p.Ser91Pro)	AQP12B (S91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390147	NM_001102467.2(AQP12B):c.268G>T (p.Ala90Ser)	AQP12B (A90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221014	NM_001102467.2(AQP12B):c.257C>A (p.Thr86Asn)	AQP12B (T86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362264	NM_001102467.2(AQP12B):c.245C>A (p.Ala82Glu)	AQP12B (A82E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128118	NM_001102467.2(AQP12B):c.244G>A (p.Ala82Thr)	AQP12B (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556003	NM_001102467.2(AQP12B):c.226C>T (p.Leu76Phe)	AQP12B (L76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357837	NM_001102467.2(AQP12B):c.194G>A (p.Gly65Glu)	AQP12B (G65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598716	NM_001102467.2(AQP12B):c.193G>C (p.Gly65Arg)	AQP12B (G65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335668	NM_001102467.2(AQP12B):c.181G>T (p.Gly61Trp)	AQP12B (G61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392823	NM_001102467.2(AQP12B):c.142G>A (p.Gly48Arg)	AQP12B (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128117	NM_001102467.2(AQP12B):c.122C>T (p.Ala41Val)	AQP12B (A41V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409539	NM_001102467.2(AQP12B):c.116G>A (p.Arg39Gln)	AQP12B (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393101	NM_001102467.2(AQP12B):c.113C>T (p.Ala38Val)	AQP12B (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596352	NM_001102467.2(AQP12B):c.112G>A (p.Ala38Thr)	AQP12B (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235096	NM_001102467.2(AQP12B):c.112G>T (p.Ala38Ser)	AQP12B (A38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221390	NM_001102467.2(AQP12B):c.111C>G (p.Phe37Leu)	AQP12B (F37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128123	NM_001102467.2(AQP12B):c.71C>T (p.Ala24Val)	AQP12B (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308987	NM_001102467.2(AQP12B):c.61G>T (p.Ala21Ser)	AQP12B (A21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128126	NM_001102467.2(AQP12B):c.8G>C (p.Gly3Ala)	AQP12B (G3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 393871	GRCh37/hg19 2q37.3(chr2:241617726-241626027)x3	AQP12B	Copy number gain	See cases	GBenign/Likely benign

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Items: 47