359[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 880950	NM_000486.6(AQP2):c.-93G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 880951	NM_000486.6(AQP2):c.-75G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309230	NM_000486.6(AQP2):c.-75G>T	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 880952	NM_000486.6(AQP2):c.-65G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 309231	NM_000486.6(AQP2):c.-60C>T	AQP2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 882310	NM_000486.6(AQP2):c.-59G>A	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GBenign
Select item 882311	NM_000486.6(AQP2):c.-16C>T	AQP2	Single nucleotide variant (5 prime UTR variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 998050	NM_000486.6(AQP2):c.3G>T (p.Met1Ile)	AQP2 (M1I)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 1148350	NM_000486.6(AQP2):c.9G>A (p.Glu3=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174094	NM_000486.6(AQP2):c.13C>T (p.Arg5Cys)	AQP2 (R5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201884	NM_000486.6(AQP2):c.14G>A (p.Arg5His)	AQP2 (R5H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2418659	NM_000486.6(AQP2):c.20T>C (p.Ile7Thr)	AQP2 (I7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850473	NM_000486.6(AQP2):c.24C>T (p.Ala8=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992949	NM_000486.6(AQP2):c.24C>G (p.Ala8=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882312	NM_000486.6(AQP2):c.32G>A (p.Arg11Lys)	AQP2 (R11K)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 3002542	NM_000486.6(AQP2):c.33G>A (p.Arg11=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 256244	NM_000486.6(AQP2):c.39G>A (p.Val13=)	AQP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1569973	NM_000486.6(AQP2):c.42C>T (p.Phe14=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3372833	NM_000486.6(AQP2):c.43G>A (p.Ala15Thr)	AQP2 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879506	NM_000486.6(AQP2):c.45A>G (p.Ala15=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604391	NM_000486.6(AQP2):c.51C>T (p.Phe17=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743434	NM_000486.6(AQP2):c.60A>C (p.Thr20=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109583	NM_000486.6(AQP2):c.60A>G (p.Thr20=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591809	NM_000486.6(AQP2):c.62T>C (p.Leu21Pro)	AQP2 (L21P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1588831	NM_000486.6(AQP2):c.63C>G (p.Leu21=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123346	NM_000486.6(AQP2):c.63C>T (p.Leu21=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17838	NM_000486.6(AQP2):c.64C>G (p.Leu22Val)	AQP2 (L22V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 1108249	NM_000486.6(AQP2):c.69C>T (p.Phe23=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 309232	NM_000486.6(AQP2):c.70G>A (p.Val24Ile)	AQP2 (V24I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1160193	NM_000486.6(AQP2):c.78T>C (p.Phe26=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159888	NM_000486.6(AQP2):c.84C>T (p.Leu28=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060682	NM_000486.6(AQP2):c.85G>A (p.Gly29Ser)	AQP2 (G29S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2707763	NM_000486.6(AQP2):c.87C>T (p.Gly29=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446862	NM_000486.6(AQP2):c.97_119del (p.Asn33fs)	AQP2 (N33fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2782132	NM_000486.6(AQP2):c.99C>T (p.Asn33=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998571	NM_000486.6(AQP2):c.102_104del (p.Trp34_Pro35delinsTer)	AQP2	Deletion (nonsense)	not provided	GPathogenic
Select item 1374721	NM_000486.6(AQP2):c.106C>T (p.Gln36Ter)	AQP2 (Q36*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2692630	NM_000486.6(AQP2):c.111C>T (p.Ala37=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897505	NM_000486.6(AQP2):c.112C>T (p.Leu38=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1128082	NM_000486.6(AQP2):c.114G>A (p.Leu38=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386212	NM_000486.6(AQP2):c.117C>T (p.Pro39=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128127	NM_000486.6(AQP2):c.119C>G (p.Ser40Cys)	AQP2 (S40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526141	NM_000486.6(AQP2):c.127_128del (p.Gln43fs)	AQP2 (Q43fs)	Deletion (frameshift variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 1454564	NM_000486.6(AQP2):c.127C>T (p.Gln43Ter)	AQP2 (Q43*)	Single nucleotide variant (nonsense)	Nephrogenic diabetes insipidus +2 more	GPathogenic/Likely pathogenic
Select item 1553077	NM_000486.6(AQP2):c.129G>A (p.Gln43=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128128	NM_000486.6(AQP2):c.131T>C (p.Ile44Thr)	AQP2 (I44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 989549	NM_000486.6(AQP2):c.135C>T (p.Ala45=)	AQP2	Single nucleotide variant (synonymous variant)	Nephrogenic diabetes insipidus	GUncertain significance
Select item 631682	NM_000486.6(AQP2):c.140C>T (p.Ala47Val)	AQP2 (A47V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 733227	NM_000486.6(AQP2):c.141G>A (p.Ala47=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 847319	NM_000486.6(AQP2):c.153dup (p.Ile52fs)	AQP2 (I52fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1210350	NM_000486.6(AQP2):c.155T>C (p.Ile52Thr)	AQP2 (I52T)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 1131212	NM_000486.6(AQP2):c.162C>T (p.Thr54=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798770	NM_000486.6(AQP2):c.162C>G (p.Thr54=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614730	NM_000486.6(AQP2):c.163C>T (p.Leu55=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897506	NM_000486.6(AQP2):c.168A>G (p.Val56=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17842	NM_000486.6(AQP2):c.170A>C (p.Gln57Pro)	AQP2 (Q57P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2124565	NM_000486.6(AQP2):c.177G>A (p.Leu59=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1134755	NM_000486.6(AQP2):c.180C>T (p.Gly60=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746827	NM_000486.6(AQP2):c.186A>T (p.Ile62=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763310	NM_000486.6(AQP2):c.189C>T (p.Ser63=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 17830	NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)	AQP2 (G64R)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic/Likely pathogenic
Select item 17834	NM_000486.6(AQP2):c.203A>G (p.Asn68Ser)	AQP2 (N68S)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 713761	NM_000486.6(AQP2):c.204C>T (p.Asn68=)	AQP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1154328	NM_000486.6(AQP2):c.210C>T (p.Ala70=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446860	NM_000486.6(AQP2):c.211G>A (p.Val71Met)	AQP2 (V71M)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic
Select item 2812910	NM_000486.6(AQP2):c.222C>T (p.Ala74=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 35693	NM_000486.6(AQP2):c.223T>G (p.Cys75Gly)	AQP2 (C75G)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
Select item 2909113	NM_000486.6(AQP2):c.234C>A (p.Gly78=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663404	NM_000486.6(AQP2):c.237C>T (p.Cys79=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124687	NM_000486.6(AQP2):c.240del (p.His80fs)	AQP2 (H80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1104418	NM_000486.6(AQP2):c.240C>T (p.His80=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533880	NM_000486.6(AQP2):c.246C>G (p.Ser82=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 766357	NM_000486.6(AQP2):c.246C>T (p.Ser82=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 2169812	NM_000486.6(AQP2):c.247G>A (p.Val83Ile)	AQP2 (V83I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1455736	NM_000486.6(AQP2):c.253C>T (p.Arg85Ter)	AQP2 (R85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1642473	NM_000486.6(AQP2):c.255A>G (p.Arg85=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568872	NM_000486.6(AQP2):c.255A>T (p.Arg85=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755364	NM_000486.6(AQP2):c.258C>T (p.Ala86=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GLikely benign
Select item 2113020	NM_000486.6(AQP2):c.261_283del (p.Phe88fs)	AQP2 (F88fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2157970	NM_000486.6(AQP2):c.262T>G (p.Phe88Val)	AQP2 (F88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1134870	NM_000486.6(AQP2):c.267C>T (p.Tyr89=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632366	NM_000486.6(AQP2):c.273T>C (p.Ala91=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559143	NM_000486.6(AQP2):c.276C>A (p.Ala92=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751229	NM_000486.6(AQP2):c.276C>G (p.Ala92=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446861	NM_000486.6(AQP2):c.277C>T (p.Gln93Ter)	AQP2 (Q93*)	Single nucleotide variant (nonsense)	Diabetes insipidus, nephrogenic, autosomal +1 more	GPathogenic
Select item 3353684	NM_000486.6(AQP2):c.281T>C (p.Leu94Pro)	AQP2 (L94P)	Single nucleotide variant (missense variant)	AQP2-related disorder	GUncertain significance
Select item 1810462	NM_000486.6(AQP2):c.287G>A (p.Gly96Glu)	AQP2 (G96E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019818	NM_000486.6(AQP2):c.288G>T (p.Gly96=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607247	NM_000486.6(AQP2):c.291T>C (p.Ala97=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128129	NM_000486.6(AQP2):c.292G>T (p.Val98Leu)	AQP2 (V98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1608247	NM_000486.6(AQP2):c.294G>A (p.Val98=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105319	NM_000486.6(AQP2):c.297C>G (p.Ala99=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031874	NM_000486.6(AQP2):c.297C>A (p.Ala99=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798912	NM_000486.6(AQP2):c.297C>T (p.Ala99=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319413	NM_000486.6(AQP2):c.298G>A (p.Gly100Arg)	AQP2 (G100R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 17843	NM_000486.6(AQP2):c.299G>T (p.Gly100Val)	AQP2 (G100V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1149851	NM_000486.6(AQP2):c.303C>G (p.Ala101=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094805	NM_000486.6(AQP2):c.303C>T (p.Ala101=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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