water pollution OR water contamination - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 319

<< First< Prev

Page of 4

The following term was not found in ClinVar: pollution.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13682	NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	ALPL (G249V +2 more)	Single nucleotide variant (missense variant)	ALPL-related disorder +4 more	GPathogenic
Select item 18068	NC_000001.11:g.230710048A>G	AGT	Single nucleotide variant	Renal tubular dysgenesis +2 more	GBenign
Select item 427606	NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)	MSH2 (P622Q +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GLikely pathogenic
Select item 265573	NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)	MSH2 (P622R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 1753	NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)	MSH2 (P622L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 162669	NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	WDPCP (D54N +1 more)	Single nucleotide variant (missense variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549829	UGT1A1*37	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 549830	UGT1A1*36	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +1 more	GBenign; drug response
Select item 549828	UGT1A1*1	UGT1A5, UGT1A6 +8 more	Microsatellite (intron variant)	Irinotecan response	Gdrug response
Select item 12280	UGT1A1*6	UGT1A, UGT1A1 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +5 more	GConflicting classifications of pathogenicity; drug response
Select item 5950	NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	EIF2B5 (R315H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3242426	NM_001098484.3(SLC4A4):c.2294del (p.Asn765fs)	SLC4A4 (N721fs +1 more)	Deletion (frameshift variant)	Autosomal recessive proximal renal tubular acidosis	GPathogenic
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 628976	NM_000077.5(CDKN2A):c.203C>G (p.Ala68Gly)	CDKN2A (A68G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 6732	NM_001170.1(AQP7):c.791G>T (p.Gly264Val)	AQP7 (G264V)	Single nucleotide variant (missense variant +3 more)	GLYCEROL QUANTITATIVE TRAIT LOCUS	GAffects
Select item 496590	NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)	GABBR2 (I705N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GPathogenic
Select item 496589	NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)	GABBR2 (S695I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GPathogenic
Select item 446211	NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)	GABBR2 (A567T)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 53006	NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	KCNQ1 (S566F +4 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 3 +7 more	GPathogenic/Likely pathogenic
Select item 53018	NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	KCNQ1 (R594Q +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 1 +9 more	GPathogenic/Likely pathogenic
Select item 12468	NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)	TPI1 (E142D +2 more)	Single nucleotide variant (missense variant)	Triosephosphate isomerase deficiency +1 more	GPathogenic/Likely pathogenic
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 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 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 17838	NM_000486.6(AQP2):c.64C>G (p.Leu22Val)	AQP2 (L22V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
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 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 446862	NM_000486.6(AQP2):c.97_119del (p.Asn33fs)	AQP2 (N33fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 798770	NM_000486.6(AQP2):c.162C>G (p.Thr54=)	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 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 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 35693	NM_000486.6(AQP2):c.223T>G (p.Cys75Gly)	AQP2 (C75G)	Single nucleotide variant (missense variant)	Nephrogenic diabetes insipidus	GLikely pathogenic
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 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 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 798912	NM_000486.6(AQP2):c.297C>T (p.Ala99=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17843	NM_000486.6(AQP2):c.299G>T (p.Gly100Val)	AQP2 (G100V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 766662	NM_000486.6(AQP2):c.324G>A (p.Thr108=)	AQP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236188	NM_000486.6(AQP2):c.338G>A (p.Arg113His)	AQP2 (R113H)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 256241	NM_000486.6(AQP2):c.342G>A (p.Gly114=)	AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +2 more	GBenign/Likely benign
Select item 256242	NM_000486.6(AQP2):c.345C>T (p.Asp115=)	AQP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1516570	NM_000486.6(AQP2):c.360+1G>A	AQP2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 256243	NM_000486.6(AQP2):c.360+3G>A	AQP2	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +2 more	GBenign
Select item 1526044	NM_000486.6(AQP2):c.360+5G>T	AQP2	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 17831	NM_000486.6(AQP2):c.369del (p.Asn123fs)	AQP2, AQP5-AS1 (N123fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 17837	NM_000486.6(AQP2):c.374C>T (p.Thr125Met)	AQP2, AQP5-AS1 (T125M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 988214	NM_000486.6(AQP2):c.375del (p.Thr126fs)	AQP2, AQP5-AS1 (T126fs)	Deletion (non-coding transcript variant +1 more)	Nephrogenic diabetes insipidus	GPathogenic
Select item 17833	NM_000486.6(AQP2):c.377C>T (p.Thr126Met)	AQP2, AQP5-AS1 (T126M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 309233	NM_000486.6(AQP2):c.390G>C (p.Ala130=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882578	NM_000486.6(AQP2):c.391G>A (p.Val131Met)	AQP2, AQP5-AS1 (V131M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 35694	NM_000486.6(AQP2):c.438C>T (p.Phe146=)	AQP5-AS1, AQP2	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal +2 more	GBenign/Likely benign
Select item 17832	NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)	AQP2, AQP5-AS1 (A147T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 763955	NM_000486.6(AQP2):c.447C>T (p.Thr149=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 441134	NM_000486.6(AQP2):c.450T>A (p.Asp150Glu)	AQP2, AQP5-AS1 (D150E)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 883361	NM_000486.6(AQP2):c.456C>A (p.Arg152=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 733151	NM_000486.6(AQP2):c.459C>T (p.Arg153=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 883362	NM_000486.6(AQP2):c.460G>A (p.Gly154Arg)	AQP2, AQP5-AS1 (G154R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 737819	NM_000486.6(AQP2):c.471G>A (p.Pro157=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504917	NM_000486.6(AQP2):c.501T>C (p.Ser167=)	AQP2, AQP5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal +2 more	GBenign
Select item 1809696	NM_000486.6(AQP2):c.502G>A (p.Val168Met)	AQP2, AQP5-AS1 (V168M)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GLikely pathogenic
Select item 1679284	NM_000486.6(AQP2):c.518T>G (p.Leu173Arg)	AQP5-AS1, AQP2 (L173R)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 17835	NM_000486.6(AQP2):c.523G>A (p.Gly175Arg)	AQP2, AQP5-AS1 (G175R)	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 1228152	NM_000486.6(AQP2):c.526-54T>C	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GBenign
Select item 309234	NM_000486.6(AQP2):c.526-5T>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GUncertain significance
Select item 828116	NM_000486.6(AQP2):c.526-1G>T	AQP2, AQP5-AS1	Single nucleotide variant (splice acceptor variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely pathogenic
Select item 17839	NM_000486.6(AQP2):c.543C>G (p.Cys181Trp)	AQP2, AQP5-AS1 (C181W)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 17828	NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	AQP2, AQP5-AS1 (R187C)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal +2 more	GPathogenic/Likely pathogenic
Select item 35695	NM_000486.6(AQP2):c.560G>A (p.Arg187His)	AQP2, AQP5-AS1 (R187H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 430573	NM_000486.6(AQP2):c.563C>T (p.Ser188Phe)	AQP2, AQP5-AS1 (S188F)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GLikely pathogenic
Select item 17845	NM_000486.6(AQP2):c.568G>A (p.Ala190Thr)	AQP2, AQP5-AS1 (A190T)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 3250453	NM_000486.6(AQP2):c.569C>T (p.Ala190Val)	AQP2, AQP5-AS1 (A190V)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GUncertain significance
Select item 718766	NM_000486.6(AQP2):c.579C>T (p.Val193=)	AQP5-AS1, AQP2	Single nucleotide variant (synonymous variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 883363	NM_000486.6(AQP2):c.606+14C>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GBenign/Likely benign
Select item 1180564	NM_000486.6(AQP2):c.607-253T>C	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178280	NM_000486.6(AQP2):c.607-92A>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GBenign
Select item 1180565	NM_000486.6(AQP2):c.607-59C>A	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180579	NM_000486.6(AQP2):c.607-39C>G	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 309235	NM_000486.6(AQP2):c.607-12G>T	AQP2, AQP5-AS1	Single nucleotide variant (intron variant)	Diabetes insipidus, nephrogenic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 763857	NM_000486.6(AQP2):c.607-3del	AQP2, AQP5-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 881000	NM_000486.6(AQP2):c.626T>C (p.Leu209Pro)	AQP2, AQP5-AS1 (L209P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 17829	NM_000486.6(AQP2):c.646T>C (p.Ser216Pro)	AQP5-AS1, AQP2 (S216P)	Single nucleotide variant (missense variant)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 724199	NM_000486.6(AQP2):c.702G>A (p.Leu234=)	AQP2, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 4