ClinVar for Gene (Select 6521) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 700

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365992	NM_000342.4(SLC4A1):c.169-6_169-5delinsG	SLC4A1	Indel (intron variant)	not provided	GUncertain significance
Select item 3363462	NM_000342.4(SLC4A1):c.1460T>C (p.Ile487Thr)	SLC4A1 (I487T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359164	NM_000342.4(SLC4A1):c.2453A>G (p.Tyr818Cys)	SLC4A1 (Y818C)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis	GLikely pathogenic
Select item 3356675	NM_000342.4(SLC4A1):c.877-9T>A	SLC4A1	Single nucleotide variant (intron variant)	SLC4A1-related disorder	GLikely pathogenic
Select item 3355902	NM_000342.4(SLC4A1):c.2351C>T (p.Pro784Leu)	SLC4A1 (P784L)	Single nucleotide variant (missense variant)	SLC4A1-related disorder	GUncertain significance
Select item 3347232	NM_000342.4(SLC4A1):c.2418T>C (p.Phe806=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder	GLikely benign
Select item 3346546	NM_000342.4(SLC4A1):c.592_593del (p.Gln198fs)	SLC4A1 (Q198fs)	Microsatellite (frameshift variant)	SLC4A1-related disorder	GLikely pathogenic
Select item 3344397	NM_000342.4(SLC4A1):c.2358dup (p.Val787fs)	SLC4A1 (V787fs)	Duplication (frameshift variant)	SLC4A1-related disorder	GPathogenic
Select item 3339839	NM_000342.4(SLC4A1):c.1162C>G (p.Arg388Gly)	SLC4A1 (R388G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338411	NM_000342.4(SLC4A1):c.722T>A (p.Val241Glu)	SLC4A1 (V241E)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis	GUncertain significance
Select item 3319919	NM_000342.4(SLC4A1):c.2497A>G (p.Met833Val)	SLC4A1 (M833V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319918	NM_000342.4(SLC4A1):c.2345G>T (p.Arg782Leu)	SLC4A1 (R782L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319917	NM_000342.4(SLC4A1):c.2286T>A (p.Ser762Arg)	SLC4A1 (S762R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319916	NM_000342.4(SLC4A1):c.350G>A (p.Gly117Asp)	SLC4A1 (G117D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3236344	NM_000342.4(SLC4A1):c.1816G>A (p.Gly606Arg)	SLC4A1 (G606R)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis	GLikely pathogenic
Select item 3236234	NM_000342.4(SLC4A1):c.2712C>G (p.Tyr904Ter)	SLC4A1 (Y904*)	Single nucleotide variant (nonsense)	Autosomal dominant distal renal tubular acidosis	GLikely pathogenic
Select item 3165017	NM_000342.4(SLC4A1):c.511G>T (p.Gly171Trp)	SLC4A1 (G171W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165015	NM_000342.4(SLC4A1):c.417T>G (p.Phe139Leu)	SLC4A1 (F139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165014	NM_000342.4(SLC4A1):c.391G>C (p.Val131Leu)	SLC4A1 (V131L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165013	NM_000342.4(SLC4A1):c.1540C>T (p.Arg514Cys)	SLC4A1 (R514C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068152	NM_000342.4(SLC4A1):c.2492G>A (p.Trp831Ter)	SLC4A1 (W831*)	Single nucleotide variant (nonsense)	Cryohydrocytosis	GLikely pathogenic
Select item 3068136	NM_000342.4(SLC4A1):c.2115C>G (p.Asp705Glu)	SLC4A1 (D705E)	Single nucleotide variant (missense variant)	Cryohydrocytosis	GLikely pathogenic
Select item 3067442	NM_000342.4(SLC4A1):c.853G>T (p.Ala285Ser)	SLC4A1 (A285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059018	NM_000342.4(SLC4A1):c.-4C>T	SLC4A1	Single nucleotide variant (5 prime UTR variant)	SLC4A1-related disorder	GLikely benign
Select item 3044258	NM_000342.4(SLC4A1):c.1596_1605delinsT (p.Ile533_Glu535del)	SLC4A1	Indel	SLC4A1-related disorder	GLikely pathogenic
Select item 3043755	NM_000342.4(SLC4A1):c.264G>A (p.Leu88=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder	GLikely benign
Select item 3031856	NM_000342.4(SLC4A1):c.-58T>C	SLC4A1	Single nucleotide variant (5 prime UTR variant)	SLC4A1-related disorder	GLikely benign
Select item 3031747	NM_000342.4(SLC4A1):c.-59G>C	SLC4A1	Single nucleotide variant (5 prime UTR variant)	SLC4A1-related disorder	GLikely benign
Select item 3028987	NM_000342.4(SLC4A1):c.765G>A (p.Ala255=)	SLC4A1	Single nucleotide variant (synonymous variant)	SLC4A1-related disorder	GLikely benign
Select item 3022588	NM_000342.4(SLC4A1):c.169-11T>C	SLC4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021774	NM_000342.4(SLC4A1):c.776C>T (p.Pro259Leu)	SLC4A1 (P259L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003490	NM_000342.4(SLC4A1):c.694+11G>A	SLC4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000780	NM_000342.4(SLC4A1):c.1861G>T (p.Asp621Tyr)	SLC4A1 (D621Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991422	NM_000342.4(SLC4A1):c.107-17C>T	SLC4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988135	NM_000342.4(SLC4A1):c.1186G>A (p.Asp396Asn)	SLC4A1 (D396N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986890	NM_000342.4(SLC4A1):c.588G>A (p.Glu196=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986371	NM_000342.4(SLC4A1):c.1470C>T (p.Arg490=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982783	NM_000342.4(SLC4A1):c.866T>C (p.Met289Thr)	SLC4A1 (M289T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981504	NM_000342.4(SLC4A1):c.1765C>G (p.Arg589Gly)	SLC4A1 (R589G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2980327	NM_000342.4(SLC4A1):c.350-11A>G	SLC4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975511	NM_000342.4(SLC4A1):c.609+17G>A	SLC4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971991	NM_000342.4(SLC4A1):c.2730T>C (p.Pro910=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970468	NM_000342.4(SLC4A1):c.129C>T (p.Ala43=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962336	NM_000342.4(SLC4A1):c.375G>A (p.Glu125=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961906	NM_000342.4(SLC4A1):c.1874A>G (p.Gln625Arg)	SLC4A1 (Q625R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959389	NM_000342.4(SLC4A1):c.639A>C (p.Pro213=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921255	NM_000342.4(SLC4A1):c.655A>G (p.Lys219Glu)	SLC4A1 (K219E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921207	NM_000342.4(SLC4A1):c.1790del (p.Phe597fs)	SLC4A1 (F597fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2921156	NM_000342.4(SLC4A1):c.2009C>G (p.Pro670Arg)	SLC4A1 (P670R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921067	NM_000342.4(SLC4A1):c.1001del (p.Ser334fs)	SLC4A1 (S334fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2921030	NM_000342.4(SLC4A1):c.1889A>C (p.Gln630Pro)	SLC4A1 (Q630P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921023	NM_000342.4(SLC4A1):c.1915A>T (p.Lys639Ter)	SLC4A1 (K639*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2920978	NM_000342.4(SLC4A1):c.1446C>T (p.Asn482=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920854	NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)	SLC4A1 (R603W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920828	NM_000342.4(SLC4A1):c.407_408del (p.Leu136fs)	SLC4A1 (L136fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2910432	NM_000342.4(SLC4A1):c.1898C>T (p.Ser633Leu)	SLC4A1 (S633L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909810	NM_000342.4(SLC4A1):c.1065C>T (p.Asp355=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905897	NM_000342.4(SLC4A1):c.449G>A (p.Arg150Gln)	SLC4A1 (R150Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903377	NM_000342.4(SLC4A1):c.2118G>A (p.Leu706=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897243	NM_000342.4(SLC4A1):c.1229T>A (p.Ile410Asn)	SLC4A1 (I410N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894014	NM_000342.4(SLC4A1):c.1980C>T (p.Pro660=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892542	NM_000342.4(SLC4A1):c.2735G>A (p.Ter912=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2890322	NM_000342.4(SLC4A1):c.234G>A (p.Ala78=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887263	NM_000342.4(SLC4A1):c.1118A>T (p.Gln373Leu)	SLC4A1 (Q373L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886170	NM_000342.4(SLC4A1):c.237G>A (p.Ala79=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884992	NM_000342.4(SLC4A1):c.2458C>T (p.Pro820Ser)	SLC4A1 (P820S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2883420	NM_000342.4(SLC4A1):c.695-8C>A	SLC4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871665	NM_000342.4(SLC4A1):c.2189G>A (p.Arg730His)	SLC4A1 (R730H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870363	NM_000342.4(SLC4A1):c.291G>A (p.Pro97=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864138	NM_000342.4(SLC4A1):c.1127G>A (p.Gly376Asp)	SLC4A1 (G376D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2847171	NM_000342.4(SLC4A1):c.2641_2647del (p.Val881fs)	SLC4A1 (V881fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2846709	NM_000342.4(SLC4A1):c.695-11T>C	SLC4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839181	NM_000342.4(SLC4A1):c.2644G>T (p.Glu882Ter)	SLC4A1 (E882*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2828959	NM_000342.4(SLC4A1):c.1602T>A (p.Tyr534Ter)	SLC4A1 (Y534*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2827061	NM_000342.4(SLC4A1):c.695-34_695-3del	SLC4A1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2818637	NM_000342.4(SLC4A1):c.877G>A (p.Val293Met)	SLC4A1 (V293M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815953	NM_000342.4(SLC4A1):c.2659_2662dup (p.Ala888fs)	SLC4A1 (A888fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2815892	NM_000342.4(SLC4A1):c.1982T>A (p.Ile661Asn)	SLC4A1 (I661N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813377	NM_000342.4(SLC4A1):c.1603G>T (p.Glu535Ter)	SLC4A1 (E535*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2810623	NM_000342.4(SLC4A1):c.1970_1976del (p.Ser657fs)	SLC4A1 (S657fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2810447	NM_000342.4(SLC4A1):c.486-4G>A	SLC4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2808025	NM_000342.4(SLC4A1):c.1848C>T (p.Ile616=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801179	NM_000342.4(SLC4A1):c.485+4C>T	SLC4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2796946	NM_000342.4(SLC4A1):c.1650G>C (p.Gln550His)	SLC4A1 (Q550H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792649	NM_000342.4(SLC4A1):c.2611C>T (p.Arg871Cys)	SLC4A1 (R871C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790861	NM_000342.4(SLC4A1):c.2101G>A (p.Gly701Ser)	SLC4A1 (G701S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789900	NM_000342.4(SLC4A1):c.2589C>T (p.Leu863=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782617	NM_000342.4(SLC4A1):c.1363G>T (p.Gly455Trp)	SLC4A1 (G455W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781351	NM_000342.4(SLC4A1):c.2245G>A (p.Ala749Thr)	SLC4A1 (A749T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775423	NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)	SLC4A1 (S594R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2770782	NM_000342.4(SLC4A1):c.978C>T (p.Ala326=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767522	NM_000342.4(SLC4A1):c.1034G>A (p.Arg345Lys)	SLC4A1 (R345K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765491	NM_000342.4(SLC4A1):c.1800+1G>A	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2764624	NM_000342.4(SLC4A1):c.2482-11T>G	SLC4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2761768	NM_000342.4(SLC4A1):c.403C>T (p.Leu135=)	SLC4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761633	NM_000342.4(SLC4A1):c.753_757dup (p.Leu253fs)	SLC4A1 (L253fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2760517	NM_000342.4(SLC4A1):c.2327T>G (p.Met776Arg)	SLC4A1 (M776R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753912	NM_000342.4(SLC4A1):c.1006G>A (p.Val336Met)	SLC4A1 (V336M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 7