ClinVar for MedGen (Select 370883) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 162

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576556	NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)	SLC4A4 (R346S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GLikely pathogenic
Select item 2444241	NM_001098484.3(SLC4A4):c.2951T>C (p.Val984Ala)	SLC4A4 (V940A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 1651859	NM_001098484.3(SLC4A4):c.1322+15C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1601697	NM_001098484.3(SLC4A4):c.3099+15A>G	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 1333156	NM_001098484.3(SLC4A4):c.2991C>T (p.His997=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1310941	NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His)	SLC4A4 (R881H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GUncertain significance
Select item 1275562	NM_001098484.3(SLC4A4):c.253+47A>G	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
Select item 1270986	NM_001098484.3(SLC4A4):c.2937+22C>T	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
Select item 1225739	NM_001098484.3(SLC4A4):c.2443-38G>A	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
Select item 907974	NM_001098484.3(SLC4A4):c.*4017C>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907901	NM_001098484.3(SLC4A4):c.*2329A>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 907900	NM_001098484.3(SLC4A4):c.*2172A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907899	NM_001098484.3(SLC4A4):c.*2152G>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 907898	NM_001098484.3(SLC4A4):c.*2126A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907832	NM_001098484.3(SLC4A4):c.*1009A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907831	NM_001098484.3(SLC4A4):c.*989T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907830	NM_001098484.3(SLC4A4):c.*880T>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907784	NM_001098484.3(SLC4A4):c.2612T>G (p.Leu871Arg)	SLC4A4 (L827R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907783	NM_001098484.3(SLC4A4):c.2547T>G (p.Ile849Met)	SLC4A4 (I805M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907732	NM_001098484.3(SLC4A4):c.965+11C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907731	NM_001098484.3(SLC4A4):c.807+13T>G	SLC4A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 907730	NM_001098484.3(SLC4A4):c.633G>A (p.Lys211=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906915	NM_001098484.3(SLC4A4):c.*1986G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 906914	NM_001098484.3(SLC4A4):c.*1956T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 906913	NM_001098484.3(SLC4A4):c.*1707A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 906844	NM_001098484.3(SLC4A4):c.*748T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 906843	NM_001098484.3(SLC4A4):c.*734G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 906842	NM_001098484.3(SLC4A4):c.*695C>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 906841	NM_001098484.3(SLC4A4):c.*552A>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 906798	NM_001098484.3(SLC4A4):c.2040C>A (p.Asn680Lys)	SLC4A4 (N636K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906720	NM_001098484.3(SLC4A4):c.390-5C>T	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 906719	NM_001098484.3(SLC4A4):c.329C>T (p.Thr110Met)	SLC4A4 (T110M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905901	NM_001098484.3(SLC4A4):c.*3702T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905900	NM_001098484.3(SLC4A4):c.*3574A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905390	NM_001098484.3(SLC4A4):c.*3106G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GLikely benign
Select item 905389	NM_001098484.3(SLC4A4):c.*3016T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905388	NM_001098484.3(SLC4A4):c.*2995G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905309	NM_001098484.3(SLC4A4):c.*1627A>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905308	NM_001098484.3(SLC4A4):c.*1536T>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905307	NM_001098484.3(SLC4A4):c.*1526C>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905306	NM_001098484.3(SLC4A4):c.*1509A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905245	NM_001098484.3(SLC4A4):c.*272T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GLikely benign
Select item 905201	NM_001098484.3(SLC4A4):c.2031C>T (p.Tyr677=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 905200	NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser)	LOC126807073, SLC4A4 (P590S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905199	NM_001098484.3(SLC4A4):c.1638T>C (p.Asn546=)	LOC126807073, SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 905198	NM_001098484.3(SLC4A4):c.1361C>T (p.Ala454Val)	SLC4A4 (A410V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 905138	NM_001098484.3(SLC4A4):c.254-187G>A	SLC4A4	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904596	NM_001098484.3(SLC4A4):c.*2863C>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904595	NM_001098484.3(SLC4A4):c.*2447A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904594	NM_001098484.3(SLC4A4):c.*2428T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GLikely benign
Select item 904593	NM_001098484.3(SLC4A4):c.*2416A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 904528	NM_001098484.3(SLC4A4):c.*1184T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904527	NM_001098484.3(SLC4A4):c.*1077C>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904526	NM_001098484.3(SLC4A4):c.*1067A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904464	NM_001098484.3(SLC4A4):c.*26G>T	SLC4A4 (G1057C)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904463	NM_001098484.3(SLC4A4):c.*26G>A	SLC4A4 (G1057S)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904462	NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg)	SLC4A4 (H1032R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904461	NM_001098484.3(SLC4A4):c.3226C>T (p.His1076Tyr)	SLC4A4 (H1032Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 904401	NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 904400	NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)	SLC4A4 (C433R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 802076	NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT	SLC4A4	Insertion (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
Select item 802075	NM_001098484.3(SLC4A4):c.1904-74_1904-73del	SLC4A4	Deletion (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
Select item 788523	NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln)	SLC4A4 (E714Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 780928	NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=)	SLC4A4	Single nucleotide variant (synonymous variant)	SLC4A4-related condition +2 more	GBenign/Likely benign
Select item 780466	NM_001098484.3(SLC4A4):c.550+3A>G	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 780034	NM_001098484.3(SLC4A4):c.2051A>T (p.Asn684Ile)	SLC4A4 (N640I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 775987	NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 758691	NM_001098484.3(SLC4A4):c.2925T>C (p.Ile975=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 734122	NM_001098484.3(SLC4A4):c.1275C>T (p.His425=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 725581	NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 718314	NM_001098484.3(SLC4A4):c.687G>A (p.Lys229=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 713807	NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg)	LOC126807073, SLC4A4 (K602R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 710952	NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 545698	NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)	SLC4A4 (K233fs +1 more)	Deletion (frameshift variant)	Autosomal recessive proximal renal tubular acidosis	GPathogenic
Select item 349614	NM_001098484.3(SLC4A4):c.*4028A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GLikely benign
Select item 349613	NM_001098484.3(SLC4A4):c.*3994C>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349612	NM_001098484.3(SLC4A4):c.*3802C>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349611	NM_001098484.3(SLC4A4):c.*3747G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349610	NM_001098484.3(SLC4A4):c.*3713T>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349609	NM_001098484.3(SLC4A4):c.*3712T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349608	NM_001098484.3(SLC4A4):c.*3615C>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349607	NM_001098484.3(SLC4A4):c.*3577A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349606	NM_001098484.3(SLC4A4):c.*3469A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349605	NM_001098484.3(SLC4A4):c.*3370C>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349604	NM_001098484.3(SLC4A4):c.*3080T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349603	NM_001098484.3(SLC4A4):c.*3056A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349602	NM_001098484.3(SLC4A4):c.*2975G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349601	NM_001098484.3(SLC4A4):c.*2916A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349600	NM_001098484.3(SLC4A4):c.*2864G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 349599	NM_001098484.3(SLC4A4):c.*2819A>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349598	NM_001098484.3(SLC4A4):c.*2767A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 349597	NM_001098484.3(SLC4A4):c.*2365G>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349596	NM_001098484.3(SLC4A4):c.*2353C>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 349595	NM_001098484.3(SLC4A4):c.*2346T>C	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 349594	NM_001098484.3(SLC4A4):c.*2281dup	SLC4A4	Duplication (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349593	NM_001098484.3(SLC4A4):c.*2184C>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349592	NM_001098484.3(SLC4A4):c.*2028A>G	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GLikely benign
Select item 349591	NM_001098484.3(SLC4A4):c.*2002C>A	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349590	NM_001098484.3(SLC4A4):c.*1945A>T	SLC4A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GBenign
Select item 349589	NM_001098484.3(SLC4A4):c.*1822del	SLC4A4	Deletion (3 prime UTR variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance

<< First< Prev

Page of 2