ClinVar for Gene (Select 8671) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351083	NM_001098484.3(SLC4A4):c.1662C>T (p.Arg554=)	LOC126807073, SLC4A4	Single nucleotide variant (synonymous variant)	SLC4A4-related disorder	GLikely benign
Select item 3319973	NM_001098484.3(SLC4A4):c.2075T>G (p.Ile692Ser)	SLC4A4 (I648S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319972	NM_001098484.3(SLC4A4):c.521G>A (p.Arg174Gln)	SLC4A4 (R130Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319971	NM_001098484.3(SLC4A4):c.2063T>C (p.Phe688Ser)	SLC4A4 (F688S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3165108	NM_003759.4(SLC4A4):c.80T>C (p.Val27Ala)	SLC4A4 (V27A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165106	NM_001098484.3(SLC4A4):c.733A>G (p.Ser245Gly)	SLC4A4 (S201G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165105	NM_001098484.3(SLC4A4):c.731G>A (p.Gly244Asp)	SLC4A4 (G244D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165104	NM_001098484.3(SLC4A4):c.2929C>T (p.Pro977Ser)	SLC4A4 (P977S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165103	NM_001098484.3(SLC4A4):c.2416G>A (p.Val806Ile)	SLC4A4 (V762I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165102	NM_001098484.3(SLC4A4):c.2195T>C (p.Ile732Thr)	SLC4A4 (I688T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165101	NM_001098484.3(SLC4A4):c.194C>T (p.Ser65Phe)	SLC4A4 (S65F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165100	NM_001098484.3(SLC4A4):c.1657T>C (p.Phe553Leu)	LOC126807073, SLC4A4 (F553L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165099	NM_001098484.3(SLC4A4):c.144G>C (p.Lys48Asn)	SLC4A4 (K48N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165098	NM_001098484.3(SLC4A4):c.1262A>G (p.His421Arg)	SLC4A4 (H421R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165097	NM_001098484.3(SLC4A4):c.1261C>A (p.His421Asn)	SLC4A4 (H377N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165096	NM_001098484.3(SLC4A4):c.1195T>A (p.Ser399Thr)	SLC4A4 (S399T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062769	GRCh37/hg19 4q13.3(chr4:71132998-72479262)x3	AMBN, AMTN +13 more	Copy number gain	not specified	GUncertain significance
Select item 3046244	NM_001098484.3(SLC4A4):c.69A>G (p.Val23=)	SLC4A4	Single nucleotide variant (synonymous variant)	SLC4A4-related disorder	GLikely benign
Select item 3044007	NM_003759.4(SLC4A4):c.27G>A (p.Lys9=)	LOC129992668, SLC4A4	Single nucleotide variant (synonymous variant +1 more)	SLC4A4-related disorder	GLikely benign
Select item 3033498	NM_001098484.3(SLC4A4):c.2319T>C (p.Phe773=)	SLC4A4	Single nucleotide variant (synonymous variant)	SLC4A4-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023013	NM_001098484.3(SLC4A4):c.2938-20T>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3014620	NM_001098484.3(SLC4A4):c.2535G>A (p.Thr845=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005879	NM_001098484.3(SLC4A4):c.2194A>G (p.Ile732Val)	SLC4A4 (I732V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000057	NM_001098484.3(SLC4A4):c.2784G>C (p.Leu928=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987751	NM_001098484.3(SLC4A4):c.3039G>A (p.Lys1013=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979597	NM_001098484.3(SLC4A4):c.3100-13A>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978437	NM_001098484.3(SLC4A4):c.1311G>T (p.Gln437His)	SLC4A4 (Q393H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978037	NM_001098484.3(SLC4A4):c.1143A>C (p.Pro381=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975803	NM_001098484.3(SLC4A4):c.540A>G (p.Pro180=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965470	NM_001098484.3(SLC4A4):c.730+20G>A	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964285	NM_001098484.3(SLC4A4):c.1974+17T>G	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955368	NM_001098484.3(SLC4A4):c.2281-11T>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898260	NM_001098484.3(SLC4A4):c.1734A>G (p.Gln578=)	LOC126807073, SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877050	NM_001098484.3(SLC4A4):c.2115C>G (p.Thr705=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863462	NM_001098484.3(SLC4A4):c.810G>A (p.Leu270=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862483	NM_003759.4(SLC4A4):c.15T>C (p.Asn5=)	LOC129992668, SLC4A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797380	NM_001098484.3(SLC4A4):c.1903+12A>G	LOC126807073, SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797081	NM_001098484.3(SLC4A4):c.3100-17G>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745886	NM_003759.4(SLC4A4):c.30C>T (p.Pro10=)	LOC129992668, SLC4A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715639	NM_001098484.3(SLC4A4):c.3117A>G (p.Ser1039=)	SLC4A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685972	GRCh37/hg19 4q13.3(chr4:71388666-72250823)x3	GRSF1, AMBN +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2683646	NM_001098484.3(SLC4A4):c.1412C>T (p.Ser471Leu)	SLC4A4 (S427L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2682861	NM_001098484.3(SLC4A4):c.3188C>T (p.Pro1063Leu)	SLC4A4 (P1019L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654802	NM_001098484.3(SLC4A4):c.*202GTTT[1]	SLC4A4	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 2654801	NM_001098484.3(SLC4A4):c.2079A>G (p.Thr693=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654800	NM_001098484.3(SLC4A4):c.114T>C (p.Ser38=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633027	NM_001098484.3(SLC4A4):c.2017G>T (p.Glu673Ter)	SLC4A4 (E629* +1 more)	Single nucleotide variant (nonsense)	SLC4A4-related disorder	GLikely pathogenic
Select item 2599825	NM_001098484.3(SLC4A4):c.2308G>A (p.Val770Ile)	SLC4A4 (V770I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599351	NM_001098484.3(SLC4A4):c.3187C>A (p.Pro1063Thr)	SLC4A4 (P1063T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595767	NM_003759.4(SLC4A4):c.41G>C (p.Gly14Ala)	LOC129992668, SLC4A4 (G14A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2552119	NM_001098484.3(SLC4A4):c.2383A>G (p.Ile795Val)	SLC4A4 (I795V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535299	NM_003759.4(SLC4A4):c.37C>T (p.Leu13Phe)	LOC129992668, SLC4A4 (L13F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482312	NM_003759.4(SLC4A4):c.41G>A (p.Gly14Glu)	LOC129992668, SLC4A4 (G14E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479931	NM_001098484.3(SLC4A4):c.715A>T (p.Thr239Ser)	SLC4A4 (T195S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2412044	NM_001098484.3(SLC4A4):c.1321C>T (p.Arg441Trp)	SLC4A4 (R441W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348848	NM_001098484.3(SLC4A4):c.3223C>T (p.Arg1075Cys)	SLC4A4 (R1075C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2335567	NM_001098484.3(SLC4A4):c.3193G>A (p.Asp1065Asn)	SLC4A4 (D1021N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321629	NM_001098484.3(SLC4A4):c.1403A>G (p.Gln468Arg)	SLC4A4 (Q424R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287879	NM_001098484.3(SLC4A4):c.533C>T (p.Ser178Phe)	SLC4A4 (S134F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278368	NM_001098484.3(SLC4A4):c.200A>G (p.Lys67Arg)	SLC4A4 (K67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270412	NM_001098484.3(SLC4A4):c.807+3A>T	SLC4A4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2264517	NM_001098484.3(SLC4A4):c.2100C>G (p.Phe700Leu)	SLC4A4 (F700L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258710	NM_001098484.3(SLC4A4):c.3167C>A (p.Pro1056His)	SLC4A4 (P1012H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230570	NM_001098484.3(SLC4A4):c.2180T>C (p.Ile727Thr)	SLC4A4 (I727T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230506	NM_001098484.3(SLC4A4):c.2642C>T (p.Thr881Ile)	SLC4A4 (T837I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228981	NM_001098484.3(SLC4A4):c.832T>A (p.Leu278Met)	SLC4A4 (L234M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209196	NM_001098484.3(SLC4A4):c.1135G>A (p.Val379Ile)	SLC4A4 (V335I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200677	NM_001098484.3(SLC4A4):c.1699A>G (p.Ile567Val)	LOC126807073, SLC4A4 (I523V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2191567	NM_003759.4(SLC4A4):c.71T>G (p.Phe24Cys)	LOC129992668, SLC4A4 (F24C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191386	NM_001098484.3(SLC4A4):c.3200A>G (p.Glu1067Gly)	SLC4A4 (E1067G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185145	NM_001098484.3(SLC4A4):c.1208+4A>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2160278	NM_001098484.3(SLC4A4):c.2602C>T (p.Pro868Ser)	SLC4A4 (P868S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155166	NM_001098484.3(SLC4A4):c.1322+5C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2143464	NM_001098484.3(SLC4A4):c.3021A>T (p.Pro1007=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135265	NM_001098484.3(SLC4A4):c.2695-4C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129495	NM_001098484.3(SLC4A4):c.2443-15T>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128061	NM_001098484.3(SLC4A4):c.3099+10T>A	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106369	NM_003759.4(SLC4A4):c.39T>C (p.Leu13=)	LOC129992668, SLC4A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2094633	NM_001098484.3(SLC4A4):c.807+19C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092051	NM_001098484.3(SLC4A4):c.1209-14G>A	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078772	NM_001098484.3(SLC4A4):c.270A>T (p.Glu90Asp)	SLC4A4 (E46D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2057790	NM_001098484.3(SLC4A4):c.2088T>G (p.Ser696=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039663	NM_001098484.3(SLC4A4):c.2544C>T (p.Ser848=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024332	NM_001098484.3(SLC4A4):c.2382G>C (p.Leu794=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018648	NM_001098484.3(SLC4A4):c.966-19T>G	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989719	NM_001098484.3(SLC4A4):c.1497+19A>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981005	NM_001098484.3(SLC4A4):c.1110T>C (p.Ile370=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978893	NM_001098484.3(SLC4A4):c.898A>G (p.Ile300Val)	SLC4A4 (I256V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968871	NM_001098484.3(SLC4A4):c.390-14T>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949211	NM_001098484.3(SLC4A4):c.3171C>T (p.Phe1057=)	SLC4A4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927383	NM_001098484.3(SLC4A4):c.636C>T (p.His212=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914693	NM_001098484.3(SLC4A4):c.2060A>G (p.Asn687Ser)	SLC4A4 (N687S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1914012	NM_001098484.3(SLC4A4):c.1957A>G (p.Met653Val)	SLC4A4 (M653V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1914002	NM_001098484.3(SLC4A4):c.1393T>C (p.Leu465=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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