8671[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	CDKL2, LOC110120745 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	CSN2, CSN3 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 57860	GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3	AMBN, AMTN +30 more	Copy number gain	See cases	GUncertain significance
Select item 155363	GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3	AMBN, AMTN +26 more	Copy number gain	See cases	GUncertain significance
Select item 57861	GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3	DCK, GC +23 more	Copy number gain	See cases	GUncertain significance
Select item 57862	GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3	DCK, GC +21 more	Copy number gain	See cases	GUncertain significance
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
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 1237650	NM_001098484.3(SLC4A4):c.74-83C>A	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2654800	NM_001098484.3(SLC4A4):c.114T>C (p.Ser38=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1685128	NM_001098484.3(SLC4A4):c.149G>C (p.Gly50Ala)	SLC4A4 (G50A)	Single nucleotide variant (missense variant)	not specified +1 more	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 2278368	NM_001098484.3(SLC4A4):c.200A>G (p.Lys67Arg)	SLC4A4 (K67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 349530	NM_001098484.3(SLC4A4):c.254-200T>C	SLC4A4	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive proximal renal tubular acidosis	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 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 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 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 1473222	NM_003759.4(SLC4A4):c.31A>G (p.Ser11Gly)	LOC129992668, SLC4A4 (S11G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 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 349531	NM_003759.4(SLC4A4):c.70T>A (p.Phe24Ile)	LOC129992668, SLC4A4 (F24I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
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 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 6473	NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter)	SLC4A4 (Q29*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive proximal renal tubular acidosis	GPathogenic
Select item 2078772	NM_001098484.3(SLC4A4):c.270A>T (p.Glu90Asp)	SLC4A4 (E46D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 349532	NM_001098484.3(SLC4A4):c.290G>A (p.Gly97Glu)	SLC4A4 (G53E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 906719	NM_001098484.3(SLC4A4):c.329C>T (p.Thr110Met)	SLC4A4 (T110M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1898221	NM_001098484.3(SLC4A4):c.351C>T (p.Ala117=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1270106	NM_001098484.3(SLC4A4):c.390-46A>G	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1968871	NM_001098484.3(SLC4A4):c.390-14T>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 349533	NM_001098484.3(SLC4A4):c.390-11C>T	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +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 349534	NM_001098484.3(SLC4A4):c.511A>G (p.Met171Val)	SLC4A4 (M171V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis +2 more	GUncertain significance
Select item 349535	NM_001098484.3(SLC4A4):c.520C>T (p.Arg174Trp)	SLC4A4 (R130W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
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 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 2975803	NM_001098484.3(SLC4A4):c.540A>G (p.Pro180=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895557	NM_001098484.3(SLC4A4):c.547G>A (p.Val183Met)	SLC4A4 (V139M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780466	NM_001098484.3(SLC4A4):c.550+3A>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 1927383	NM_001098484.3(SLC4A4):c.636C>T (p.His212=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780928	NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 748233	NM_001098484.3(SLC4A4):c.684G>A (p.Gly228=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	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 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 2965470	NM_001098484.3(SLC4A4):c.730+20G>A	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 154915	GRCh38/hg38 4q13.3(chr4:71367496-72953379)x1	ADAMTS3, GC +8 more	Copy number loss	See cases	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 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 349536	NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val)	SLC4A4 (M204V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 1907035	NM_001098484.3(SLC4A4):c.777T>C (p.Asn259=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2270412	NM_001098484.3(SLC4A4):c.807+3A>T	SLC4A4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 907731	NM_001098484.3(SLC4A4):c.807+13T>G	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 2094633	NM_001098484.3(SLC4A4):c.807+19C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247487	NM_001098484.3(SLC4A4):c.808-110C>A	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 349537	NM_001098484.3(SLC4A4):c.808-4G>T	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 2863462	NM_001098484.3(SLC4A4):c.810G>A (p.Leu270=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 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 191191	NM_001098484.3(SLC4A4):c.842A>T (p.Asp281Val)	SLC4A4 (D237V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1310939	NM_001098484.3(SLC4A4):c.859G>A (p.Val287Met)	SLC4A4 (V243M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396170	NM_001098484.3(SLC4A4):c.865G>C (p.Val289Leu)	SLC4A4 (V289L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 349538	NM_001098484.3(SLC4A4):c.915A>G (p.Leu305=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349539	NM_001098484.3(SLC4A4):c.942G>C (p.Leu314=)	SLC4A4	Single nucleotide variant (synonymous variant)	SLC4A4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 907732	NM_001098484.3(SLC4A4):c.965+11C>T	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 1899406	NM_001098484.3(SLC4A4):c.965+16A>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262473	NM_001098484.3(SLC4A4):c.965+70A>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249502	NM_001098484.3(SLC4A4):c.965+159C>G	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263557	NM_001098484.3(SLC4A4):c.966-133A>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2018648	NM_001098484.3(SLC4A4):c.966-19T>G	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 349540	NM_001098484.3(SLC4A4):c.1014C>T (p.His338=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
Select item 6471	NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser)	SLC4A4 (R298S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GPathogenic
Select item 1981005	NM_001098484.3(SLC4A4):c.1110T>C (p.Ile370=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 349541	NM_001098484.3(SLC4A4):c.1132A>C (p.Ile378Leu)	SLC4A4 (I334L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 799162	NM_001098484.3(SLC4A4):c.1134C>T (p.Ile378=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2978037	NM_001098484.3(SLC4A4):c.1143A>C (p.Pro381=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 724783	NM_001098484.3(SLC4A4):c.1170G>A (p.Arg390=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2185145	NM_001098484.3(SLC4A4):c.1208+4A>C	SLC4A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1266855	NM_001098484.3(SLC4A4):c.1209-83C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2092051	NM_001098484.3(SLC4A4):c.1209-14G>A	SLC4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 349542	NM_001098484.3(SLC4A4):c.1235A>G (p.Asn412Ser)	SLC4A4 (N368S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349543	NM_001098484.3(SLC4A4):c.1257G>A (p.Thr419=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349544	NM_001098484.3(SLC4A4):c.1260C>G (p.Pro420=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
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 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 349545	NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp)	SLC4A4 (G380D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
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

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