Related gene-specific medical variations for Gene (Select 8671) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3044007	NM_003759.4(SLC4A4):c.27G>A (p.Lys9=)	LOC129992668, SLC4A4	Single nucleotide variant (synonymous variant +1 more)	SLC4A4-related condition	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 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 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 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 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 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 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 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 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 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 591868	NM_001098484.3(SLC4A4):c.2657T>C (p.Leu886Pro)	SLC4A4 (L842P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591859	NM_001098484.3(SLC4A4):c.2446G>A (p.Gly816Arg)	SLC4A4 (G772R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591246	NM_001098484.3(SLC4A4):c.2249C>T (p.Thr750Ile)	SLC4A4 (T706I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 349546	NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=)	LOC126807073, SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 6472	NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His)	LOC126807073, SLC4A4 (R510H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GPathogenic

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Items: 22