SLC4A11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 898049	NM_001174089.2(SLC4A11):c.*351C>T	ITPA, SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 898050	NM_001174089.2(SLC4A11):c.*323C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 338230	NM_001174089.2(SLC4A11):c.*225C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy +1 more	GLikely benign
Select item 898051	NM_001174089.2(SLC4A11):c.*109C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 338231	NM_001174089.2(SLC4A11):c.*34C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy +1 more	GBenign
Select item 899173	NM_001174089.2(SLC4A11):c.*27C>T	SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 769066	NM_001174089.2(SLC4A11):c.2610C>T (p.Asp870=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1370534	NM_001174089.2(SLC4A11):c.2602G>A (p.Val868Ile)	SLC4A11 (V830I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1121122	NM_001174089.2(SLC4A11):c.2595C>T (p.Tyr865=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801220	NM_001174089.2(SLC4A11):c.2592G>A (p.Lys864=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3337594	NM_001174089.2(SLC4A11):c.2576G>A (p.Arg859Gln)	SLC4A11 (R821Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2736934	NM_001174089.2(SLC4A11):c.2575C>T (p.Arg859Ter)	SLC4A11 (R821* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1111904	NM_001174089.2(SLC4A11):c.2571G>A (p.Leu857=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1079834	NM_001174089.2(SLC4A11):c.2569C>T (p.Leu857=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3251962	NM_001174089.2(SLC4A11):c.2559-2A>G	SLC4A11	Single nucleotide variant (splice acceptor variant)	Congenital hereditary endothelial dystrophy of cornea	GLikely pathogenic
Select item 1582589	NM_001174089.2(SLC4A11):c.2559-4A>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838739	NM_001174089.2(SLC4A11):c.2559-17TCCC[4]	SLC4A11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2759170	NM_001174089.2(SLC4A11):c.2559-5del	SLC4A11	Deletion (intron variant)	not provided	GBenign
Select item 751053	NM_001174089.2(SLC4A11):c.2559-5C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771367	NM_001174089.2(SLC4A11):c.2559-10C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911297	NM_001174089.2(SLC4A11):c.2559-12C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006032	NM_001174089.2(SLC4A11):c.2559-16C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978380	NM_001174089.2(SLC4A11):c.2559-16C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798157	NM_001174089.2(SLC4A11):c.2559-18G>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994991	NM_001174089.2(SLC4A11):c.2559-20C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913267	NM_001174089.2(SLC4A11):c.2559-20del	SLC4A11	Deletion (intron variant)	not provided	GLikely benign
Select item 1596059	NM_001174089.2(SLC4A11):c.2558+17A>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2842069	NM_001174089.2(SLC4A11):c.2558+16C>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718673	NM_001174089.2(SLC4A11):c.2558+12_2558+13insTG	SLC4A11	Insertion (intron variant)	not provided	GLikely benign
Select item 899174	NM_001174089.2(SLC4A11):c.2558+12T>A	SLC4A11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1162185	NM_001174089.2(SLC4A11):c.2558+8C>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1504281	NM_001174089.2(SLC4A11):c.2558+1G>A	SLC4A11	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1311	NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His)	SLC4A11 (R869H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1309	NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)	SLC4A11 (R869C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2854060	NM_001174089.2(SLC4A11):c.2556C>A (p.Ile852=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 338232	NM_001174089.2(SLC4A11):c.2554A>G (p.Ile852Val)	SLC4A11 (I852V +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 2979895	NM_001174089.2(SLC4A11):c.2553C>T (p.Pro851=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2165993	NM_001174089.2(SLC4A11):c.2541C>T (p.Ile847=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2771350	NM_001174089.2(SLC4A11):c.2539del (p.Ile847fs)	SLC4A11 (I847fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1620826	NM_001174089.2(SLC4A11):c.2535C>T (p.Ile845=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2107800	NM_001174089.2(SLC4A11):c.2532C>T (p.Leu844=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734649	NM_001174089.2(SLC4A11):c.2529C>T (p.Pro843=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3319938	NM_001174089.2(SLC4A11):c.2521A>G (p.Ile841Val)	SLC4A11 (I803V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1315	NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val)	SLC4A11 (M856V +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome	GPathogenic
Select item 763923	NM_001174089.2(SLC4A11):c.2517G>A (p.Lys839=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2514732	NM_001174089.2(SLC4A11):c.2512A>T (p.Met838Leu)	SLC4A11 (M819L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2145944	NM_001174089.2(SLC4A11):c.2512A>G (p.Met838Val)	SLC4A11 (M800V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1632868	NM_001174089.2(SLC4A11):c.2505G>A (p.Leu835=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 794206	NM_001174089.2(SLC4A11):c.2503C>T (p.Leu835=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 769067	NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)	SLC4A11 (M848I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1081570	NM_001174089.2(SLC4A11):c.2490C>T (p.Phe830=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1659320	NM_001174089.2(SLC4A11):c.2481G>A (p.Leu827=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1316	NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	SLC4A11 (L843P +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2421049	NM_001174089.2(SLC4A11):c.2478G>A (p.Leu826=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1582495	NM_001174089.2(SLC4A11):c.2476C>T (p.Leu826=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1125387	NM_001174089.2(SLC4A11):c.2472G>A (p.Leu824=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1146723	NM_001174089.2(SLC4A11):c.2463G>A (p.Val821=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1089661	NM_001174089.2(SLC4A11):c.2454C>G (p.Gly818=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069986	NM_001174089.2(SLC4A11):c.2452G>A (p.Gly818Ser)	SLC4A11 (G834S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 338233	NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2583161	NM_001174089.2(SLC4A11):c.2450C>T (p.Thr817Met)	SLC4A11 (T779M +5 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea	GLikely pathogenic
Select item 1646409	NM_001174089.2(SLC4A11):c.2439C>A (p.Ile813=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2813961	NM_001174089.2(SLC4A11):c.2436G>A (p.Lys812=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2914808	NM_001174089.2(SLC4A11):c.2427C>G (p.Pro809=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 799909	NM_001174089.2(SLC4A11):c.2424G>T (p.Val808=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1499852	NM_001174089.2(SLC4A11):c.2422G>A (p.Val808Met)	SLC4A11 (V770M +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2885783	NM_001174089.2(SLC4A11):c.2415C>T (p.Ile805=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1133541	NM_001174089.2(SLC4A11):c.2412C>T (p.Tyr804=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1131168	NM_001174089.2(SLC4A11):c.2403G>A (p.Pro801=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1068399	NM_001174089.2(SLC4A11):c.2402dup (p.Thr802fs)	SLC4A11 (T764fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1623058	NM_001174089.2(SLC4A11):c.2400C>T (p.Pro800=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1103784	NM_001174089.2(SLC4A11):c.2397C>T (p.Tyr799=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1129856	NM_001174089.2(SLC4A11):c.2394G>A (p.Ala798=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 338234	NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1360321	NM_001174089.2(SLC4A11):c.2389-1G>A	SLC4A11	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1143034	NM_001174089.2(SLC4A11):c.2389-8G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1083056	NM_001174089.2(SLC4A11):c.2389-8G>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308835	NM_001174089.2(SLC4A11):c.2389-9C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261999	NM_001174089.2(SLC4A11):c.2389-9C>T	SLC4A11	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 2795391	NM_001174089.2(SLC4A11):c.2389-10C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974249	NM_001174089.2(SLC4A11):c.2389-15C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766882	NM_001174089.2(SLC4A11):c.2389-17G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911462	NM_001174089.2(SLC4A11):c.2389-18G>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884684	NM_001174089.2(SLC4A11):c.2389-18G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign

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