ClinVar for Gene (Select 83959) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3319941	NM_001174089.2(SLC4A11):c.44-2A>G	SLC4A11	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3319940	NM_001174089.2(SLC4A11):c.84T>G (p.Asp28Glu)	SLC4A11 (D44E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3319937	NM_001174089.2(SLC4A11):c.1531C>G (p.His511Asp)	SLC4A11 (H473D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319936	NM_001174089.2(SLC4A11):c.1007G>T (p.Arg336Leu)	SLC4A11 (R317L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319935	NM_001174089.2(SLC4A11):c.197G>A (p.Arg66His)	SLC4A11 (R66H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319934	NM_001174089.2(SLC4A11):c.544A>G (p.Ile182Val)	SLC4A11 (I198V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319933	NM_001174089.2(SLC4A11):c.132G>C (p.Glu44Asp)	SLC4A11 (E25D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319932	NM_001174089.2(SLC4A11):c.887C>T (p.Pro296Leu)	SLC4A11 (P296L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319931	NM_001174089.2(SLC4A11):c.949C>T (p.Pro317Ser)	SLC4A11 (P298S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319930	NM_001174089.2(SLC4A11):c.44-79G>C	SLC4A11 (G5R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248354	NC_000020.10:g.(?_3205137)_(3209744_?)del	SLC4A11	Deletion	not provided	GLikely pathogenic
Select item 3248353	NC_000020.10:g.(?_3211989)_(3212849_?)del	SLC4A11	Deletion	not provided	GLikely pathogenic
Select item 3248351	NC_000020.10:g.(?_3171299)_(3218325_?)dup	DDRGK1, ITPA +1 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3238785	NM_001174089.2(SLC4A11):c.1849A>C (p.Met617Leu)	SLC4A11 (M579L +5 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome	GUncertain significance
Select item 3165037	NM_001174089.2(SLC4A11):c.910C>T (p.Arg304Cys)	SLC4A11 (R320C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165036	NM_001174089.2(SLC4A11):c.635A>C (p.His212Pro)	SLC4A11 (H212P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165035	NM_001174089.2(SLC4A11):c.44-34C>T	SLC4A11 (H20Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165034	NM_001174089.2(SLC4A11):c.434G>A (p.Arg145Lys)	SLC4A11 (R145K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165033	NM_001174089.2(SLC4A11):c.400A>G (p.Asn134Asp)	SLC4A11 (N134D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165032	NM_001174089.2(SLC4A11):c.232A>G (p.Thr78Ala)	SLC4A11 (T59A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165030	NM_001174089.2(SLC4A11):c.1819A>G (p.Ile607Val)	SLC4A11 (I612V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165029	NM_001174089.2(SLC4A11):c.1687C>G (p.Leu563Val)	SLC4A11 (L563V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165028	NM_001174089.2(SLC4A11):c.1588G>A (p.Ala530Thr)	SLC4A11 (A546T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165027	NM_001174089.2(SLC4A11):c.1216G>A (p.Ala406Thr)	SLC4A11 (A387T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165026	NM_001174089.2(SLC4A11):c.1142A>G (p.Asn381Ser)	SLC4A11 (N381S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165024	NM_001174089.2(SLC4A11):c.1073A>G (p.Lys358Arg)	SLC4A11 (K358R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068779	NM_001174089.2(SLC4A11):c.2192+2dup	SLC4A11	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 3067552	NM_001174089.2(SLC4A11):c.44-353G>A	SLC4A11 (A42T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3062412	GRCh37/hg19 20p13(chr20:3169728-3642646)x1	ATRN, DDRGK1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3056080	NM_001174089.2(SLC4A11):c.44-329A>G	SLC4A11 (R50G)	Single nucleotide variant (missense variant +2 more)	SLC4A11-related disorder	GBenign
Select item 3047991	NM_001174089.2(SLC4A11):c.44-459C>T	SLC4A11	Single nucleotide variant (synonymous variant +2 more)	SLC4A11-related disorder	GLikely benign
Select item 3033797	NM_001174089.2(SLC4A11):c.44-368C>T	SLC4A11 (R37W)	Single nucleotide variant (missense variant +2 more)	SLC4A11-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 3023341	NM_001174089.2(SLC4A11):c.524-17C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022136	NM_001174089.2(SLC4A11):c.1283-20G>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021888	NM_001174089.2(SLC4A11):c.1489+19C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021426	NM_001174089.2(SLC4A11):c.1056A>G (p.Lys352=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021018	NM_001174089.2(SLC4A11):c.1850-17C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019543	NM_001174089.2(SLC4A11):c.1043-18C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019209	NM_001174089.2(SLC4A11):c.1416-20G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017338	NM_001174089.2(SLC4A11):c.524-18C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017058	NM_001174089.2(SLC4A11):c.1282+17G>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016563	NM_001174089.2(SLC4A11):c.291+19A>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014287	NM_001174089.2(SLC4A11):c.88+17G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011634	NM_001174089.2(SLC4A11):c.1490-5C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011425	NM_001174089.2(SLC4A11):c.2178A>C (p.Gly726=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009032	NM_001174089.2(SLC4A11):c.2388+14C>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 3005553	NM_001174089.2(SLC4A11):c.949-18C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005451	NM_001174089.2(SLC4A11):c.1489+7G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002390	NM_001174089.2(SLC4A11):c.2277G>C (p.Pro759=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002251	NM_001174089.2(SLC4A11):c.1043-9C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000080	NM_001174089.2(SLC4A11):c.524-12C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000040	NM_001174089.2(SLC4A11):c.1283-14C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000019	NM_001174089.2(SLC4A11):c.1282+18G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998745	NM_001174089.2(SLC4A11):c.605+14C>G	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 2991881	NM_001174089.2(SLC4A11):c.624A>G (p.Leu208=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990861	NM_001174089.2(SLC4A11):c.1042+9C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989893	NM_001174089.2(SLC4A11):c.523+17G>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989865	NM_001174089.2(SLC4A11):c.2019-17G>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989804	NM_001174089.2(SLC4A11):c.2019-20C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986712	NM_001174089.2(SLC4A11):c.532C>T (p.Leu178=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986653	NM_001174089.2(SLC4A11):c.1077C>T (p.Tyr359=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986532	NM_001174089.2(SLC4A11):c.1283-16T>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986488	NM_001174089.2(SLC4A11):c.762C>G (p.Arg254=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983917	NM_001174089.2(SLC4A11):c.2389-19del	SLC4A11	Deletion (intron variant)	not provided	GLikely benign
Select item 2983487	NM_001174089.2(SLC4A11):c.1283-11C>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982125	NM_001174089.2(SLC4A11):c.1080C>T (p.Ile360=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980573	NM_001174089.2(SLC4A11):c.949-19G>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980263	NM_001174089.2(SLC4A11):c.867dup (p.Thr290fs)	SLC4A11 (T271fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 2979543	NM_001174089.2(SLC4A11):c.1533_1536del (p.His511fs)	SLC4A11 (H492fs +5 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2978380	NM_001174089.2(SLC4A11):c.2559-16C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977761	NM_001174089.2(SLC4A11):c.472C>T (p.Leu158=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975636	NM_001174089.2(SLC4A11):c.1716C>T (p.Gly572=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	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 2970880	NM_001174089.2(SLC4A11):c.949-17T>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968082	NM_001174089.2(SLC4A11):c.1169-11C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963867	NM_001174089.2(SLC4A11):c.1043-13C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958982	NM_001174089.2(SLC4A11):c.1283-11C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958280	NM_001174089.2(SLC4A11):c.949-11C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956919	NM_001174089.2(SLC4A11):c.1042+12C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955253	NM_001174089.2(SLC4A11):c.669C>T (p.Asn223=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919967	NM_001174089.2(SLC4A11):c.1849+11G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919349	NM_001174089.2(SLC4A11):c.857_858del (p.Arg286fs)	SLC4A11 (R267fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2919219	NM_001174089.2(SLC4A11):c.2389-20C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918348	NM_001174089.2(SLC4A11):c.1490-14G>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917560	NM_001174089.2(SLC4A11):c.1849+19G>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917147	NM_001174089.2(SLC4A11):c.2019-15G>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916709	NM_001174089.2(SLC4A11):c.1043-17_1043-16dup	SLC4A11	Duplication (intron variant)	not provided	GLikely benign
Select item 2916301	NM_001174089.2(SLC4A11):c.1415+16G>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915938	NM_001174089.2(SLC4A11):c.524-14C>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign

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