SLC4A10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 154464	GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1	TANK-AS1, TBR1 +58 more	Copy number loss	See cases	GLikely pathogenic
Select item 2268771	NM_001178015.2(SLC4A10):c.7A>G (p.Ile3Val)	SLC4A10 (I3V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2663532	NM_001178015.2(SLC4A10):c.16C>T (p.Gln6Ter)	SLC4A10 (Q6*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3038020	NM_001178015.2(SLC4A10):c.49-62158T>G	SLC4A10 (S23A)	Single nucleotide variant (missense variant +2 more)	SLC4A10-related disorder	GBenign
Select item 746851	NM_001178015.2(SLC4A10):c.75T>C (p.Asp25=)	SLC4A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3165018	NM_001178015.2(SLC4A10):c.100A>C (p.Lys34Gln)	SLC4A10 (K46Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2636730	NM_001178015.2(SLC4A10):c.130+1G>A	SLC4A10	Single nucleotide variant (splice donor variant)	SLC4A10-related disorder	GUncertain significance
Select item 3319925	NM_001178015.2(SLC4A10):c.172G>C (p.Gly58Arg)	SLC4A10 (G69R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3165019	NM_001178015.2(SLC4A10):c.182G>C (p.Ser61Thr)	SLC4A10 (S72T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2410606	NM_001178015.2(SLC4A10):c.191G>A (p.Arg64His)	SLC4A10 (R76H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2633147	NM_001178015.2(SLC4A10):c.211A>G (p.Lys71Glu)	SLC4A10 (K71E +2 more)	Single nucleotide variant (missense variant +2 more)	SLC4A10-related disorder	GUncertain significance
Select item 3165020	NM_001178015.2(SLC4A10):c.238G>A (p.Asp80Asn)	SLC4A10 (D91N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2246510	NM_001178015.2(SLC4A10):c.307C>T (p.Leu103Phe)	SLC4A10 (L103F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623824	NM_001178015.2(SLC4A10):c.335A>G (p.His112Arg)	SLC4A10 (H112R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 448417	NM_001178015.2(SLC4A10):c.337A>G (p.Ile113Val)	SLC4A10 (I113V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278332	NM_001178015.2(SLC4A10):c.341C>A (p.Pro114His)	SLC4A10 (P114H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 586611	NM_001178015.2(SLC4A10):c.393C>T (p.Asp131=)	SLC4A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3027499	NM_001178015.2(SLC4A10):c.417-1341del	SLC4A10	Deletion (intron variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 2398776	NM_001178015.2(SLC4A10):c.533C>G (p.Thr178Ser)	SLC4A10 (T178S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319928	NM_001178015.2(SLC4A10):c.628C>T (p.Arg210Cys)	SLC4A10 (R17C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165023	NM_001178015.2(SLC4A10):c.644A>G (p.Glu215Gly)	SLC4A10 (E215G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510661	NM_001178015.2(SLC4A10):c.646G>A (p.Ala216Thr)	SLC4A10 (A227T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2921217	NM_001178015.2(SLC4A10):c.658C>T (p.Gln220Ter)	SLC4A10 (Q232* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3027508	NM_001178015.2(SLC4A10):c.667C>T (p.His223Tyr)	SLC4A10 (H174Y +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 2574983	NM_001178015.2(SLC4A10):c.682A>T (p.Lys228Ter)	SLC4A10 (K179* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2316116	NM_001178015.2(SLC4A10):c.793G>C (p.Ala265Pro)	SLC4A10 (A277P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396644	NM_001178015.2(SLC4A10):c.796C>T (p.Pro266Ser)	SLC4A10 (P266S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574737	NM_001178015.2(SLC4A10):c.858+1G>C	SLC4A10	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3050420	NM_001178015.2(SLC4A10):c.875A>T (p.Gln292Leu)	SLC4A10 (Q291L +3 more)	Single nucleotide variant (missense variant +1 more)	SLC4A10-related disorder	GLikely benign
Select item 1807481	NM_001178015.2(SLC4A10):c.882G>A (p.Gly294=)	SLC4A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2575562	NM_001178015.2(SLC4A10):c.979C>G (p.Pro327Ala)	SLC4A10 (P104A +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808837	NM_001178015.2(SLC4A10):c.980C>T (p.Pro327Leu)	SLC4A10 (P104L +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579784	NM_001178015.2(SLC4A10):c.1031G>A (p.Arg344Gln)	SLC4A10 (R121Q +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027505	NM_001178015.2(SLC4A10):c.1052G>C (p.Arg351Thr)	SLC4A10 (R128T +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 448413	NM_001178015.2(SLC4A10):c.1090G>A (p.Val364Ile)	SLC4A10 (V364I +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545995	NM_001178015.2(SLC4A10):c.1111T>G (p.Leu371Val)	SLC4A10 (L340V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518329	NM_001178015.2(SLC4A10):c.1233T>G (p.Asn411Lys)	SLC4A10 (N188K +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319923	NM_001178015.2(SLC4A10):c.1304G>A (p.Ser435Asn)	SLC4A10 (S356N +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340194	NM_001178015.2(SLC4A10):c.1357C>A (p.Pro453Thr)	SLC4A10 (P374T +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319924	NM_001178015.2(SLC4A10):c.1382C>T (p.Ala461Val)	SLC4A10 (A431V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283708	NM_001178015.2(SLC4A10):c.1402C>A (p.His468Asn)	SLC4A10 (H389N +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711117	NM_001178015.2(SLC4A10):c.1443-8del	SLC4A10	Deletion (intron variant)	not provided	GLikely benign
Select item 3319926	NM_001178015.2(SLC4A10):c.1546C>T (p.Leu516Phe)	SLC4A10 (L516F +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710546	NM_001178015.2(SLC4A10):c.1575C>A (p.Ile525=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2333497	NM_001178015.2(SLC4A10):c.1612C>T (p.Arg538Cys)	SLC4A10 (R459C +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574730	NM_001178015.2(SLC4A10):c.1619G>A (p.Ser540Asn)	SLC4A10 (S317N +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748230	NM_001178015.2(SLC4A10):c.1635C>T (p.Leu545=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586609	NM_001178015.2(SLC4A10):c.1636T>G (p.Phe546Val)	SLC4A10 (F546V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3049974	NM_001178015.2(SLC4A10):c.1655G>T (p.Gly552Val)	SLC4A10 (G329V +10 more)	Single nucleotide variant (missense variant)	SLC4A10-related disorder	GUncertain significance
Select item 2281472	NM_001178015.2(SLC4A10):c.1664A>G (p.Tyr555Cys)	SLC4A10 (Y524C +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342996	NM_001178015.2(SLC4A10):c.1730A>T (p.Lys577Met)	SLC4A10 (K354M +10 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1342974	NM_001178015.2(SLC4A10):c.[1730A>T;3308A>T]	SLC4A10 (K354M +21 more)	Single nucleotide variant (missense variant)	SLC4A10-related neurodevelopmental disorder	GLikely pathogenic
Select item 3027506	NM_001178015.2(SLC4A10):c.1864C>T (p.Arg622Trp)	SLC4A10 (R399W +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 3319927	NM_001178015.2(SLC4A10):c.1871C>G (p.Thr624Ser)	SLC4A10 (T604S +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732010	NM_001178015.2(SLC4A10):c.1896T>C (p.Ile632=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270680	NM_001178015.2(SLC4A10):c.1996T>C (p.Ser666Pro)	SLC4A10 (S443P +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152085	GRCh38/hg38 2q24.2(chr2:161929447-161947461)x3	SLC4A10	Copy number gain	See cases	GUncertain significance
Select item 2390878	NM_001178015.2(SLC4A10):c.2022T>G (p.Asn674Lys)	SLC4A10 (N643K +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514862	NM_001178015.2(SLC4A10):c.2023C>A (p.Pro675Thr)	SLC4A10 (P657T +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636300	NM_001178015.2(SLC4A10):c.2093T>C (p.Leu698Pro)	SLC4A10 (L475P +10 more)	Single nucleotide variant (missense variant)	SLC4A10-related disorder	GUncertain significance
Select item 2574721	NM_001178015.2(SLC4A10):c.2102C>T (p.Ser701Leu)	SLC4A10 (S478L +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2209129	NM_001178015.2(SLC4A10):c.2118G>T (p.Leu706Phe)	SLC4A10 (L675F +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481906	NM_001178015.2(SLC4A10):c.2131G>A (p.Val711Ile)	SLC4A10 (V723I +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380804	NM_001178015.2(SLC4A10):c.2138G>A (p.Arg713Gln)	SLC4A10 (R682Q +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319922	NM_001178015.2(SLC4A10):c.2152G>C (p.Asp718His)	SLC4A10 (D688H +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027507	NM_001178015.2(SLC4A10):c.2162A>G (p.Tyr721Cys)	SLC4A10 (Y498C +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 2612072	NM_001178015.2(SLC4A10):c.2191A>G (p.Ile731Val)	SLC4A10 (I700V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791118	NM_001178015.2(SLC4A10):c.2226C>T (p.Thr742=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2302669	NM_001178015.2(SLC4A10):c.2240A>G (p.Lys747Arg)	SLC4A10 (K668R +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456799	NM_001178015.2(SLC4A10):c.2243C>G (p.Thr748Ser)	SLC4A10 (T669S +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342971	NM_001178015.2(SLC4A10):c.2269C>T (p.Arg757Ter)	SLC4A10 (R534* +10 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2574742	NM_001178015.2(SLC4A10):c.2314A>G (p.Met772Val)	SLC4A10 (M549V +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448414	NM_001178015.2(SLC4A10):c.2368A>G (p.Ser790Gly)	SLC4A10 (S790G +10 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1342973	NM_001178015.2(SLC4A10):c.2619G>A (p.Trp873Ter)	SLC4A10 (W650* +10 more)	Single nucleotide variant (nonsense)	SLC4A10-related neurodevelopmental disorder	GLikely pathogenic
Select item 1256613	NM_001178015.2(SLC4A10):c.2652T>C (p.His884=)	SLC4A10	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2576740	NM_001178015.2(SLC4A10):c.2710C>T (p.Leu904Phe)	SLC4A10 (L681F +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712930	NM_001178015.2(SLC4A10):c.2712C>T (p.Leu904=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1342972	NM_001178015.2(SLC4A10):c.2863-2A>C	SLC4A10	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2574729	NM_001178015.2(SLC4A10):c.2873G>A (p.Arg958Lys)	SLC4A10 (R735K +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027504	NM_001178015.2(SLC4A10):c.2894C>T (p.Pro965Leu)	SLC4A10 (P742L +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	GPathogenic
Select item 799114	NM_001178015.2(SLC4A10):c.3027T>C (p.Phe1009=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586610	NM_001178015.2(SLC4A10):c.3120C>T (p.Pro1040=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2574731	NM_001178015.2(SLC4A10):c.3121G>A (p.Glu1041Lys)	SLC4A10 (E1010K +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448415	NM_001178015.2(SLC4A10):c.3166C>G (p.Gln1056Glu)	SLC4A10 (Q1056E +10 more)	Single nucleotide variant (missense variant)	SLC4A10-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 448416	NM_001178015.2(SLC4A10):c.3183G>A (p.Met1061Ile)	SLC4A10 (M1061I +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165021	NM_001178015.2(SLC4A10):c.3223T>A (p.Tyr1075Asn)	SLC4A10 (Y1055N +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259311	NM_001178015.2(SLC4A10):c.3236C>A (p.Pro1079Gln)	SLC4A10 (P856Q +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607563	NM_001178015.2(SLC4A10):c.3250A>G (p.Ile1084Val)	SLC4A10 (I1005V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454379	NM_001178015.2(SLC4A10):c.3265T>C (p.Ser1089Pro)	SLC4A10 (S1071P +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214949	NM_001178015.2(SLC4A10):c.3274G>A (p.Ala1092Thr)	SLC4A10 (A1074T +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757535	NM_001178015.2(SLC4A10):c.3303C>T (p.Ala1101=)	SLC4A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342997	NM_001178015.2(SLC4A10):c.3308A>T (p.Asn1103Ile)	SLC4A10 (N1024I +10 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3319920	NM_001178015.2(SLC4A10):c.3338C>A (p.Ser1113Tyr)	SLC4A10 (S1093Y +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620031	NM_001178015.2(SLC4A10):c.3345C>A (p.Ser1115Arg)	SLC4A10 (S1095R +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165022	NM_001178015.2(SLC4A10):c.3350C>T (p.Pro1117Leu)	SLC4A10 (P1098L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic

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