SLC4A9[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 3165162	NM_031467.3(SLC4A9):c.46G>A (p.Ala16Thr)	SLC4A9 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508588	NM_031467.3(SLC4A9):c.49C>T (p.Pro17Ser)	SLC4A9 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257921	NM_031467.3(SLC4A9):c.98C>T (p.Thr33Ile)	SLC4A9 (T33I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514418	NM_031467.3(SLC4A9):c.113A>C (p.Asp38Ala)	SLC4A9 (D38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371243	NM_031467.3(SLC4A9):c.206C>T (p.Ala69Val)	SLC4A9 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298731	NM_031467.3(SLC4A9):c.271C>T (p.Arg91Trp)	SLC4A9 (R115W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290868	NM_031467.3(SLC4A9):c.272G>A (p.Arg91Gln)	SLC4A9 (R91Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320002	NM_031467.3(SLC4A9):c.340G>A (p.Glu114Lys)	SLC4A9 (E114K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380473	NM_031467.3(SLC4A9):c.388G>A (p.Val130Met)	SLC4A9 (V130M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553549	NM_031467.3(SLC4A9):c.500G>A (p.Cys167Tyr)	SLC4A9 (C191Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333126	NM_031467.3(SLC4A9):c.512C>T (p.Thr171Ile)	SLC4A9 (T171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338356	NM_031467.3(SLC4A9):c.540G>T (p.Glu180Asp)	SLC4A9 (E180D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165163	NM_031467.3(SLC4A9):c.599C>G (p.Ala200Gly)	SLC4A9 (A200G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165164	NM_031467.3(SLC4A9):c.779G>A (p.Arg260Gln)	SLC4A9 (R260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222397	NM_031467.3(SLC4A9):c.806C>T (p.Pro269Leu)	SLC4A9 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204304	NM_031467.3(SLC4A9):c.865G>C (p.Asp289His)	SLC4A9 (D289H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320003	NM_031467.3(SLC4A9):c.895C>T (p.Pro299Ser)	SLC4A9 (P323S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488785	NM_031467.3(SLC4A9):c.905G>A (p.Arg302Gln)	SLC4A9 (R302Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398490	NM_031467.3(SLC4A9):c.928C>A (p.Pro310Thr)	SLC4A9 (P310T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741954	NM_031467.3(SLC4A9):c.933G>A (p.Pro311=)	SLC4A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377884	NM_031467.3(SLC4A9):c.934C>T (p.Pro312Ser)	SLC4A9 (P312S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559584	NM_031467.3(SLC4A9):c.941G>A (p.Cys314Tyr)	SLC4A9 (C338Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239486	NM_031467.3(SLC4A9):c.967C>G (p.Pro323Ala)	SLC4A9 (P347A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405619	NM_031467.3(SLC4A9):c.1042C>T (p.Pro348Ser)	SLC4A9 (P348S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478844	NM_031467.3(SLC4A9):c.1169C>T (p.Ser390Leu)	SLC4A9 (S390L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236917	NM_031467.3(SLC4A9):c.1250C>T (p.Ala417Val)	SLC4A9 (A417V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357095	NM_031467.3(SLC4A9):c.1418G>A (p.Arg473His)	SLC4A9 (R462H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271775	NM_031467.3(SLC4A9):c.1421T>C (p.Leu474Pro)	SLC4A9 (L463P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165154	NM_031467.3(SLC4A9):c.1423T>C (p.Trp475Arg)	SLC4A9 (W475R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487133	NM_031467.3(SLC4A9):c.1445C>A (p.Thr482Asn)	SLC4A9 (T471N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204684	NM_031467.3(SLC4A9):c.1474G>C (p.Ala492Pro)	SLC4A9 (A481P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530900	NM_031467.3(SLC4A9):c.1477A>G (p.Ser493Gly)	SLC4A9 (S493G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491501	NM_031467.3(SLC4A9):c.1489C>T (p.Arg497Cys)	SLC4A9 (R521C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165155	NM_031467.3(SLC4A9):c.1540A>T (p.Ile514Phe)	SLC4A9 (I538F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792011	NM_031467.3(SLC4A9):c.1651+9G>C	SLC4A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2293821	NM_031467.3(SLC4A9):c.1711G>A (p.Asp571Asn)	SLC4A9 (D557N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320005	NM_031467.3(SLC4A9):c.1729G>A (p.Ala577Thr)	SLC4A9 (A563T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459941	NM_031467.3(SLC4A9):c.1759C>T (p.Arg587Trp)	SLC4A9 (R587W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165156	NM_031467.3(SLC4A9):c.1760G>A (p.Arg587Gln)	SLC4A9 (R573Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389663	NM_031467.3(SLC4A9):c.1778G>A (p.Arg593His)	SLC4A9 (R579H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542934	NM_031467.3(SLC4A9):c.1796C>T (p.Thr599Ile)	SLC4A9 (T585I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476852	NM_031467.3(SLC4A9):c.1816T>C (p.Phe606Leu)	SLC4A9 (F592L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478480	NM_031467.3(SLC4A9):c.1838C>T (p.Thr613Ile)	SLC4A9 (T613I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528190	NM_031467.3(SLC4A9):c.1882C>T (p.Arg628Cys)	SLC4A9 (R614C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728151	NM_031467.3(SLC4A9):c.1899+9C>T	SLC4A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3165157	NM_031467.3(SLC4A9):c.1918G>A (p.Asp640Asn)	SLC4A9 (D626N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301743	NM_031467.3(SLC4A9):c.1984C>G (p.Pro662Ala)	SLC4A9 (P648A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165158	NM_031467.3(SLC4A9):c.2021T>C (p.Leu674Pro)	SLC4A9 (L698P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399949	NM_031467.3(SLC4A9):c.2029C>T (p.Arg677Cys)	SLC4A9 (R614C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287302	NM_031467.3(SLC4A9):c.2056G>C (p.Ala686Pro)	SLC4A9 (A710P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320004	NM_031467.3(SLC4A9):c.2080G>A (p.Ala694Thr)	SLC4A9 (A680T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520852	NM_031467.3(SLC4A9):c.2237C>T (p.Ala746Val)	SLC4A9 (A732V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493151	NM_031467.3(SLC4A9):c.2296C>G (p.Leu766Val)	SLC4A9 (L703V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492767	NM_031467.3(SLC4A9):c.2326G>A (p.Gly776Arg)	SLC4A9 (G762R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386293	NM_031467.3(SLC4A9):c.2338A>C (p.Asn780His)	SLC4A9 (N717H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372272	NM_031467.3(SLC4A9):c.2393C>T (p.Thr798Ile)	SLC4A9 (T798I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165160	NM_031467.3(SLC4A9):c.2578A>G (p.Arg860Gly)	ANKHD1-DT, SLC4A9 (R797G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3165161	NM_031467.3(SLC4A9):c.2633T>C (p.Ile878Thr)	ANKHD1-DT, SLC4A9 (I878T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2285669	NM_031467.3(SLC4A9):c.2641A>C (p.Thr881Pro)	ANKHD1-DT, SLC4A9 (T881P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294747	NM_031467.3(SLC4A9):c.2660T>C (p.Phe887Ser)	ANKHD1-DT, SLC4A9 (F824S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205561	NM_031467.3(SLC4A9):c.2692C>G (p.Arg898Gly)	ANKHD1-DT, SLC4A9 (R898G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236764	NM_031467.3(SLC4A9):c.2710G>A (p.Val904Ile)	ANKHD1-DT, SLC4A9 (V841I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470520	NM_031467.3(SLC4A9):c.2758G>C (p.Glu920Gln)	ANKHD1-DT, SLC4A9 (E920Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221458	NM_031467.3(SLC4A9):c.2786T>C (p.Leu929Pro)	ANKHD1-DT, SLC4A9 (L915P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215704	NM_031467.3(SLC4A9):c.2866A>C (p.Ile956Leu)	ANKHD1-DT, SLC4A9 (I893L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	IGIP, IK +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 686048	GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	ANKHD1, ANKHD1-EIF4EBP3 +15 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 82