ClinVar for Gene (Select 83697) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3165162	NM_031467.3(SLC4A9):c.46G>A (p.Ala16Thr)	SLC4A9 (A16T)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 2514418	NM_031467.3(SLC4A9):c.113A>C (p.Asp38Ala)	SLC4A9 (D38A)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2371243	NM_031467.3(SLC4A9):c.206C>T (p.Ala69Val)	SLC4A9 (A69V)	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 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 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 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 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 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 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 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 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 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 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 2257921	NM_031467.3(SLC4A9):c.98C>T (p.Thr33Ile)	SLC4A9 (T33I)	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 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 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 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 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 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 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 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 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	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 792011	NM_031467.3(SLC4A9):c.1651+9G>C	SLC4A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741954	NM_031467.3(SLC4A9):c.933G>A (p.Pro311=)	SLC4A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728151	NM_031467.3(SLC4A9):c.1899+9C>T	SLC4A9	Single nucleotide variant (intron variant)	not provided	GBenign
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	CCDC69, CCNH +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
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 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 82