ClinVar for Gene (Select 6522) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319962	NM_003040.4(SLC4A2):c.9C>G (p.Ser3Arg)	SLC4A2 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319961	NM_003040.4(SLC4A2):c.175G>C (p.Gly59Arg)	SLC4A2 (G59R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319960	NM_003040.4(SLC4A2):c.3420T>A (p.His1140Gln)	SLC4A2 (H1131Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319958	NM_003040.4(SLC4A2):c.580A>C (p.Thr194Pro)	SLC4A2 (T180P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319957	NM_003040.4(SLC4A2):c.1072G>A (p.Glu358Lys)	SLC4A2 (E349K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319956	NM_003040.4(SLC4A2):c.2027G>A (p.Arg676Gln)	SLC4A2 (R676Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319955	NM_003040.4(SLC4A2):c.2339C>T (p.Ser780Leu)	SLC4A2 (S771L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319954	NM_003040.4(SLC4A2):c.596C>T (p.Ala199Val)	SLC4A2 (A185V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319953	NM_003040.4(SLC4A2):c.2621C>A (p.Ala874Glu)	SLC4A2 (A860E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319952	NM_003040.4(SLC4A2):c.2575A>G (p.Asn859Asp)	SLC4A2 (N845D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245697	NC_000007.13:g.(?_150643945)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 3165073	NM_003040.4(SLC4A2):c.695G>A (p.Ser232Asn)	SLC4A2 (S223N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165072	NM_003040.4(SLC4A2):c.586G>A (p.Val196Met)	SLC4A2 (V187M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165071	NM_003040.4(SLC4A2):c.530T>C (p.Leu177Pro)	SLC4A2 (L163P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165070	NM_003040.4(SLC4A2):c.503G>A (p.Arg168Lys)	SLC4A2 (R154K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165068	NM_003040.4(SLC4A2):c.385G>T (p.Asp129Tyr)	SLC4A2 (D120Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165067	NM_003040.4(SLC4A2):c.3611T>A (p.Leu1204His)	SLC4A2 (L1195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165066	NM_003040.4(SLC4A2):c.3490C>T (p.His1164Tyr)	SLC4A2 (H1164Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165065	NM_003040.4(SLC4A2):c.3332G>A (p.Arg1111Gln)	SLC4A2 (R1097Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165064	NM_003040.4(SLC4A2):c.2990G>C (p.Ser997Thr)	SLC4A2 (S988T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165063	NM_003040.4(SLC4A2):c.2915C>T (p.Ala972Val)	SLC4A2 (A958V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165062	NM_003040.4(SLC4A2):c.2869A>C (p.Thr957Pro)	SLC4A2 (T957P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165060	NM_003040.4(SLC4A2):c.2855A>T (p.Tyr952Phe)	SLC4A2 (Y952F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165059	NM_003040.4(SLC4A2):c.281G>A (p.Arg94His)	SLC4A2 (R94H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165058	NM_003040.4(SLC4A2):c.2639C>T (p.Pro880Leu)	SLC4A2 (P866L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165057	NM_003040.4(SLC4A2):c.2131G>A (p.Ala711Thr)	SLC4A2 (A702T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165056	NM_003040.4(SLC4A2):c.1575G>T (p.Glu525Asp)	SLC4A2 (E516D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165055	NM_003040.4(SLC4A2):c.1573G>C (p.Glu525Gln)	SLC4A2 (E525Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165054	NM_003040.4(SLC4A2):c.1471C>T (p.Pro491Ser)	SLC4A2 (P491S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165053	NM_003040.4(SLC4A2):c.1460C>T (p.Pro487Leu)	SLC4A2 (P487L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165052	NM_003040.4(SLC4A2):c.1423G>A (p.Glu475Lys)	SLC4A2 (E461K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165051	NM_003040.4(SLC4A2):c.1068G>C (p.Glu356Asp)	SLC4A2 (E356D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3067257	NM_003040.4(SLC4A2):c.2191+3G>A	SLC4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065296	NM_003040.4(SLC4A2):c.2048G>T (p.Gly683Val)	SLC4A2 (G669V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658179	NM_003040.4(SLC4A2):c.3627C>T (p.Thr1209=)	SLC4A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658178	NM_003040.4(SLC4A2):c.3516C>T (p.Leu1172=)	SLC4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658177	NM_003040.4(SLC4A2):c.459+4C>T	SLC4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658176	NM_003040.4(SLC4A2):c.320G>A (p.Arg107Gln)	SLC4A2 (R107Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658175	NM_003040.4(SLC4A2):c.162C>T (p.Ala54=)	SLC4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622431	NM_003040.4(SLC4A2):c.2938A>T (p.Ile980Phe)	SLC4A2 (I980F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613674	NM_003040.4(SLC4A2):c.3668C>G (p.Pro1223Arg)	SLC4A2 (P1209R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606722	NM_003040.4(SLC4A2):c.3136T>G (p.Cys1046Gly)	SLC4A2 (C1037G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605773	NM_003040.4(SLC4A2):c.3409G>A (p.Glu1137Lys)	SLC4A2 (E1128K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601826	NM_003040.4(SLC4A2):c.3252G>T (p.Gln1084His)	SLC4A2 (Q1070H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598028	NM_003040.4(SLC4A2):c.1255G>A (p.Val419Met)	SLC4A2 (V405M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592896	NM_003040.4(SLC4A2):c.2789G>A (p.Arg930Gln)	SLC4A2 (R916Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592396	NM_003040.4(SLC4A2):c.1318C>G (p.Arg440Gly)	SLC4A2 (R431G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591540	NM_003040.4(SLC4A2):c.1870C>T (p.Arg624Cys)	SLC4A2 (R615C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588460	NM_003040.4(SLC4A2):c.2858G>A (p.Ser953Asn)	SLC4A2 (S939N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2570067	NM_003040.4(SLC4A2):c.1759G>A (p.Glu587Lys)	SLC4A2 (E573K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566724	NM_003040.4(SLC4A2):c.2462G>A (p.Arg821His)	SLC4A2 (R821H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539722	NM_003040.4(SLC4A2):c.2570C>G (p.Ala857Gly)	SLC4A2 (A848G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538368	NM_003040.4(SLC4A2):c.931C>G (p.Arg311Gly)	SLC4A2 (R311G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535245	NM_003040.4(SLC4A2):c.1154T>C (p.Val385Ala)	SLC4A2 (V376A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533111	NM_003040.4(SLC4A2):c.34G>A (p.Ala12Thr)	SLC4A2 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519801	NM_003040.4(SLC4A2):c.635G>T (p.Gly212Val)	SLC4A2 (G203V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509731	NM_003040.4(SLC4A2):c.1570G>A (p.Val524Met)	SLC4A2 (V515M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509394	NM_003040.4(SLC4A2):c.938G>A (p.Arg313Gln)	SLC4A2 (R299Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500828	NM_003040.4(SLC4A2):c.1658T>C (p.Val553Ala)	SLC4A2 (V553A +2 more)	Single nucleotide variant (missense variant)	Osteopetrosis, autosomal recessive 9	GPathogenic
Select item 2500827	NM_003040.4(SLC4A2):c.556G>A (p.Ala186Thr)	SLC4A2 (A186T +2 more)	Single nucleotide variant (missense variant)	Osteopetrosis, autosomal recessive 9	GPathogenic
Select item 2492095	NM_003040.4(SLC4A2):c.302G>T (p.Gly101Val)	SLC4A2 (G87V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484944	NM_003040.4(SLC4A2):c.952C>G (p.His318Asp)	SLC4A2 (H309D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473632	NM_003040.4(SLC4A2):c.3193G>A (p.Ala1065Thr)	SLC4A2 (A1051T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469957	NM_003040.4(SLC4A2):c.791C>T (p.Thr264Met)	SLC4A2 (T250M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459912	NM_003040.4(SLC4A2):c.2683C>T (p.Arg895Trp)	SLC4A2 (R886W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456894	NM_003040.4(SLC4A2):c.2074C>T (p.Arg692Cys)	SLC4A2 (R692C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428571	NM_003040.4(SLC4A2):c.3632G>A (p.Arg1211Gln)	SLC4A2 (R1197Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2408056	NM_003040.4(SLC4A2):c.1483A>G (p.Ile495Val)	SLC4A2 (I481V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396824	NM_003040.4(SLC4A2):c.1966C>G (p.Gln656Glu)	SLC4A2 (Q642E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387068	NM_003040.4(SLC4A2):c.412C>T (p.Arg138Trp)	SLC4A2 (R124W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382540	NM_003040.4(SLC4A2):c.3485G>A (p.Arg1162His)	SLC4A2 (R1148H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368004	NM_003040.4(SLC4A2):c.841G>A (p.Val281Ile)	SLC4A2 (V267I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352816	NM_003040.4(SLC4A2):c.491G>A (p.Arg164Gln)	SLC4A2 (R164Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348822	NM_003040.4(SLC4A2):c.910C>T (p.Arg304Trp)	SLC4A2 (R290W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330644	NM_003040.4(SLC4A2):c.1457T>C (p.Leu486Pro)	SLC4A2 (L486P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324967	NM_003040.4(SLC4A2):c.584A>C (p.Gln195Pro)	SLC4A2 (Q181P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317936	NM_003040.4(SLC4A2):c.1022G>A (p.Arg341Gln)	SLC4A2 (R327Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308469	NM_003040.4(SLC4A2):c.1493C>T (p.Ser498Phe)	SLC4A2 (S484F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304793	NM_003040.4(SLC4A2):c.490C>T (p.Arg164Trp)	SLC4A2 (R150W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296391	NM_003040.4(SLC4A2):c.661C>T (p.Arg221Cys)	SLC4A2 (R221C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294051	NM_003040.4(SLC4A2):c.1254C>G (p.Asn418Lys)	SLC4A2 (N404K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269243	NM_003040.4(SLC4A2):c.2699C>T (p.Thr900Met)	SLC4A2 (T891M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257223	NM_003040.4(SLC4A2):c.286C>T (p.Arg96Cys)	SLC4A2 (R96C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246458	NM_003040.4(SLC4A2):c.2680C>G (p.Pro894Ala)	SLC4A2 (P885A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236598	NM_003040.4(SLC4A2):c.2084A>T (p.His695Leu)	SLC4A2 (H681L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226011	NM_003040.4(SLC4A2):c.1685C>T (p.Pro562Leu)	SLC4A2 (P553L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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