ClinVar for Gene (Select 9497) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319995	NM_001321103.2(SLC4A7):c.2186C>G (p.Thr729Ser)	SLC4A7 (T712S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319994	NM_001321103.2(SLC4A7):c.1013G>A (p.Arg338His)	SLC4A7 (R338H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319993	NM_001321103.2(SLC4A7):c.980G>A (p.Arg327His)	SLC4A7 (R318H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319992	NM_001321103.2(SLC4A7):c.158A>G (p.Tyr53Cys)	SLC4A7 (Y44C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319991	NM_001321103.2(SLC4A7):c.3197G>A (p.Arg1066His)	SLC4A7 (R1057H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319990	NM_001321103.2(SLC4A7):c.1795A>C (p.Lys599Gln)	SLC4A7 (K466Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319989	NM_001321103.2(SLC4A7):c.2293A>G (p.Asn765Asp)	SLC4A7 (N752D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3165144	NM_001321103.2(SLC4A7):c.61-4178G>C	SLC4A7 (R3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165143	NM_001321103.2(SLC4A7):c.911C>T (p.Ala304Val)	SLC4A7 (A295V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165142	NM_001321103.2(SLC4A7):c.881T>A (p.Leu294His)	SLC4A7 (L294H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165141	NM_001321103.2(SLC4A7):c.878A>G (p.His293Arg)	SLC4A7 (H276R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165140	NM_001321103.2(SLC4A7):c.574C>G (p.Leu192Val)	SLC4A7 (L192V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165139	NM_001321103.2(SLC4A7):c.3502C>T (p.Arg1168Trp)	SLC4A7 (R1035W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165138	NM_001321103.2(SLC4A7):c.3334G>C (p.Ala1112Pro)	SLC4A7 (A1103P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165137	NM_001321103.2(SLC4A7):c.3251G>A (p.Arg1084His)	SLC4A7 (R951H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165136	NM_001321103.2(SLC4A7):c.3129G>A (p.Met1043Ile)	SLC4A7 (M910I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165135	NM_001321103.2(SLC4A7):c.3043C>T (p.Arg1015Cys)	SLC4A7 (R891C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165134	NM_001321103.2(SLC4A7):c.2795G>A (p.Cys932Tyr)	SLC4A7 (C808Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165133	NM_001321103.2(SLC4A7):c.2747A>T (p.Asp916Val)	SLC4A7 (D792V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165132	NM_001321103.2(SLC4A7):c.2644A>G (p.Thr882Ala)	SLC4A7 (T749A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3165131	NM_001321103.2(SLC4A7):c.1715C>T (p.Thr572Ile)	SLC4A7 (T439I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3053863	NM_001321103.2(SLC4A7):c.2496T>C (p.Asp832=)	SLC4A7	Single nucleotide variant (synonymous variant +1 more)	SLC4A7-related disorder	GLikely benign
Select item 3051889	NM_001321103.2(SLC4A7):c.636C>T (p.Ser212=)	SLC4A7	Single nucleotide variant (synonymous variant +1 more)	SLC4A7-related disorder	GLikely benign
Select item 3050137	NM_001321103.2(SLC4A7):c.60G>A (p.Arg20=)	SLC4A7	Single nucleotide variant (synonymous variant +1 more)	SLC4A7-related disorder	GLikely benign
Select item 3049631	NM_001321103.2(SLC4A7):c.3698+8T>C	SLC4A7	Single nucleotide variant (intron variant)	SLC4A7-related disorder	GLikely benign
Select item 3042998	NM_001321103.2(SLC4A7):c.1513-3T>C	SLC4A7	Single nucleotide variant (intron variant)	SLC4A7-related disorder	GLikely benign
Select item 3039854	NM_001321103.2(SLC4A7):c.706C>A (p.Arg236=)	SLC4A7	Single nucleotide variant (synonymous variant +1 more)	SLC4A7-related disorder	GLikely benign
Select item 3034044	NM_001321103.2(SLC4A7):c.1227T>C (p.Ser409=)	SLC4A7	Single nucleotide variant (synonymous variant +1 more)	SLC4A7-related disorder	GLikely benign
Select item 3034030	NM_001321103.2(SLC4A7):c.2715A>G (p.Pro905=)	SLC4A7	Single nucleotide variant (synonymous variant +1 more)	SLC4A7-related disorder	GLikely benign
Select item 3033722	NM_001321103.2(SLC4A7):c.1093G>A (p.Glu365Lys)	SLC4A7 (E348K +3 more)	Single nucleotide variant (missense variant +2 more)	SLC4A7-related disorder	GLikely benign
Select item 2685908	GRCh37/hg19 3p24.1(chr3:27510304-27721198)x3	SLC4A7	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2653637	NM_001321103.2(SLC4A7):c.2141T>G (p.Ile714Ser)	SLC4A7 (I581S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2620277	NM_001321103.2(SLC4A7):c.608T>C (p.Met203Thr)	SLC4A7 (M203T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611124	NM_001321103.2(SLC4A7):c.286T>C (p.Tyr96His)	SLC4A7 (Y87H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603432	NM_001321103.2(SLC4A7):c.1688A>G (p.Asn563Ser)	SLC4A7 (N435S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537295	NM_001321103.2(SLC4A7):c.1052A>G (p.Asp351Gly)	SLC4A7 (D351G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525432	NM_001321103.2(SLC4A7):c.3472A>G (p.Lys1158Glu)	SLC4A7 (K1034E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509180	NM_001321103.2(SLC4A7):c.1460C>T (p.Ala487Val)	SLC4A7 (A470V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507943	NM_001321103.2(SLC4A7):c.3294G>C (p.Gln1098His)	SLC4A7 (Q1081H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487376	NM_001321103.2(SLC4A7):c.2330G>T (p.Cys777Phe)	SLC4A7 (C644F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484696	NM_001321103.2(SLC4A7):c.199C>T (p.Arg67Cys)	SLC4A7 (R58C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480171	NM_001321103.2(SLC4A7):c.1736A>C (p.His579Pro)	SLC4A7 (H570P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475285	NM_001321103.2(SLC4A7):c.1948A>G (p.Ile650Val)	SLC4A7 (I637V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411837	NM_001321103.2(SLC4A7):c.206G>A (p.Arg69Lys)	SLC4A7 (R60K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409734	NM_001321103.2(SLC4A7):c.1338C>G (p.Asp446Glu)	SLC4A7 (D322E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376345	NM_001321103.2(SLC4A7):c.200G>A (p.Arg67His)	SLC4A7 (R63H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374916	NM_001321103.2(SLC4A7):c.2905G>A (p.Val969Ile)	SLC4A7 (V956I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374026	NM_001321103.2(SLC4A7):c.812G>A (p.Arg271Gln)	SLC4A7 (R271Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333392	NM_001321103.2(SLC4A7):c.920G>C (p.Arg307Thr)	SLC4A7 (R290T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329926	NM_001321103.2(SLC4A7):c.2287A>G (p.Met763Val)	SLC4A7 (M746V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329832	NM_001321103.2(SLC4A7):c.2063A>G (p.Tyr688Cys)	SLC4A7 (Y671C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328332	NM_001321103.2(SLC4A7):c.800G>A (p.Arg267His)	SLC4A7 (R250H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2320884	NM_001321103.2(SLC4A7):c.910G>A (p.Ala304Thr)	SLC4A7 (A287T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307907	NM_001321103.2(SLC4A7):c.1950A>G (p.Ile650Met)	SLC4A7 (I522M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304451	NM_001321103.2(SLC4A7):c.3410A>C (p.Lys1137Thr)	SLC4A7 (K1128T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300408	NM_001321103.2(SLC4A7):c.61-4178G>A	SLC4A7 (R3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299997	NM_001321103.2(SLC4A7):c.3244T>C (p.Tyr1082His)	SLC4A7 (Y1065H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286118	NM_001321103.2(SLC4A7):c.604A>C (p.Asn202His)	SLC4A7 (N198H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277634	NM_001321103.2(SLC4A7):c.2909T>C (p.Met970Thr)	SLC4A7 (M842T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266112	NM_001321103.2(SLC4A7):c.1889C>G (p.Ser630Cys)	SLC4A7 (S506C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260831	NM_001321103.2(SLC4A7):c.2090C>G (p.Ser697Cys)	SLC4A7 (S573C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254709	NM_001321103.2(SLC4A7):c.2976T>G (p.His992Gln)	SLC4A7 (H859Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253503	NM_001321103.2(SLC4A7):c.3562C>A (p.Gln1188Lys)	SLC4A7 (Q1060K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809373	GRCh37/hg19 3p24.1(chr3:27020354-27440096)x3	NEK10, SLC4A7	Copy number gain	not provided	GUncertain significance
Select item 1809322	GRCh37/hg19 3p24.1(chr3:27428473-27672614)x3	SLC4A7	Copy number gain	not provided	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 814431	GRCh37/hg19 3p24.1(chr3:26711697-27483497)x3	NEK10, LRRC3B +1 more	Copy number gain	not provided	GUncertain significance
Select item 814430	GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1	AZI2, EOMES +6 more	Copy number loss	not provided	GUncertain significance
Select item 562763	GRCh37/hg19 3p24.1(chr3:27020353-27440096)x3	SLC4A7, NEK10	Copy number gain	not provided	GLikely benign
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 83