6508[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 2484695	NM_005070.4(SLC4A3):c.23C>T (p.Pro8Leu)	SLC4A3 (P8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165082	NM_005070.4(SLC4A3):c.28G>A (p.Gly10Arg)	SLC4A3 (G10R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165093	NM_005070.4(SLC4A3):c.73C>A (p.Pro25Thr)	SLC4A3 (P25T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357001	NM_005070.4(SLC4A3):c.74C>G (p.Pro25Arg)	SLC4A3 (P25R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64553	NM_005070.4(SLC4A3):c.146A>G (p.Asp49Gly)	SLC4A3 (D49G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775826	NM_005070.4(SLC4A3):c.161C>T (p.Pro54Leu)	SLC4A3 (P54L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2239197	NM_005070.4(SLC4A3):c.200G>A (p.Ser67Asn)	SLC4A3 (S67N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319964	NM_005070.4(SLC4A3):c.205C>T (p.Arg69Trp)	SLC4A3 (R69W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2651937	NM_005070.4(SLC4A3):c.218-5C>T	SLC4A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3165080	NM_005070.4(SLC4A3):c.224G>A (p.Arg75Gln)	SLC4A3 (R75Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519195	NM_005070.4(SLC4A3):c.262C>T (p.Arg88Cys)	SLC4A3 (R88C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165083	NM_005070.4(SLC4A3):c.301A>C (p.Thr101Pro)	SLC4A3 (T101P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042967	NM_005070.4(SLC4A3):c.310C>T (p.Arg104Trp)	SLC4A3 (R104W)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 3341518	NM_005070.4(SLC4A3):c.311G>A (p.Arg104Gln)	SLC4A3 (R104Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3319965	NM_005070.4(SLC4A3):c.321G>C (p.Arg107Ser)	SLC4A3 (R107S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242807	NM_005070.4(SLC4A3):c.352C>T (p.Pro118Ser)	SLC4A3 (P118S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2651938	NM_005070.4(SLC4A3):c.360C>T (p.Ser120=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 64557	NM_005070.4(SLC4A3):c.371C>T (p.Pro124Leu)	SLC4A3 (P124L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3165089	NM_005070.4(SLC4A3):c.388G>C (p.Gly130Arg)	SLC4A3 (G130R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588505	NM_005070.4(SLC4A3):c.394G>A (p.Ala132Thr)	SLC4A3 (A132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165091	NM_005070.4(SLC4A3):c.464C>T (p.Pro155Leu)	SLC4A3 (P155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165090	NM_005070.4(SLC4A3):c.464C>G (p.Pro155Arg)	SLC4A3 (P155R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612671	NM_005070.4(SLC4A3):c.466C>A (p.Pro156Thr)	SLC4A3 (P156T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258585	NM_005070.4(SLC4A3):c.469C>T (p.His157Tyr)	SLC4A3 (H157Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3345621	NM_005070.4(SLC4A3):c.511G>C (p.Asp171His)	SLC4A3 (D171H)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GUncertain significance
Select item 2334734	NM_005070.4(SLC4A3):c.541A>G (p.Arg181Gly)	SLC4A3 (R181G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544940	NM_005070.4(SLC4A3):c.569C>T (p.Ser190Leu)	SLC4A3 (S190L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398062	NM_005070.4(SLC4A3):c.612-44G>A	SLC4A3 (D217N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165092	NM_005070.4(SLC4A3):c.612-26C>T	SLC4A3 (P223S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2490620	NM_005070.4(SLC4A3):c.612-22G>A	SLC4A3 (R224K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409486	NM_005070.4(SLC4A3):c.619A>C (p.Ser207Arg)	SLC4A3 (S234R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386810	NM_005070.4(SLC4A3):c.646G>A (p.Ala216Thr)	SLC4A3 (A216T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319963	NM_005070.4(SLC4A3):c.661C>T (p.Arg221Trp)	SLC4A3 (R221W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64558	NM_005070.4(SLC4A3):c.664C>A (p.Pro222Thr)	SLC4A3 (P222T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2454800	NM_005070.4(SLC4A3):c.672C>G (p.Ser224Arg)	SLC4A3 (S224R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64559	NM_005070.4(SLC4A3):c.681C>T (p.Ala227=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2407607	NM_005070.4(SLC4A3):c.733G>C (p.Gly245Arg)	SLC4A3 (G272R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1279077	NM_005070.4(SLC4A3):c.811+93A>C	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3165094	NM_005070.4(SLC4A3):c.872C>T (p.Thr291Met)	SLC4A3 (T318M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334470	NM_005070.4(SLC4A3):c.880G>A (p.Gly294Arg)	SLC4A3 (G294R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165095	NM_005070.4(SLC4A3):c.916C>T (p.Arg306Cys)	SLC4A3 (R333C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378223	NM_005070.4(SLC4A3):c.917G>A (p.Arg306His)	SLC4A3 (R306H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319968	NM_005070.4(SLC4A3):c.929A>G (p.Lys310Arg)	SLC4A3 (K310R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311925	NM_005070.4(SLC4A3):c.950G>C (p.Arg317Thr)	SLC4A3 (R344T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319966	NM_005070.4(SLC4A3):c.1016G>A (p.Arg339Gln)	SLC4A3 (R339Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3374734	NM_005070.4(SLC4A3):c.1027C>T (p.Arg343Cys)	SLC4A3 (R343C +1 more)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7	GLikely pathogenic
Select item 2443882	NM_005070.4(SLC4A3):c.1028G>A (p.Arg343His)	SLC4A3 (R343H)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7	GPathogenic
Select item 3319967	NM_005070.4(SLC4A3):c.1064C>T (p.Thr355Met)	SLC4A3 (T382M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165074	NM_005070.4(SLC4A3):c.1094C>T (p.Ser365Leu)	SLC4A3 (S365L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288188	NM_005070.4(SLC4A3):c.1106G>A (p.Arg369His)	SLC4A3 (R369H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265150	NM_005070.4(SLC4A3):c.1135G>A (p.Ala379Thr)	SLC4A3 (A379T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3379428	NM_005070.4(SLC4A3):c.1144G>A (p.Ala382Thr)	SLC4A3 (A382T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 773434	NM_005070.4(SLC4A3):c.1248C>T (p.Ser416=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2215865	NM_005070.4(SLC4A3):c.1288G>A (p.Asp430Asn)	SLC4A3 (D430N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165075	NM_005070.4(SLC4A3):c.1316G>A (p.Arg439Gln)	SLC4A3 (R466Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 742561	NM_005070.4(SLC4A3):c.1323A>G (p.Pro441=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2210546	NM_005070.4(SLC4A3):c.1343C>T (p.Ser448Leu)	SLC4A3 (S475L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2665088	NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu)	SLC4A3 (K486E +1 more)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7	GUncertain significance
Select item 1286245	NM_005070.4(SLC4A3):c.1461+171G>C	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3255062	NM_005070.4(SLC4A3):c.1486G>A (p.Asp496Asn)	SLC4A3 (D496N +1 more)	Single nucleotide variant (missense variant +1 more)	Short QT syndrome 7	GUncertain significance
Select item 3346168	NM_005070.4(SLC4A3):c.1589C>T (p.Ala530Val)	SLC4A3 (A530V +1 more)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GUncertain significance
Select item 2411117	NM_005070.4(SLC4A3):c.1594G>A (p.Ala532Thr)	SLC4A3 (A532T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165077	NM_005070.4(SLC4A3):c.1600G>A (p.Val534Met)	SLC4A3 (V534M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3354383	NM_005070.4(SLC4A3):c.1604G>A (p.Arg535His)	SLC4A3 (R535H +1 more)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GUncertain significance
Select item 3047547	NM_005070.4(SLC4A3):c.1610A>G (p.Asn537Ser)	SLC4A3 (N537S +1 more)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 2308928	NM_005070.4(SLC4A3):c.1684A>G (p.Ser562Gly)	SLC4A3 (S589G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203804	NM_005070.4(SLC4A3):c.1781G>A (p.Arg594Gln)	SLC4A3 (R594Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2352606	NM_005070.4(SLC4A3):c.1807G>A (p.Glu603Lys)	SLC4A3 (E603K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2651939	NM_005070.4(SLC4A3):c.1839G>A (p.Pro613=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2354653	NM_005070.4(SLC4A3):c.1933G>A (p.Glu645Lys)	SLC4A3 (E645K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3379429	NM_005070.4(SLC4A3):c.1951G>A (p.Gly651Ser)	SLC4A3 (G651S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3165078	NM_005070.4(SLC4A3):c.1960G>A (p.Ala654Thr)	SLC4A3 (A654T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1260183	NM_005070.4(SLC4A3):c.1973-74C>G	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044649	NM_005070.4(SLC4A3):c.1990G>A (p.Gly664Arg)	SLC4A3 (G664R +1 more)	Single nucleotide variant (missense variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 2346570	NM_005070.4(SLC4A3):c.2003C>T (p.Ala668Val)	SLC4A3 (A668V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 769591	NM_005070.4(SLC4A3):c.2004= (p.Ala668=)	SLC4A3	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2607052	NM_005070.4(SLC4A3):c.2033C>T (p.Thr678Met)	SLC4A3 (T678M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459009	NM_005070.4(SLC4A3):c.2039C>T (p.Ser680Leu)	SLC4A3 (S680L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165079	NM_005070.4(SLC4A3):c.2048G>A (p.Gly683Glu)	SLC4A3 (G710E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263468	NM_005070.4(SLC4A3):c.2102G>A (p.Arg701Gln)	SLC4A3 (R701Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3379430	NM_005070.4(SLC4A3):c.2131G>A (p.Ala711Thr)	SLC4A3 (A711T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379431	NM_005070.4(SLC4A3):c.2191+1G>T	SLC4A3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1220872	NM_005070.4(SLC4A3):c.2192-194G>C	SLC4A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775827	NM_005070.4(SLC4A3):c.2223C>T (p.Ser741=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3041174	NM_005070.4(SLC4A3):c.2232C>T (p.Ile744=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	SLC4A3-related disorder	GLikely benign
Select item 64554	NM_005070.4(SLC4A3):c.2233G>A (p.Val745Met)	SLC4A3 (V745M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549992	NM_005070.4(SLC4A3):c.2242G>A (p.Ala748Thr)	SLC4A3 (A748T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 767862	NM_005070.4(SLC4A3):c.2250C>T (p.Leu750=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2259640	NM_005070.4(SLC4A3):c.2330C>G (p.Ala777Gly)	SLC4A3 (A804G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517132	NM_005070.4(SLC4A3):c.2410G>A (p.Val804Ile)	SLC4A3 (V804I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521163	NM_005070.4(SLC4A3):c.2459C>T (p.Ser820Leu)	SLC4A3 (S847L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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