ClinVar for Gene (Select 20) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067860	NM_001606.5(ABCA2):c.2861G>A (p.Arg954His)	ABCA2 (R953H +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GUncertain significance
Select item 3067316	NM_001606.5(ABCA2):c.1866G>A (p.Val622=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065272	NM_001606.5(ABCA2):c.3568G>A (p.Asp1190Asn)	ABCA2 (D1189N +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GUncertain significance
Select item 3065045	NM_001606.5(ABCA2):c.42C>G (p.Asn14Lys)	ABCA2, LINC02908 (N14K)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3059568	NM_001606.5(ABCA2):c.491G>A (p.Arg164His)	ABCA2 (R163H +2 more)	Single nucleotide variant (missense variant)	ABCA2-related condition	GBenign
Select item 3058960	NM_001606.5(ABCA2):c.275C>G (p.Thr92Arg)	ABCA2 (T122R +2 more)	Single nucleotide variant (missense variant)	ABCA2-related condition	GUncertain significance
Select item 3058730	NM_001606.5(ABCA2):c.7164C>T (p.Leu2388=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3058663	NM_001606.5(ABCA2):c.6324G>A (p.Thr2108=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3058416	NM_001606.5(ABCA2):c.7176G>A (p.Arg2392=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3057482	NM_001606.5(ABCA2):c.3144C>T (p.Ser1048=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3055588	NM_001606.5(ABCA2):c.4371A>C (p.Ala1457=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3055499	NM_001606.5(ABCA2):c.1412G>A (p.Arg471His)	ABCA2 (R470H +2 more)	Single nucleotide variant (missense variant)	ABCA2-related condition	GLikely benign
Select item 3053840	NM_001606.5(ABCA2):c.4422C>T (p.Thr1474=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3053169	NM_001606.5(ABCA2):c.6624C>T (p.Ile2208=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3052621	NM_001606.5(ABCA2):c.3081C>T (p.Asn1027=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3051602	NM_001606.5(ABCA2):c.1266-6C>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related condition	GLikely benign
Select item 3050564	NM_001606.5(ABCA2):c.276-7G>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related condition	GLikely benign
Select item 3045894	NM_001606.5(ABCA2):c.5808G>A (p.Lys1936=)	ABCA2, LOC126860796	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3045144	NM_001606.5(ABCA2):c.5535+3G>A	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related condition	GLikely benign
Select item 3045055	NM_001606.5(ABCA2):c.4785G>C (p.Ser1595=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3044326	NM_001606.5(ABCA2):c.4542C>T (p.Arg1514=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3043352	NM_001606.5(ABCA2):c.3849C>T (p.Ala1283=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3042485	NM_001606.5(ABCA2):c.5517G>A (p.Ala1839=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3042255	NM_001606.5(ABCA2):c.398C>T (p.Ala133Val)	ABCA2 (A132V +2 more)	Single nucleotide variant (missense variant)	ABCA2-related condition	GLikely benign
Select item 3041634	NM_001606.5(ABCA2):c.801T>G (p.Ala267=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GBenign
Select item 3041628	NM_001606.5(ABCA2):c.5126C>T (p.Ala1709Val)	ABCA2 (A1708V +2 more)	Single nucleotide variant (missense variant)	ABCA2-related condition	GUncertain significance
Select item 3041390	NM_001606.5(ABCA2):c.4779A>C (p.Pro1593=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3040970	NM_001606.5(ABCA2):c.2532G>A (p.Thr844=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3035769	NM_001606.5(ABCA2):c.5604G>A (p.Thr1868=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition	GLikely benign
Select item 3035011	NM_001606.5(ABCA2):c.160+9G>A	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related condition	GLikely benign
Select item 3034960	NM_001606.5(ABCA2):c.3318-9C>G	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related condition	GLikely benign
Select item 3034434	NM_001606.5(ABCA2):c.163+10C>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related condition	GLikely benign
Select item 3025291	NM_001606.5(ABCA2):c.5408T>C (p.Met1803Thr)	ABCA2 (M1802T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025271	NM_001606.5(ABCA2):c.3678C>T (p.Ala1226=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3025243	NM_001606.5(ABCA2):c.7224C>T (p.Pro2408=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025209	NM_001606.5(ABCA2):c.2568G>A (p.Thr856=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition +1 more	GBenign/Likely benign
Select item 3025041	NM_001606.5(ABCA2):c.2382G>A (p.Ala794=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771649	NM_001606.5(ABCA2):c.3776G>T (p.Arg1259Leu)	ABCA2 (R1289L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690797	NM_001606.5(ABCA2):c.923C>G (p.Ser308Trp)	ABCA2 (S307W +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GUncertain significance
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2659794	NM_212533.3(ABCA2):c.6G>A (p.Gly2=)	ABCA2, LINC02908	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659793	NM_001606.5(ABCA2):c.275+8C>T	ABCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659792	NM_001606.5(ABCA2):c.705G>A (p.Leu235=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659791	NM_001606.5(ABCA2):c.942G>A (p.Ala314=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659790	NM_001606.5(ABCA2):c.1122G>T (p.Gly374=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659789	NM_001606.5(ABCA2):c.1173A>T (p.Ala391=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659788	NM_001606.5(ABCA2):c.1188G>A (p.Pro396=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659787	NM_001606.5(ABCA2):c.1728C>T (p.Ser576=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659786	NM_001606.5(ABCA2):c.1863C>T (p.His621=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related condition +1 more	GLikely benign
Select item 2659785	NM_001606.5(ABCA2):c.1941G>A (p.Gly647=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659784	NM_001606.5(ABCA2):c.2181C>T (p.Ile727=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659783	NM_001606.5(ABCA2):c.2214G>A (p.Val738=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659782	NM_001606.5(ABCA2):c.2307C>T (p.Thr769=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659781	NM_001606.5(ABCA2):c.3168C>T (p.Ile1056=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659780	NM_001606.5(ABCA2):c.3453G>A (p.Thr1151=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659779	NM_001606.5(ABCA2):c.4056T>C (p.Ser1352=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659778	NM_001606.5(ABCA2):c.4293C>T (p.Asp1431=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659777	NM_001606.5(ABCA2):c.4350C>T (p.Cys1450=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659776	NM_001606.5(ABCA2):c.4521C>T (p.Pro1507=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659775	NM_001606.5(ABCA2):c.4541G>A (p.Arg1514His)	ABCA2 (R1513H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659774	NM_001606.5(ABCA2):c.4785G>A (p.Ser1595=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659773	NM_001606.5(ABCA2):c.4794A>C (p.Pro1598=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2659772	NM_001606.5(ABCA2):c.4950C>T (p.Phe1650=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659771	NM_001606.5(ABCA2):c.5385C>T (p.Ile1795=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659770	NM_001606.5(ABCA2):c.5400C>T (p.Ile1800=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659769	NM_001606.5(ABCA2):c.5799+8G>A	ABCA2, LOC126860796	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659768	NM_001606.5(ABCA2):c.5904C>T (p.Asn1968=)	ABCA2, LOC126860796	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659767	NM_001606.5(ABCA2):c.5924-5C>T	ABCA2, LOC126860796	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659766	NM_001606.5(ABCA2):c.6312C>T (p.Asp2104=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659765	NM_001606.5(ABCA2):c.6321G>A (p.Thr2107=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659764	NM_001606.5(ABCA2):c.6486C>T (p.Asp2162=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2659763	NM_001606.5(ABCA2):c.6852G>C (p.Thr2284=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659762	NM_001606.5(ABCA2):c.7116G>A (p.Gln2372=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634932	NM_001606.5(ABCA2):c.6892C>T (p.Arg2298Trp)	ABCA2 (R2297W +2 more)	Single nucleotide variant (missense variant)	ABCA2-related condition	GUncertain significance
Select item 2629270	NM_001606.5(ABCA2):c.4069G>A (p.Ala1357Thr)	ABCA2 (A1356T +2 more)	Single nucleotide variant (missense variant)	ABCA2-related condition	GUncertain significance
Select item 2623952	NM_001606.5(ABCA2):c.5153T>C (p.Met1718Thr)	ABCA2 (M1718T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622001	NM_001606.5(ABCA2):c.364G>A (p.Glu122Lys)	ABCA2 (E121K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621553	NM_001606.5(ABCA2):c.481G>A (p.Glu161Lys)	ABCA2 (E160K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620109	NM_001606.5(ABCA2):c.1855C>T (p.Pro619Ser)	ABCA2 (P649S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614776	NM_001606.5(ABCA2):c.6496G>A (p.Val2166Met)	ABCA2 (V2166M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609006	NM_001606.5(ABCA2):c.3850G>A (p.Ala1284Thr)	ABCA2 (A1283T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607200	NM_001606.5(ABCA2):c.6896T>G (p.Phe2299Cys)	ABCA2 (F2299C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605113	NM_001606.5(ABCA2):c.4774C>T (p.Pro1592Ser)	ABCA2 (P1591S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602252	NM_001606.5(ABCA2):c.4702G>T (p.Ala1568Ser)	ABCA2 (A1567S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601950	NM_001606.5(ABCA2):c.3349C>T (p.Arg1117Trp)	ABCA2 (R1117W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585001	NM_001606.5(ABCA2):c.3776G>A (p.Arg1259His)	ABCA2 (R1258H +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GUncertain significance
Select item 2583076	NM_001606.5(ABCA2):c.732G>A (p.Ser244=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580911	NM_001606.5(ABCA2):c.6630_6630+1del	ABCA2	Deletion (splice donor variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GPathogenic
Select item 2580668	NM_001606.5(ABCA2):c.862C>T (p.Arg288Trp)	ABCA2 (R287W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580626	NM_001606.5(ABCA2):c.7238C>T (p.Thr2413Met)	ABCA2 (T2412M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579081	NM_001606.5(ABCA2):c.2923+3G>A	ABCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579080	NM_001606.5(ABCA2):c.5763G>T (p.Val1921=)	ABCA2, LOC126860796	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2576968	NM_001606.5(ABCA2):c.5923+1G>A	LOC126860796, ABCA2	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2572524	NM_001606.5(ABCA2):c.1850del (p.Ser617fs)	ABCA2 (S616fs +2 more)	Deletion (frameshift variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GPathogenic
Select item 2571350	NM_001606.5(ABCA2):c.2559C>T (p.Leu853=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569868	NM_001606.5(ABCA2):c.4282C>T (p.Arg1428Cys)	ABCA2 (R1458C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564923	NM_001606.5(ABCA2):c.6538G>A (p.Ala2180Thr)	ABCA2 (A2180T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2558417	NM_001606.5(ABCA2):c.2954C>T (p.Thr985Ile)	ABCA2 (T1015I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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