ClinVar for Gene (Select 20) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	GTF3C5, HMCN2 +147 more	Duplication	not provided	GUncertain significance
Select item 3239267	NM_001606.5(ABCA2):c.3190C>T (p.Arg1064Cys)	ABCA2 (R1063C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239243	NM_001606.5(ABCA2):c.4107G>A (p.Ser1369=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3234918	NM_001606.5(ABCA2):c.276-5T>C	ABCA2	Single nucleotide variant (intron variant)	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	GUncertain significance
Select item 3234488	NM_001606.5(ABCA2):c.6210C>T (p.Ala2070=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234374	NM_001606.5(ABCA2):c.4245G>A (p.Val1415=)	ABCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3098594	NM_001606.5(ABCA2):c.884A>G (p.Lys295Arg)	ABCA2 (K295R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098538	NM_001606.5(ABCA2):c.851C>G (p.Ser284Cys)	ABCA2 (S283C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098328	NM_001606.5(ABCA2):c.824C>T (p.Ala275Val)	ABCA2 (A305V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098297	NM_001606.5(ABCA2):c.785A>G (p.Gln262Arg)	ABCA2 (Q262R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098275	NM_001606.5(ABCA2):c.736G>C (p.Glu246Gln)	ABCA2 (E276Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098158	NM_001606.5(ABCA2):c.7277C>T (p.Ala2426Val)	ABCA2 (A2456V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098118	NM_001606.5(ABCA2):c.7263C>T (p.Phe2421=)	ABCA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3098050	NM_001606.5(ABCA2):c.7240G>A (p.Glu2414Lys)	ABCA2 (E2413K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098032	NM_001606.5(ABCA2):c.7232T>G (p.Leu2411Arg)	ABCA2 (L2441R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097861	NM_001606.5(ABCA2):c.7153G>C (p.Gly2385Arg)	ABCA2 (G2384R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097831	NM_001606.5(ABCA2):c.7135G>A (p.Ala2379Thr)	ABCA2 (A2378T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097786	NM_001606.5(ABCA2):c.7067A>G (p.Asn2356Ser)	ABCA2 (N2356S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097727	NM_001606.5(ABCA2):c.6943A>G (p.Thr2315Ala)	ABCA2 (T2314A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097621	NM_001606.5(ABCA2):c.6868A>G (p.Ser2290Gly)	ABCA2 (S2320G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097369	NM_001606.5(ABCA2):c.6271G>A (p.Gly2091Ser)	ABCA2 (G2121S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097336	NM_001606.5(ABCA2):c.6200G>C (p.Arg2067Pro)	ABCA2 (R2066P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097196	NM_001606.5(ABCA2):c.6059G>A (p.Arg2020His)	ABCA2, LOC126860796 (R2020H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097173	NM_001606.5(ABCA2):c.6058C>T (p.Arg2020Cys)	ABCA2, LOC126860796 (R2019C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097144	NM_001606.5(ABCA2):c.5972G>A (p.Arg1991His)	ABCA2, LOC126860796 (R1991H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096981	NM_001606.5(ABCA2):c.5524G>A (p.Val1842Met)	ABCA2 (V1841M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096895	NM_001606.5(ABCA2):c.5107G>A (p.Val1703Ile)	ABCA2 (V1702I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096805	NM_001606.5(ABCA2):c.4952C>T (p.Ser1651Phe)	ABCA2 (S1681F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096680	NM_001606.5(ABCA2):c.4877C>T (p.Thr1626Met)	ABCA2 (T1656M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096656	NM_001606.5(ABCA2):c.4876A>T (p.Thr1626Ser)	ABCA2 (T1625S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096468	NM_001606.5(ABCA2):c.4691C>T (p.Ser1564Leu)	ABCA2 (S1564L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096301	NM_001606.5(ABCA2):c.4505G>A (p.Arg1502His)	ABCA2 (R1501H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096249	NM_001606.5(ABCA2):c.4408T>G (p.Cys1470Gly)	ABCA2 (C1500G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096221	NM_001606.5(ABCA2):c.4355G>A (p.Arg1452His)	ABCA2 (R1452H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096191	NM_001606.5(ABCA2):c.4301G>T (p.Trp1434Leu)	ABCA2 (W1433L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096164	NM_001606.5(ABCA2):c.4286A>G (p.Lys1429Arg)	ABCA2 (K1429R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096129	NM_001606.5(ABCA2):c.4283G>A (p.Arg1428His)	ABCA2 (R1427H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096066	NM_001606.5(ABCA2):c.4196C>T (p.Pro1399Leu)	ABCA2 (P1429L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096002	NM_001606.5(ABCA2):c.4181A>G (p.Tyr1394Cys)	ABCA2 (Y1393C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095971	NM_001606.5(ABCA2):c.4177G>A (p.Val1393Ile)	ABCA2 (V1392I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095924	NM_001606.5(ABCA2):c.4156G>A (p.Glu1386Lys)	ABCA2 (E1385K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095763	NM_001606.5(ABCA2):c.4048C>A (p.Pro1350Thr)	ABCA2 (P1350T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095667	NM_001606.5(ABCA2):c.3767A>T (p.Gln1256Leu)	ABCA2 (Q1255L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095660	NM_001606.5(ABCA2):c.3727C>T (p.Arg1243Trp)	ABCA2 (R1242W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095647	NM_001606.5(ABCA2):c.3689G>A (p.Gly1230Asp)	ABCA2 (G1229D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095563	NM_001606.5(ABCA2):c.3541C>A (p.His1181Asn)	ABCA2 (H1211N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095535	NM_001606.5(ABCA2):c.3470A>G (p.Tyr1157Cys)	ABCA2 (Y1187C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095437	NM_001606.5(ABCA2):c.3415G>T (p.Val1139Leu)	ABCA2 (V1138L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095344	NM_001606.5(ABCA2):c.3301C>T (p.Arg1101Cys)	ABCA2 (R1101C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095267	NM_001606.5(ABCA2):c.3145G>A (p.Ala1049Thr)	ABCA2 (A1048T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095135	NM_001606.5(ABCA2):c.2864C>T (p.Thr955Ile)	ABCA2 (T985I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094826	NM_001606.5(ABCA2):c.179C>T (p.Ala60Val)	ABCA2 (A60V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094803	NM_001606.5(ABCA2):c.172A>G (p.Thr58Ala)	ABCA2 (T57A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094714	NM_001606.5(ABCA2):c.2272T>G (p.Phe758Val)	ABCA2 (F757V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094573	NM_001606.5(ABCA2):c.1845C>G (p.Asp615Glu)	ABCA2 (D645E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094207	NM_001606.5(ABCA2):c.1187C>T (p.Pro396Leu)	ABCA2 (P395L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094102	NM_001606.5(ABCA2):c.1124C>A (p.Ala375Glu)	ABCA2 (A375E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder	GBenign
Select item 3058960	NM_001606.5(ABCA2):c.275C>G (p.Thr92Arg)	ABCA2 (T122R +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GUncertain significance
Select item 3058730	NM_001606.5(ABCA2):c.7164C>T (p.Leu2388=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3058663	NM_001606.5(ABCA2):c.6324G>A (p.Thr2108=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3058416	NM_001606.5(ABCA2):c.7176G>A (p.Arg2392=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3057482	NM_001606.5(ABCA2):c.3144C>T (p.Ser1048=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3055588	NM_001606.5(ABCA2):c.4371A>C (p.Ala1457=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	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 disorder	GLikely benign
Select item 3053840	NM_001606.5(ABCA2):c.4422C>T (p.Thr1474=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3053169	NM_001606.5(ABCA2):c.6624C>T (p.Ile2208=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3052621	NM_001606.5(ABCA2):c.3081C>T (p.Asn1027=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3051602	NM_001606.5(ABCA2):c.1266-6C>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3050564	NM_001606.5(ABCA2):c.276-7G>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3045894	NM_001606.5(ABCA2):c.5808G>A (p.Lys1936=)	ABCA2, LOC126860796	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3045144	NM_001606.5(ABCA2):c.5535+3G>A	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3045055	NM_001606.5(ABCA2):c.4785G>C (p.Ser1595=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3044326	NM_001606.5(ABCA2):c.4542C>T (p.Arg1514=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3043352	NM_001606.5(ABCA2):c.3849C>T (p.Ala1283=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3042485	NM_001606.5(ABCA2):c.5517G>A (p.Ala1839=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	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 disorder	GLikely benign
Select item 3041634	NM_001606.5(ABCA2):c.801T>G (p.Ala267=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GBenign
Select item 3041628	NM_001606.5(ABCA2):c.5126C>T (p.Ala1709Val)	ABCA2 (A1708V +2 more)	Single nucleotide variant (missense variant)	ABCA2-related disorder	GUncertain significance
Select item 3041390	NM_001606.5(ABCA2):c.4779A>C (p.Pro1593=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3040970	NM_001606.5(ABCA2):c.2532G>A (p.Thr844=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3035769	NM_001606.5(ABCA2):c.5604G>A (p.Thr1868=)	ABCA2	Single nucleotide variant (synonymous variant)	ABCA2-related disorder	GLikely benign
Select item 3035011	NM_001606.5(ABCA2):c.160+9G>A	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3034960	NM_001606.5(ABCA2):c.3318-9C>G	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	GLikely benign
Select item 3034434	NM_001606.5(ABCA2):c.163+10C>T	ABCA2	Single nucleotide variant (intron variant)	ABCA2-related disorder	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)	not provided +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

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