ClinVar for Gene (Select 26154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366816	NM_173076.3(ABCA12):c.3548A>G (p.Tyr1183Cys)	ABCA12 (Y1183C +1 more)	Single nucleotide variant (missense variant +1 more)	Lamellar ichthyosis	GPathogenic
Select item 3366802	NM_173076.3(ABCA12):c.7172G>C (p.Ser2391Thr)	ABCA12, SNHG31 (S2073T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3366691	NM_173076.3(ABCA12):c.131G>A (p.Arg44Gln)	ABCA12 (R44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3362659	NM_173076.3(ABCA12):c.743del (p.Arg248fs)	ABCA12 (R248fs)	Deletion (frameshift variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GLikely pathogenic
Select item 3348719	NM_173076.3(ABCA12):c.2613T>G (p.Phe871Leu)	ABCA12 (F553L +1 more)	Single nucleotide variant (missense variant +1 more)	ABCA12-related disorder	GUncertain significance
Select item 3343171	NM_173076.3(ABCA12):c.4367A>T (p.His1456Leu)	ABCA12 (H1138L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342751	NM_173076.3(ABCA12):c.5691-10C>G	ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3339633	NM_173076.3(ABCA12):c.7222C>T (p.Pro2408Ser)	ABCA12, SNHG31 (P2090S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339433	NM_173076.3(ABCA12):c.7680+5G>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336246	NM_173076.3(ABCA12):c.4300A>G (p.Thr1434Ala)	ABCA12 (T1116A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335975	NM_173076.3(ABCA12):c.2634C>G (p.Phe878Leu)	ABCA12 (F560L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273552	NM_173076.3(ABCA12):c.35T>G (p.Val12Gly)	ABCA12 (V12G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273466	NM_173076.3(ABCA12):c.6731T>C (p.Val2244Ala)	ABCA12, SNHG31 (V1926A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273379	NM_173076.3(ABCA12):c.2786G>A (p.Arg929His)	ABCA12 (R611H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273278	NM_173076.3(ABCA12):c.6161C>T (p.Ala2054Val)	ABCA12, SNHG31 (A1736V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273180	NM_173076.3(ABCA12):c.2243G>A (p.Arg748Lys)	ABCA12 (R430K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3273082	NM_173076.3(ABCA12):c.3191G>T (p.Ser1064Ile)	ABCA12 (S746I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272984	NM_173076.3(ABCA12):c.713A>T (p.Asn238Ile)	ABCA12 (N238I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272846	NM_173076.3(ABCA12):c.2668C>G (p.Gln890Glu)	ABCA12 (Q890E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272749	NM_173076.3(ABCA12):c.5734C>T (p.Arg1912Cys)	ABCA12 (R1594C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272655	NM_173076.3(ABCA12):c.275T>G (p.Leu92Arg)	ABCA12 (L92R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272602	NM_173076.3(ABCA12):c.4411C>G (p.His1471Asp)	ABCA12 (H1153D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272527	NM_173076.3(ABCA12):c.5863A>G (p.Lys1955Glu)	ABCA12 (K1637E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272465	NM_173076.3(ABCA12):c.3017G>A (p.Gly1006Glu)	ABCA12 (G1006E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272377	NM_173076.3(ABCA12):c.352G>A (p.Asp118Asn)	ABCA12 (D118N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3247596	NC_000002.11:g.(?_215833424)_(215839608_?)dup	ABCA12	Duplication	not provided	GLikely pathogenic
Select item 3247595	NC_000002.11:g.(?_215846891)_(215848609_?)del	ABCA12	Deletion	not provided	GPathogenic
Select item 3247594	NC_000002.11:g.(?_215593400)_(215854365_?)del	ABCA12, BARD1	Deletion	not provided	GPathogenic
Select item 3247593	NC_000002.11:g.(?_215928769)_(216002931_?)del	ABCA12	Deletion	not provided	GPathogenic
Select item 3247592	NC_000002.11:g.(?_215901657)_(215901809_?)del	ABCA12	Deletion	not provided	GPathogenic
Select item 3247179	NC_000002.11:g.(?_215632196)_(216212339_?)dup	ABCA12, ATIC +1 more	Duplication	Familial cancer of breast	GUncertain significance
Select item 3237413	NM_173076.3(ABCA12):c.3306G>A (p.Met1102Ile)	ABCA12 (M1102I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 3084598	NM_173076.3(ABCA12):c.6713G>A (p.Arg2238Gln)	ABCA12, SNHG31 (R2238Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084404	NM_173076.3(ABCA12):c.6392C>T (p.Pro2131Leu)	SNHG31, ABCA12 (P2131L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084174	NM_173076.3(ABCA12):c.5894T>C (p.Met1965Thr)	ABCA12, SNHG31 (M1965T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084143	NM_173076.3(ABCA12):c.5796A>C (p.Glu1932Asp)	ABCA12 (E1932D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083838	NM_173076.3(ABCA12):c.5275A>G (p.Thr1759Ala)	ABCA12 (T1759A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083534	NM_173076.3(ABCA12):c.4903C>G (p.Leu1635Val)	ABCA12 (L1635V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083393	NM_173076.3(ABCA12):c.4591A>T (p.Ile1531Phe)	ABCA12 (I1531F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083233	NM_173076.3(ABCA12):c.4154C>G (p.Thr1385Ser)	ABCA12 (T1067S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083136	NM_173076.3(ABCA12):c.3973G>T (p.Ala1325Ser)	ABCA12 (A1007S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083109	NM_173076.3(ABCA12):c.3918G>C (p.Glu1306Asp)	ABCA12 (E1306D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082842	NM_173076.3(ABCA12):c.3488A>T (p.Tyr1163Phe)	ABCA12 (Y1163F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082626	NM_173076.3(ABCA12):c.3098T>C (p.Ile1033Thr)	ABCA12 (I1033T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082593	NM_173076.3(ABCA12):c.3026A>T (p.Asn1009Ile)	ABCA12 (N691I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082529	NM_173076.3(ABCA12):c.2938G>A (p.Val980Ile)	ABCA12 (V980I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082458	NM_173076.3(ABCA12):c.2906G>C (p.Gly969Ala)	ABCA12 (G969A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082287	NM_173076.3(ABCA12):c.256C>T (p.Pro86Ser)	ABCA12 (P86S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082243	NM_173076.3(ABCA12):c.2537C>T (p.Ser846Leu)	ABCA12 (S846L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082186	NM_173076.3(ABCA12):c.2377G>A (p.Ala793Thr)	ABCA12 (A475T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082109	NM_173076.3(ABCA12):c.2267A>T (p.Asp756Val)	ABCA12 (D756V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3081746	NM_173076.3(ABCA12):c.1498G>T (p.Asp500Tyr)	ABCA12 (D182Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3081715	NM_173076.3(ABCA12):c.1493T>G (p.Val498Gly)	ABCA12 (V498G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3081658	NM_173076.3(ABCA12):c.1442C>T (p.Thr481Ile)	ABCA12 (T163I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3081588	NM_173076.3(ABCA12):c.1402G>C (p.Glu468Gln)	ABCA12 (E468Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3081523	NM_173076.3(ABCA12):c.1177C>G (p.Pro393Ala)	ABCA12 (P75A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062525	GRCh37/hg19 2q35(chr2:215384530-216131507)x3	ABCA12, BARD1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3060383	NM_173076.3(ABCA12):c.1842A>G (p.Leu614=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 3058322	NM_173076.3(ABCA12):c.1179A>G (p.Pro393=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 3047391	NM_173076.3(ABCA12):c.3294+4T>C	ABCA12	Single nucleotide variant (intron variant)	ABCA12-related disorder	GLikely benign
Select item 3044228	NM_173076.3(ABCA12):c.7134C>T (p.His2378=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 3041642	NM_173076.3(ABCA12):c.4579+4T>G	ABCA12	Single nucleotide variant (intron variant)	ABCA12-related disorder	GLikely benign
Select item 3030573	NM_173076.3(ABCA12):c.7404A>G (p.Gln2468=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 3029220	NM_173076.3(ABCA12):c.2445C>T (p.Asn815=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 3023901	NM_173076.3(ABCA12):c.4740+19A>G	ABCA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023900	NM_173076.3(ABCA12):c.7176T>C (p.Tyr2392=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023835	NM_173076.3(ABCA12):c.642C>G (p.Asn214Lys)	ABCA12 (N214K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3023711	NM_173076.3(ABCA12):c.6853-8C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023602	NM_173076.3(ABCA12):c.5690+14T>C	ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023316	NM_173076.3(ABCA12):c.2683+15A>G	ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023189	NM_173076.3(ABCA12):c.5885-14G>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023011	NM_173076.3(ABCA12):c.1419C>T (p.Leu473=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023010	NM_173076.3(ABCA12):c.1658-16A>G	ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022342	NM_173076.3(ABCA12):c.4392A>G (p.Lys1464=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022239	NM_173076.3(ABCA12):c.6394-10C>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021455	NM_173076.3(ABCA12):c.5739T>C (p.Phe1913=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021261	NM_173076.3(ABCA12):c.7543-17T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021226	NM_173076.3(ABCA12):c.3918G>A (p.Glu1306=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021190	NM_173076.3(ABCA12):c.1600C>G (p.Pro534Ala)	ABCA12 (P534A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3020766	NM_173076.3(ABCA12):c.5382-2A>G	ABCA12	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3020106	NM_173076.3(ABCA12):c.7240-23_7240-20dup	ABCA12, SNHG31	Duplication (intron variant)	not provided	GBenign
Select item 3019198	NM_173076.3(ABCA12):c.3977-8C>A	ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019183	NM_173076.3(ABCA12):c.7065T>C (p.Tyr2355=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019077	NM_173076.3(ABCA12):c.7248G>A (p.Pro2416=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017794	NM_173076.3(ABCA12):c.1122_1125dup (p.Pro376fs)	ABCA12 (P58fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3017006	NM_173076.3(ABCA12):c.2473-9G>A	ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016715	NM_173076.3(ABCA12):c.4579+8T>C	ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016361	NM_173076.3(ABCA12):c.294T>C (p.Ile98=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016147	NM_173076.3(ABCA12):c.4922G>A (p.Gly1641Asp)	ABCA12 (G1323D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3016054	NM_173076.3(ABCA12):c.7443A>C (p.Gly2481=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015879	NM_173076.3(ABCA12):c.5427C>T (p.Asp1809=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015865	NM_173076.3(ABCA12):c.6390T>C (p.Asp2130=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014961	NM_173076.3(ABCA12):c.4047T>C (p.His1349=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013194	NM_173076.3(ABCA12):c.6534T>C (p.Asn2178=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013181	NM_173076.3(ABCA12):c.311A>C (p.Lys104Thr)	ABCA12 (K104T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3013118	NM_173076.3(ABCA12):c.4968C>T (p.Thr1656=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012906	NM_173076.3(ABCA12):c.6471T>A (p.Ile2157=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012874	NM_173076.3(ABCA12):c.5128+19dup	ABCA12	Duplication (intron variant)	not provided	GLikely benign
Select item 3012767	NM_173076.3(ABCA12):c.5940-6C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012669	NM_173076.3(ABCA12):c.5394G>A (p.Pro1798=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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