ClinVar for MedGen (Select 43813) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 899308	NM_173076.3(ABCA12):c.3806G>C (p.Trp1269Ser)	ABCA12 (W951S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 899307	NM_173076.3(ABCA12):c.3829+11G>A	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 899306	NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val)	ABCA12 (M1317V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 899256	NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu)	ABCA12 (P1480L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +3 more	GConflicting classifications of pathogenicity
Select item 899255	NM_173076.3(ABCA12):c.5480A>G (p.Asn1827Ser)	ABCA12 (N1509S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 899254	NM_173076.3(ABCA12):c.5563-6T>C	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 899203	NM_173076.3(ABCA12):c.6962+5G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 899202	NM_173076.3(ABCA12):c.7102G>A (p.Glu2368Lys)	ABCA12, SNHG31 (E2050K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GUncertain significance
Select item 899201	NM_173076.3(ABCA12):c.7265C>T (p.Pro2422Leu)	ABCA12, SNHG31 (P2104L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 899200	NM_173076.3(ABCA12):c.7389G>A (p.Val2463=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 899134	NM_173076.3(ABCA12):c.*908G>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 898337	NM_173076.3(ABCA12):c.-218A>C	ABCA12	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 898336	NM_173076.3(ABCA12):c.152C>A (p.Ala51Glu)	ABCA12 (A51E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898335	NM_173076.3(ABCA12):c.281G>A (p.Arg94His)	ABCA12 (R94H)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 898334	NM_173076.3(ABCA12):c.426T>C (p.Ser142=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898333	NM_173076.3(ABCA12):c.510G>A (p.Leu170=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 898276	NM_173076.3(ABCA12):c.1514A>T (p.Asp505Val)	ABCA12 (D505V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898275	NM_173076.3(ABCA12):c.1565A>C (p.Gln522Pro)	ABCA12 (Q204P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 898205	NM_173076.3(ABCA12):c.4164T>G (p.Ile1388Met)	ABCA12 (I1070M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898204	NM_173076.3(ABCA12):c.4243A>C (p.Thr1415Pro)	ABCA12 (T1097P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 898203	NM_173076.3(ABCA12):c.4250G>A (p.Arg1417Gln)	ABCA12 (R1417Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 898151	NM_173076.3(ABCA12):c.5690+4A>C	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin	GUncertain significance
Select item 898150	NM_173076.3(ABCA12):c.5690+13G>A	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 898149	NM_173076.3(ABCA12):c.5849G>A (p.Arg1950Gln)	ABCA12 (R1950Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 898148	NM_173076.3(ABCA12):c.6204C>T (p.Gly2068=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 898077	NM_173076.3(ABCA12):c.*275C>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 897171	NM_173076.3(ABCA12):c.693+8T>C	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897109	NM_173076.3(ABCA12):c.1769A>C (p.Asp590Ala)	ABCA12 (D272A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897108	NM_173076.3(ABCA12):c.1783-15T>C	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896643	NM_173076.3(ABCA12):c.2204C>T (p.Thr735Ile)	ABCA12 (T417I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896642	NM_173076.3(ABCA12):c.2304T>C (p.Ala768=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896641	NM_173076.3(ABCA12):c.2333-14C>A	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896576	NM_173076.3(ABCA12):c.4351A>T (p.Thr1451Ser)	ABCA12 (T1133S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 896575	NM_173076.3(ABCA12):c.4660G>A (p.Gly1554Arg)	ABCA12 (G1554R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896574	NM_173076.3(ABCA12):c.4907G>A (p.Arg1636Gln)	ABCA12 (R1636Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896530	NM_173076.3(ABCA12):c.6240A>C (p.Ala2080=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896529	NM_173076.3(ABCA12):c.6270G>T (p.Gly2090=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896528	NM_173076.3(ABCA12):c.6463G>A (p.Gly2155Ser)	ABCA12, SNHG31 (G2155S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896457	NM_173076.3(ABCA12):c.*344T>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896456	NM_173076.3(ABCA12):c.*365G>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896455	NM_173076.3(ABCA12):c.*378G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896454	NM_173076.3(ABCA12):c.*465G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895277	NM_173076.3(ABCA12):c.1287+14G>T	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 895276	NM_173076.3(ABCA12):c.1411C>T (p.Leu471=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895223	NM_173076.3(ABCA12):c.2384C>T (p.Pro795Leu)	ABCA12 (P477L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895222	NM_173076.3(ABCA12):c.3294+14C>G	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895155	NM_173076.3(ABCA12):c.4942G>A (p.Gly1648Arg)	ABCA12 (G1648R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895154	NM_173076.3(ABCA12):c.5020A>G (p.Met1674Val)	ABCA12 (M1356V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895153	NM_173076.3(ABCA12):c.5086G>A (p.Asp1696Asn)	ABCA12 (D1378N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 895152	NM_173076.3(ABCA12):c.5129-15C>T	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895151	NM_173076.3(ABCA12):c.5381C>T (p.Ala1794Val)	ABCA12 (A1476V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895087	NM_173076.3(ABCA12):c.6484C>A (p.Gln2162Lys)	SNHG31, ABCA12 (Q1844K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895086	NM_173076.3(ABCA12):c.6611G>A (p.Arg2204Gln)	ABCA12, SNHG31 (R2204Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 895085	NM_173076.3(ABCA12):c.6621C>T (p.Ile2207=)	SNHG31, ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895084	NM_173076.3(ABCA12):c.6668A>G (p.Asn2223Ser)	ABCA12, SNHG31 (N2223S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895083	NM_173076.3(ABCA12):c.6704A>C (p.Glu2235Ala)	ABCA12, SNHG31 (E1917A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895016	NM_173076.3(ABCA12):c.*574C>T	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895015	NM_173076.3(ABCA12):c.*713T>G	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895014	NM_173076.3(ABCA12):c.*724G>A	SNHG31, ABCA12	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895013	NM_173076.3(ABCA12):c.*732G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 791526	NM_173076.3(ABCA12):c.3930C>T (p.Gly1310=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 787163	NM_173076.3(ABCA12):c.5691-3T>C	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 775183	NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val)	ABCA12, SNHG31 (I2307V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 775062	NM_173076.3(ABCA12):c.6501C>T (p.Asp2167=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GBenign/Likely benign
Select item 755494	NM_173076.3(ABCA12):c.7596C>T (p.Val2532=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 746478	NM_173076.3(ABCA12):c.6695A>G (p.Asp2232Gly)	ABCA12, SNHG31 (D2232G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 721934	NM_173076.3(ABCA12):c.1062-8T>A	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +1 more	GBenign/Likely benign
Select item 719072	NM_173076.3(ABCA12):c.974C>T (p.Ser325Phe)	ABCA12 (S325F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 715870	NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile)	ABCA12, SNHG31 (T2544I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 713548	NM_173076.3(ABCA12):c.6208G>A (p.Val2070Ile)	SNHG31, ABCA12 (V2070I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 709630	NM_173076.3(ABCA12):c.549A>G (p.Glu183=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GBenign/Likely benign
Select item 633815	NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys)	SDR9C7 (E119K)	Single nucleotide variant (missense variant)	Congenital ichthyosis of skin	GLikely pathogenic
Select item 633814	NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg)	SDR9C7 (G38R)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 13 +2 more	GConflicting classifications of pathogenicity
Select item 632345	NM_173076.3(ABCA12):c.693+1G>A	ABCA12	Single nucleotide variant (splice donor variant)	Congenital ichthyosis of skin	GUncertain significance
Select item 632344	NM_173076.3(ABCA12):c.1033A>C (p.Thr345Pro)	ABCA12 (T345P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632343	NM_173076.3(ABCA12):c.6726_6732del (p.Glu2245fs)	ABCA12, SNHG31 (E1927fs +1 more)	Deletion (frameshift variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 624177	NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro)	ABCA12 (S408P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GBenign/Likely benign
Select item 624176	NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu)	ABCA12 (M1161L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GBenign/Likely benign
Select item 488591	NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter)	SDR9C7 (R220*)	Single nucleotide variant (nonsense)	Congenital ichthyosis of skin +2 more	GPathogenic
Select item 444550	NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu)	ABCA12 (V381L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334279	NM_173076.3(ABCA12):c.-8T>C	ABCA12	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334278	NM_173076.3(ABCA12):c.552A>G (p.Leu184=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GBenign
Select item 334277	NM_173076.3(ABCA12):c.597G>C (p.Trp199Cys)	ABCA12 (W199C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 334276	NM_173076.3(ABCA12):c.709A>C (p.Asn237His)	ABCA12 (N237H)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GBenign
Select item 334275	NM_173076.3(ABCA12):c.833C>T (p.Ser278Leu)	ABCA12 (S278L)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334274	NM_173076.3(ABCA12):c.880C>G (p.Leu294Val)	ABCA12 (L294V)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 334273	NM_173076.3(ABCA12):c.1132T>C (p.Leu378=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 334272	NM_173076.3(ABCA12):c.1166C>T (p.Ala389Val)	ABCA12 (A389V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334271	NM_173076.3(ABCA12):c.1174T>C (p.Ser392Pro)	ABCA12 (S392P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334270	NM_173076.3(ABCA12):c.1186C>G (p.Leu396Val)	ABCA12 (L396V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334269	NM_173076.3(ABCA12):c.1287+9T>C	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 334268	NM_173076.3(ABCA12):c.1296A>G (p.Gln432=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334267	NM_173076.3(ABCA12):c.1420C>T (p.Leu474Phe)	ABCA12 (L474F +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334266	NM_173076.3(ABCA12):c.1427C>T (p.Ala476Val)	ABCA12 (A476V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 334265	NM_173076.3(ABCA12):c.1428G>A (p.Ala476=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 334264	NM_173076.3(ABCA12):c.1462C>T (p.Leu488=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334263	NM_173076.3(ABCA12):c.1515T>G (p.Asp505Glu)	ABCA12 (D505E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334262	NM_173076.3(ABCA12):c.1625T>C (p.Val542Ala)	ABCA12 (V542A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 334261	NM_173076.3(ABCA12):c.1743C>G (p.Asp581Glu)	ABCA12 (D581E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334260	NM_173076.3(ABCA12):c.1923G>C (p.Leu641=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign

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