ClinVar for MedGen (Select 108615) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3572876	NM_173076.3(ABCA12):c.7301AAG[1] (p.Glu2435del)	ABCA12, SNHG31 (E2435del +1 more)	Microsatellite (non-coding transcript variant)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 3382496	NM_173076.3(ABCA12):c.2592+2dup	ABCA12	Duplication (splice donor variant)	Autosomal recessive congenital ichthyosis 4A +1 more	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 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 2585208	NM_173076.3(ABCA12):c.4381del (p.Arg1461fs)	ABCA12 (R1461fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GLikely pathogenic
Select item 2507035	NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter)	ABCA12 (R1642* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive congenital ichthyosis 4B	GLikely pathogenic
Select item 2506520	NM_173076.3(ABCA12):c.5046_5050del (p.Lys1682fs)	ABCA12 (K1364fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 2413184	NM_173076.3(ABCA12):c.7104+5G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 2203258	NM_173076.3(ABCA12):c.3666C>A (p.Tyr1222Ter)	ABCA12 (Y1222* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2203257	NM_173076.3(ABCA12):c.5848C>T (p.Arg1950Ter)	ABCA12 (R1632* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1701787	NM_173076.3(ABCA12):c.4415G>A (p.Arg1472His)	ABCA12 (R1154H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1693261	NM_173076.3(ABCA12):c.7344-1G>C	ABCA12, SNHG31	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 1686889	NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val)	ABCA12 (A901V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 1343754	NM_173076.3(ABCA12):c.6305A>T (p.Tyr2102Phe)	ABCA12, SNHG31 (Y1784F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1322149	NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter)	ABCA12 (W1294* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1185554	NM_173076.3(ABCA12):c.163+89T>A	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185553	NM_173076.3(ABCA12):c.164-30C>G	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185552	NM_173076.3(ABCA12):c.1657+72A>G	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185551	NM_173076.3(ABCA12):c.2864-105C>T	ABCA12	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4B +1 more	GBenign
Select item 1185451	NM_173076.3(ABCA12):c.3294+36C>T	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185450	NM_173076.3(ABCA12):c.3295-25C>T	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185449	NM_173076.3(ABCA12):c.4383-70G>T	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185371	NM_173076.3(ABCA12):c.5381+95G>T	ABCA12	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4A +2 more	GBenign
Select item 1185370	NM_173076.3(ABCA12):c.5778+29T>C	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 931786	NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys)	ABCA12, SNHG31 (Y2254C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B +2 more	GUncertain significance
Select item 930799	NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr)	ABCA12 (S141T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 899256	NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu)	ABCA12 (P1480L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A +3 more	GConflicting classifications of pathogenicity
Select item 804393	NM_173076.3(ABCA12):c.1918dup (p.Leu640fs)	ABCA12 (L322fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GLikely pathogenic
Select item 633832	NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp)	ABCA12, SNHG31 (R2426W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 633831	NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu)	ABCA12, SNHG31 (P2416L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 633830	NM_173076.3(ABCA12):c.5562G>A (p.Gln1854=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 633829	NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro)	ABCA12 (L1149P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GLikely pathogenic
Select item 633828	NM_173076.3(ABCA12):c.2683G>A (p.Asp895Asn)	ABCA12 (D895N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 633802	NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro)	ABCA12, SNHG31 (L2558P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 633801	NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln)	ABCA12, SNHG31 (R2426Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 617618	NM_173076.3(ABCA12):c.5743dup (p.Ile1915fs)	ABCA12 (I1915fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 488389	NM_173076.3(ABCA12):c.6234-1G>C	ABCA12, SNHG31	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 430629	NM_173076.3(ABCA12):c.5939+4A>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4B	GLikely pathogenic
Select item 419453	NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)	ABCA12, SNHG31 (R2482* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 388614	NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp)	ABCA12 (R44W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B +2 more	GLikely pathogenic
Select item 334259	NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)	ABCA12 (N678S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 334234	NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro)	ABCA12 (S1850P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B +3 more	GConflicting classifications of pathogenicity
Select item 334218	NM_173076.3(ABCA12):c.*26G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 4A +3 more	GBenign
Select item 265005	NM_173076.3(ABCA12):c.3889C>T (p.Arg1297Ter)	ABCA12 (R1297* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 265000	NM_173076.3(ABCA12):c.1300C>T (p.Arg434Ter)	ABCA12 (R434* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 264999	NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter)	ABCA12 (R287*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 262833	NM_173076.3(ABCA12):c.7105-17C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4A +3 more	GBenign
Select item 262831	NM_173076.3(ABCA12):c.6306C>T (p.Tyr2102=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive congenital ichthyosis 4A +4 more	GBenign
Select item 262828	NM_173076.3(ABCA12):c.4163+20T>C	ABCA12	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4A +3 more	GBenign
Select item 262827	NM_173076.3(ABCA12):c.4126T>C (p.Leu1376=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive congenital ichthyosis 4A +4 more	GBenign
Select item 262826	NM_173076.3(ABCA12):c.3726G>A (p.Pro1242=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 262825	NM_173076.3(ABCA12):c.3033A>G (p.Pro1011=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 262824	NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr)	ABCA12 (S777T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 262821	NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr)	ABCA12 (P589T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign/Likely benign
Select item 2864	NM_173076.3(ABCA12):c.(872+1_873-1)_(985+1_986-1)del (p.Ser291Argfs)	ABCA12	Deletion	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 2863	NM_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg)	ABCA12 (G1179R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 2862	NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)	ABCA12, SNHG31 (R1886* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive congenital ichthyosis 4A +3 more	GPathogenic
Select item 2861	NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)	ABCA12, SNHG31 (D2047N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B +4 more	GBenign/Likely benign
Select item 2860	NM_173076.3(ABCA12):c.5012del (p.Asn1671fs)	ABCA12 (N1353fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GPathogenic
Select item 2859	NM_173076.3(ABCA12):c.7323del (p.Val2442fs)	ABCA12, SNHG31 (V2124fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2856	NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser)	ABCA12 (G1651S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2855	NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)	ABCA12 (N1380S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A +2 more	GPathogenic/Likely pathogenic

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Items: 62