ClinVar for MedGen (Select 371355) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585491	NM_173076.3(ABCA12):c.4977+6C>T	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579658	NM_173076.3(ABCA12):c.7240-1G>T	SNHG31, ABCA12	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 4A	GLikely pathogenic
Select item 2579655	NM_173076.3(ABCA12):c.5001_5010del (p.Ser1668fs)	ABCA12 (S1350fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GLikely pathogenic
Select item 2579653	NM_173076.3(ABCA12):c.167A>G (p.Tyr56Cys)	ABCA12 (Y56C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GUncertain significance
Select item 2579651	NM_173076.3(ABCA12):c.4151A>G (p.Lys1384Arg)	ABCA12 (K1066R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GLikely pathogenic
Select item 2505565	NM_173076.3(ABCA12):c.6463G>T (p.Gly2155Cys)	SNHG31, ABCA12 (G1837C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GLikely pathogenic
Select item 2505564	NM_173076.3(ABCA12):c.5469_5472del	ABCA12	Deletion (splice acceptor variant)	Autosomal recessive congenital ichthyosis 4A	GPathogenic
Select item 2401811	NM_173076.3(ABCA12):c.3634T>A (p.Ser1212Thr)	ABCA12 (S1212T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A +1 more	GUncertain significance
Select item 1705724	NM_173076.3(ABCA12):c.94T>C (p.Trp32Arg)	ABCA12 (W32R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GUncertain significance
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 1699161	NM_173076.3(ABCA12):c.3416T>C (p.Leu1139Pro)	ABCA12 (L1139P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GUncertain significance
Select item 1526238	NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys)	ABCA12 (R1196C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A +1 more	GConflicting classifications of pathogenicity
Select item 1526223	NM_173076.3(ABCA12):c.4676G>T (p.Gly1559Val)	ABCA12 (G1241V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GUncertain significance
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)	Autosomal recessive congenital ichthyosis 4B +1 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)	Autosomal recessive congenital ichthyosis 4A +2 more	GBenign
Select item 1185450	NM_173076.3(ABCA12):c.3295-25C>T	ABCA12	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4B +2 more	GBenign
Select item 1185449	NM_173076.3(ABCA12):c.4383-70G>T	ABCA12	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4A +1 more	GBenign
Select item 1185371	NM_173076.3(ABCA12):c.5381+95G>T	ABCA12	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4A +1 more	GBenign
Select item 1185370	NM_173076.3(ABCA12):c.5778+29T>C	ABCA12	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 4A +2 more	GBenign
Select item 1180821	NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs)	ABCA12 (E568fs +1 more)	Deletion (non-coding transcript variant +1 more)	Abnormality of the skin	GLikely pathogenic
Select item 1047921	NM_173076.3(ABCA12):c.2637C>T (p.Ser879=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GUncertain significance
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 4A +1 more	GUncertain significance
Select item 899256	NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu)	ABCA12 (P1480L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 596779	NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter)	ABCA12 (W199*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive congenital ichthyosis 4A +1 more	GPathogenic/Likely pathogenic
Select item 560161	NM_173076.3(ABCA12):c.1657+1G>T	ABCA12	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 334218	NM_173076.3(ABCA12):c.*26G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
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	SNHG31, ABCA12	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 262831	NM_173076.3(ABCA12):c.6306C>T (p.Tyr2102=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 262828	NM_173076.3(ABCA12):c.4163+20T>C	ABCA12	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 262827	NM_173076.3(ABCA12):c.4126T>C (p.Leu1376=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +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)	Congenital ichthyosis of skin +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)	Autosomal recessive congenital ichthyosis 4B +4 more	GBenign/Likely benign
Select item 2862	NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter)	ABCA12, SNHG31 (R1886* +1 more)	Single nucleotide variant (nonsense +1 more)	Lamellar ichthyosis +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)	Congenital ichthyosis of skin +4 more	GBenign/Likely benign
Select item 2858	NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys)	ABCA12 (E1539K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GPathogenic
Select item 2857	NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His)	ABCA12 (R1514H +1 more)	Single nucleotide variant (missense variant +1 more)	ABCA12-related condition	GLikely pathogenic
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 +1 more	GConflicting classifications of pathogenicity
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 4B +2 more	GPathogenic/Likely pathogenic
Select item 2854	NM_173076.3(ABCA12):c.4142G>A (p.Gly1381Glu)	ABCA12 (G1381E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive congenital ichthyosis 4A	GPathogenic

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Items: 50