ClinVar for MedGen (Select 108615) - ClinVar

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Items: 51

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25070351.	NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter) GRCh37: Chr2:215831578 GRCh38: Chr2:214966854	ABCA12	R1642, R1960	Autosomal recessive congenital ichthyosis 4B	Likely pathogenic	criteria provided, single submitter
Select item 25065202.	NM_173076.3(ABCA12):c.5046_5050del (p.Lys1682fs) GRCh37: Chr2:215843118-215843122 GRCh38: Chr2:214978394-214978398	ABCA12	K1364fs, K1682fs	Autosomal recessive congenital ichthyosis 4B	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 24131843.	NM_173076.3(ABCA12):c.7104+5G>A GRCh37: Chr2:215813315 GRCh38: Chr2:214948591	ABCA12, SNHG31		Autosomal recessive congenital ichthyosis 4B	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 17017874.	NM_173076.3(ABCA12):c.4415G>A (p.Arg1472His) GRCh37: Chr2:215847075 GRCh38: Chr2:214982351	ABCA12	R1154H, R1472H	Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	not provided	no assertion provided
Select item 16932615.	NM_173076.3(ABCA12):c.7344-1G>C GRCh37: Chr2:215807742 GRCh38: Chr2:214943018	ABCA12, SNHG31		Autosomal recessive congenital ichthyosis 4B	Pathogenic	no assertion criteria provided
Select item 16868896.	NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val) GRCh37: Chr2:215854314 GRCh38: Chr2:214989590	ABCA12	A901V	Autosomal recessive congenital ichthyosis 4B	Pathogenic (Apr 21, 2022)	no assertion criteria provided
Select item 13437547.	NM_173076.3(ABCA12):c.6305A>T (p.Tyr2102Phe) GRCh37: Chr2:215820014 GRCh38: Chr2:214955290	ABCA12, SNHG31	Y1784F, Y2102F	not specified	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 13221498.	NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) GRCh37: Chr2:215852465 GRCh38: Chr2:214987741	ABCA12	W1294, W976	Autosomal recessive congenital ichthyosis 4B, not provided	Pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11855549.	NM_173076.3(ABCA12):c.163+89T>A GRCh37: Chr2:215976231 GRCh38: Chr2:215111508	ABCA12		Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118555310.	NM_173076.3(ABCA12):c.164-30C>G GRCh37: Chr2:215928972 GRCh38: Chr2:215064249	ABCA12		Autosomal recessive congenital ichthyosis 4B, not provided, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118555211.	NM_173076.3(ABCA12):c.1657+72A>G GRCh37: Chr2:215883988 GRCh38: Chr2:215019264	ABCA12		Autosomal recessive congenital ichthyosis 4B, not provided, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118555112.	NM_173076.3(ABCA12):c.2864-105C>T GRCh37: Chr2:215865849 GRCh38: Chr2:215001125	ABCA12		Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118545113.	NM_173076.3(ABCA12):c.3294+36C>T GRCh37: Chr2:215862383 GRCh38: Chr2:214997659	ABCA12		not provided, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118545014.	NM_173076.3(ABCA12):c.3295-25C>T GRCh37: Chr2:215855780 GRCh38: Chr2:214991056	ABCA12		not provided, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118544915.	NM_173076.3(ABCA12):c.4383-70G>T GRCh37: Chr2:215847177 GRCh38: Chr2:214982453	ABCA12		Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118537116.	NM_173076.3(ABCA12):c.5381+95G>T GRCh37: Chr2:215840414 GRCh38: Chr2:214975690	ABCA12		Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118537017.	NM_173076.3(ABCA12):c.5778+29T>C GRCh37: Chr2:215833415 GRCh38: Chr2:214968691	ABCA12		Autosomal recessive congenital ichthyosis 4B, not provided, Autosomal recessive congenital ichthyosis 4A	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93178618.	NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys) GRCh37: Chr2:215797431 GRCh38: Chr2:214932707	ABCA12, SNHG31	Y2254C, Y2572C	Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93079919.	NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr) GRCh37: Chr2:215884432 GRCh38: Chr2:215019708	ABCA12	S141T, S459T	not provided, Autosomal recessive congenital ichthyosis 4B	Benign/Likely benign (Dec 7, 2019)	criteria provided, multiple submitters, no conflicts
Select item 89925620.	NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu) GRCh37: Chr2:215839577 GRCh38: Chr2:214974853	ABCA12	P1480L, P1798L	Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B	Uncertain significance (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80439321.	NM_173076.3(ABCA12):c.1918dup (p.Leu640fs) GRCh37: Chr2:215880251-215880252 GRCh38: Chr2:215015527-215015528	ABCA12	L322fs, L640fs	Autosomal recessive congenital ichthyosis 4B	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 63383222.	NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) GRCh37: Chr2:215809792 GRCh38: Chr2:214945068	ABCA12, SNHG31	R2426W, R2108W	Autosomal recessive congenital ichthyosis 4B	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63383123.	NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) GRCh37: Chr2:215809821 GRCh38: Chr2:214945097	SNHG31, ABCA12	P2416L, P2098L	Autosomal recessive congenital ichthyosis 4B	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63383024.	NM_173076.3(ABCA12):c.5562G>A (p.Gln1854=) GRCh37: Chr2:215838673 GRCh38: Chr2:214973949	ABCA12		Autosomal recessive congenital ichthyosis 4B	Uncertain significance (Jun 8, 2018)	criteria provided, single submitter
Select item 63382925.	NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro) GRCh37: Chr2:215855604 GRCh38: Chr2:214990880	ABCA12	L1149P, L831P	Autosomal recessive congenital ichthyosis 4B	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63382826.	NM_173076.3(ABCA12):c.2683G>A (p.Asp895Asn) GRCh37: Chr2:215868933 GRCh38: Chr2:215004209	ABCA12	D895N, D577N	Autosomal recessive congenital ichthyosis 4B	Uncertain significance (Jun 8, 2018)	criteria provided, single submitter
Select item 63380227.	NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro) GRCh37: Chr2:215798809 GRCh38: Chr2:214934085	ABCA12, SNHG31	L2558P, L2240P	Autosomal recessive congenital ichthyosis 4B	Uncertain significance (Jun 8, 2018)	criteria provided, single submitter
Select item 63380128.	NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) GRCh37: Chr2:215809791 GRCh38: Chr2:214945067	ABCA12, SNHG31	R2426Q, R2108Q	Autosomal recessive congenital ichthyosis 4B	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 48838929.	NM_173076.3(ABCA12):c.6234-1G>C GRCh37: Chr2:215820086 GRCh38: Chr2:214955362	ABCA12, SNHG31		Autosomal recessive congenital ichthyosis 4B	Pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43062930.	NM_173076.3(ABCA12):c.5939+4A>G GRCh37: Chr2:215823744 GRCh38: Chr2:214959020	ABCA12, SNHG31		Autosomal recessive congenital ichthyosis 4B	Likely pathogenic (Apr 11, 2017)	no assertion criteria provided
Select item 41945331.	NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter) GRCh37: Chr2:215802332 GRCh38: Chr2:214937608	ABCA12, SNHG31	R2482, R2164	Lamellar ichthyosis, not provided, Autosomal recessive congenital ichthyosis 4B	Pathogenic (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38861432.	NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp) GRCh37: Chr2:215976353 GRCh38: Chr2:215111630	ABCA12	R44W	Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, not provided	Likely pathogenic (Aug 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33425933.	NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) GRCh37: Chr2:215876783 GRCh38: Chr2:215012059	ABCA12	N678S, N360S	not specified, Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, not provided	Conflicting interpretations of pathogenicity (Feb 17, 2023)	criteria provided, conflicting interpretations
Select item 33423434.	NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) GRCh37: Chr2:215838687 GRCh38: Chr2:214973963	ABCA12	S1850P, S1532P	Autosomal recessive congenital ichthyosis 4B, Congenital ichthyosis of skin	Uncertain significance (Aug 27, 2019)	criteria provided, multiple submitters, no conflicts
Select item 33421835.	NM_173076.3(ABCA12):c.*26G>A GRCh37: Chr2:215797332 GRCh38: Chr2:214932608	ABCA12, SNHG31		not provided, Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26499936.	NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) GRCh37: Chr2:215910574 GRCh38: Chr2:215045850	ABCA12	R287*	not provided	Pathogenic (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26283337.	NM_173076.3(ABCA12):c.7105-17C>T GRCh37: Chr2:215812297 GRCh38: Chr2:214947573	ABCA12, SNHG31		Autosomal recessive congenital ichthyosis 4A, not provided, not specified, Autosomal recessive congenital ichthyosis 4B	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26283138.	NM_173076.3(ABCA12):c.6306C>T (p.Tyr2102=) GRCh37: Chr2:215820013 GRCh38: Chr2:214955289	ABCA12, SNHG31		not specified, Autosomal recessive congenital ichthyosis 4B, Congenital ichthyosis of skin, not provided, Autosomal recessive congenital ichthyosis 4A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26282839.	NM_173076.3(ABCA12):c.4163+20T>C GRCh37: Chr2:215851246 GRCh38: Chr2:214986522	ABCA12		not provided, not specified, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26282740.	NM_173076.3(ABCA12):c.4126T>C (p.Leu1376=) GRCh37: Chr2:215851303 GRCh38: Chr2:214986579	ABCA12		not provided, not specified, Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26282641.	NM_173076.3(ABCA12):c.3726G>A (p.Pro1242=) GRCh37: Chr2:215854156 GRCh38: Chr2:214989432	ABCA12		Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, not specified, Autosomal recessive congenital ichthyosis 4B, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26282542.	NM_173076.3(ABCA12):c.3033A>G (p.Pro1011=) GRCh37: Chr2:215865575 GRCh38: Chr2:215000851	ABCA12		not provided, not specified, Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26282443.	NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) GRCh37: Chr2:215876166 GRCh38: Chr2:215011442	ABCA12	S777T, S459T	Congenital ichthyosis of skin, not specified, not provided, Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26282144.	NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr) GRCh37: Chr2:215882749 GRCh38: Chr2:215018025	ABCA12	P589T, P271T	Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, not specified, not provided, Congenital ichthyosis of skin	Benign/Likely benign (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 286445.	NM_173076.3(ABCA12):c.(872+1_873-1)_(985+1_986-1)del (p.Ser291Argfs) GRCh37: Chr2:215896621-215910560	ABCA12		Autosomal recessive congenital ichthyosis 4B	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 286346.	NM_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg) GRCh37: Chr2:215855515 GRCh38: Chr2:214990791	ABCA12	G1179R, G861R	Autosomal recessive congenital ichthyosis 4B	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 286247.	NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter) GRCh37: Chr2:215818615 GRCh38: Chr2:214953891	ABCA12, SNHG31	R1886, R2204	Lamellar ichthyosis, not provided, Autosomal recessive congenital ichthyosis 4A	Pathogenic (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 286148.	NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) GRCh37: Chr2:215813331 GRCh38: Chr2:214948607	ABCA12, SNHG31	D2047N, D2365N	Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B, not specified, not provided, Autosomal recessive congenital ichthyosis 4B	Benign/Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 286049.	NM_173076.3(ABCA12):c.5012del (p.Asn1671fs) GRCh37: Chr2:215843156 GRCh38: Chr2:214978432	ABCA12	N1353fs, N1671fs	Autosomal recessive congenital ichthyosis 4B	Pathogenic (May 1, 2005)	no assertion criteria provided
Select item 285950.	NM_173076.3(ABCA12):c.7323del (p.Val2442fs) GRCh37: Chr2:215809745 GRCh38: Chr2:214945021	ABCA12, SNHG31	V2124fs, V2442fs	not provided	Pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 285551.	NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) GRCh37: Chr2:215851290 GRCh38: Chr2:214986566	ABCA12	N1380S, N1062S	Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A, not provided, Autosomal recessive congenital ichthyosis 4A	Pathogenic/Likely pathogenic (Apr 9, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 51