ClinVar for MedGen (Select 854762) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25064991.	NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp) GRCh37: Chr17:7980348 GRCh38: Chr17:8077030	ALOX12B	A412D	Autosomal recessive congenital ichthyosis 2	Uncertain significance (Jun 19, 2023)	criteria provided, single submitter
Select item 15260472.	NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs) GRCh37: Chr17:7978941-7978942 GRCh38: Chr17:8075623-8075624	ALOX12B	K542fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 12996503.	NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe) GRCh37: Chr17:7983209 GRCh38: Chr17:8079891	ALOX12B	L269F	Autosomal recessive congenital ichthyosis 2	Likely pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 12854824.	NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) GRCh37: Chr17:7980439 GRCh38: Chr17:8077121	ALOX12B	K382E	Autosomal recessive congenital ichthyosis 2	Uncertain significance (Sep 4, 2020)	criteria provided, single submitter
Select item 11889705.	NM_001139.3(ALOX12B):c.147+59_147+60del GRCh37: Chr17:7990554-7990555 GRCh38: Chr17:8087236-8087237	ALOX12B		not provided, Autosomal recessive congenital ichthyosis 2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11889696.	NM_001139.3(ALOX12B):c.1532+30T>C GRCh37: Chr17:7979463 GRCh38: Chr17:8076145	ALOX12B		Autosomal recessive congenital ichthyosis 2, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11889687.	NM_001139.3(ALOX12B):c.1655-30T>C GRCh37: Chr17:7977105 GRCh38: Chr17:8073787	ALOX12B		not provided, Autosomal recessive congenital ichthyosis 2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10291478.	NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) GRCh37: Chr17:7979529 GRCh38: Chr17:8076211	ALOX12B	R499H	not provided, Autosomal recessive congenital ichthyosis 2	Conflicting interpretations of pathogenicity (Dec 3, 2021)	criteria provided, conflicting interpretations
Select item 10291469.	NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg) GRCh37: Chr17:7980457 GRCh38: Chr17:8077139	ALOX12B	W376R	Autosomal recessive congenital ichthyosis 2	Uncertain significance (Oct 4, 2019)	criteria provided, single submitter
Select item 99577310.	NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp) GRCh37: Chr17:7990714 GRCh38: Chr17:8087396	ALOX12B	S16W	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99577211.	NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs) GRCh37: Chr17:7982843-7982844 GRCh38: Chr17:8079525-8079526	ALOX12B	A316fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99577112.	NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro) GRCh37: Chr17:7990694 GRCh38: Chr17:8087376	ALOX12B	S23P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99577013.	NM_001139.3(ALOX12B):c.771_772del (p.His257fs) GRCh37: Chr17:7983242-7983243 GRCh38: Chr17:8079924-8079925	ALOX12B	H257fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576914.	NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu) GRCh37: Chr17:7990714 GRCh38: Chr17:8087396	ALOX12B	S16L	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576815.	NM_001139.3(ALOX12B):c.769C>G (p.His257Asp) GRCh37: Chr17:7983245 GRCh38: Chr17:8079927	ALOX12B	H257D	not provided	Uncertain significance (Jul 29, 2021)	criteria provided, single submitter
Select item 99576716.	NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs) GRCh37: Chr17:7983993-7983994 GRCh38: Chr17:8080675-8080676	ALOX12B	F211fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576617.	NM_001139.3(ALOX12B):c.527+1G>A GRCh37: Chr17:7984201 GRCh38: Chr17:8080883	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576518.	NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs) GRCh37: Chr17:7984441-7984442 GRCh38: Chr17:8081123-8081124	ALOX12B	A139fs	Lamellar ichthyosis	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 99576419.	NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe) GRCh37: Chr17:7983200 GRCh38: Chr17:8079882	ALOX12B	V272F	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576320.	NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro) GRCh37: Chr17:7983121 GRCh38: Chr17:8079803	ALOX12B	L298P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576221.	NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg) GRCh37: Chr17:7983221 GRCh38: Chr17:8079903	ALOX12B	G265R	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576122.	NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr) GRCh37: Chr17:7990703 GRCh38: Chr17:8087385	ALOX12B	D20Y	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99576023.	NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del) GRCh37: Chr17:7983223-7983225 GRCh38: Chr17:8079905-8079907	ALOX12B	F264del	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575924.	NM_001139.3(ALOX12B):c.845delinsAA (p.Arg282fs) GRCh37: Chr17:7983169 GRCh38: Chr17:8079851	ALOX12B	R282fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575825.	NM_001139.3(ALOX12B):c.208_211dup (p.Lys71fs) GRCh37: Chr17:7989474-7989475 GRCh38: Chr17:8086156-8086157	ALOX12B	K71fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575726.	NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile) GRCh37: Chr17:7976521 GRCh38: Chr17:8073203	ALOX12B	T624I	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575627.	NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile) GRCh37: Chr17:7976595 GRCh38: Chr17:8073277	ALOX12B	M599I	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575528.	NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys) GRCh37: Chr17:7976135 GRCh38: Chr17:8072817	ALOX12B	Y687C	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575429.	NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter) GRCh37: Chr17:7976154 GRCh38: Chr17:8072836	ALOX12B	K681*	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575330.	NM_001139.3(ALOX12B):c.1977del (p.Arg660fs) GRCh37: Chr17:7976218 GRCh38: Chr17:8072900	ALOX12B	R660fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575231.	NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg) GRCh37: Chr17:7976259 GRCh38: Chr17:8072941	ALOX12B	G646R	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575132.	NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile) GRCh37: Chr17:7976563 GRCh38: Chr17:8073245	ALOX12B	T610I	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99575033.	NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu) GRCh37: Chr17:7989387 GRCh38: Chr17:8086069	ALOX12B	P100L	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574934.	NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys) GRCh37: Chr17:7978973 GRCh38: Chr17:8075655	ALOX12B	E532K	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574835.	NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys) GRCh37: Chr17:7979530 GRCh38: Chr17:8076212	ALOX12B	R499C	not provided	Uncertain significance (Feb 4, 2019)	criteria provided, single submitter
Select item 99574736.	NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp) GRCh37: Chr17:7979640 GRCh38: Chr17:8076322	ALOX12B	G462D	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574637.	NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) GRCh37: Chr17:7978958 GRCh38: Chr17:8075640	ALOX12B	V537M	not provided, Autosomal recessive congenital ichthyosis 2	Conflicting interpretations of pathogenicity (Jan 9, 2023)	criteria provided, conflicting interpretations
Select item 99574538.	NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro) GRCh37: Chr17:7979656 GRCh38: Chr17:8076338	ALOX12B	S457P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574439.	NM_001139.3(ALOX12B):c.1349G>A (p.Gly450Glu) GRCh37: Chr17:7979988 GRCh38: Chr17:8076670	ALOX12B	G450E	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574340.	NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys) GRCh37: Chr17:7979598 GRCh38: Chr17:8076280	ALOX12B	Y476C	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574241.	NM_001139.3(ALOX12B):c.130_131del (p.Asp44fs) GRCh37: Chr17:7990630-7990631 GRCh38: Chr17:8087312-8087313	ALOX12B	D44fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574142.	NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr) GRCh37: Chr17:7980391 GRCh38: Chr17:8077073	ALOX12B	H398Y	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99574043.	NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys) GRCh37: Chr17:7980364 GRCh38: Chr17:8077046	ALOX12B	E407K	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573944.	NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu) GRCh37: Chr17:7980318 GRCh38: Chr17:8077000	ALOX12B	P422L	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573845.	NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His) GRCh37: Chr17:7980426 GRCh38: Chr17:8077108	ALOX12B	R386H	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573746.	NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr) GRCh37: Chr17:7980322 GRCh38: Chr17:8077004	ALOX12B	H421Y	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573647.	NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter) GRCh37: Chr17:7980456 GRCh38: Chr17:8077138	ALOX12B	W376*	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573548.	NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu) GRCh37: Chr17:7980505 GRCh38: Chr17:8077187	ALOX12B	Q360E	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573449.	NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr) GRCh37: Chr17:7982728 GRCh38: Chr17:8079410	ALOX12B	P353T	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573350.	NM_001139.3(ALOX12B):c.1926+2T>G GRCh37: Chr17:7976464 GRCh38: Chr17:8073146	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573251.	NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val) GRCh37: Chr17:7984487 GRCh38: Chr17:8081169	ALOX12B	D124V	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573152.	NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn) GRCh37: Chr17:7976571 GRCh38: Chr17:8073253	ALOX12B	K607N	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99573053.	NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr) GRCh37: Chr17:7976531 GRCh38: Chr17:8073213	ALOX12B	D621Y	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572954.	NM_001139.3(ALOX12B):c.2012del (p.Gln671fs) GRCh37: Chr17:7976183 GRCh38: Chr17:8072865	ALOX12B	Q671fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572855.	NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter) GRCh37: Chr17:7989361 GRCh38: Chr17:8086043	ALOX12B	E109*	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572756.	NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro) GRCh37: Chr17:7977036 GRCh38: Chr17:8073718	ALOX12B	R565P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572657.	NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter) GRCh37: Chr17:7976131 GRCh38: Chr17:8072813	ALOX12B	Y688*	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572558.	NM_001139.3(ALOX12B):c.1654+1G>A GRCh37: Chr17:7978912 GRCh38: Chr17:8075594	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572459.	NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr) GRCh37: Chr17:7976998 GRCh38: Chr17:8073680	ALOX12B	H578Y	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572360.	NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg) GRCh37: Chr17:7978933 GRCh38: Chr17:8075615	ALOX12B	L545R	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572261.	NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly) GRCh37: Chr17:7976988 GRCh38: Chr17:8073670	ALOX12B	V581G	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572162.	NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His) GRCh37: Chr17:7976159 GRCh38: Chr17:8072841	ALOX12B	R679H	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99572063.	NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser) GRCh37: Chr17:7976160 GRCh38: Chr17:8072842	ALOX12B	R679S	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99571964.	NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro) GRCh37: Chr17:7978954 GRCh38: Chr17:8075636	ALOX12B	Q538P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99571865.	NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs) GRCh37: Chr17:7977049-7977061 GRCh38: Chr17:8073731-8073743	ALOX12B	R558fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99571766.	NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys) GRCh37: Chr17:7976232 GRCh38: Chr17:8072914	ALOX12B	E655K	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99571667.	NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) GRCh37: Chr17:7989477 GRCh38: Chr17:8086159	ALOX12B	H70P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99571568.	NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) GRCh37: Chr17:7979620 GRCh38: Chr17:8076302	ALOX12B	R469W	not provided	Uncertain significance (Mar 27, 2019)	criteria provided, single submitter
Select item 99571469.	NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) GRCh37: Chr17:7980013 GRCh38: Chr17:8076695	ALOX12B	R442W	not specified	Uncertain significance (Jun 3, 2023)	criteria provided, single submitter
Select item 99571370.	NM_001139.3(ALOX12B):c.1071+1G>C GRCh37: Chr17:7982713 GRCh38: Chr17:8079395	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99571271.	NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) GRCh37: Chr17:7982760 GRCh38: Chr17:8079442	ALOX12B	L342P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99571172.	NM_001139.3(ALOX12B):c.1018del (p.Leu340fs) GRCh37: Chr17:7982767 GRCh38: Chr17:8079449	ALOX12B	L340fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99550273.	NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del) GRCh37: Chr17:7983562-7983573 GRCh38: Chr17:8080244-8080255	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99550174.	NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) GRCh37: Chr17:7980372 GRCh38: Chr17:8077054	ALOX12B	L404R	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99550075.	NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) GRCh37: Chr17:7989389 GRCh38: Chr17:8086071	ALOX12B	F99L	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549976.	NM_001139.3(ALOX12B):c.1654+3A>G GRCh37: Chr17:7978910 GRCh38: Chr17:8075592	ALOX12B		not provided	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 99549877.	NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) GRCh37: Chr17:7976195 GRCh38: Chr17:8072877	ALOX12B	Q667P	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549778.	NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) GRCh37: Chr17:7980028 GRCh38: Chr17:8076710	ALOX12B	I437F	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549679.	NM_001139.3(ALOX12B):c.1350del (p.Leu451fs) GRCh37: Chr17:7979987 GRCh38: Chr17:8076669	ALOX12B	L451fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549580.	NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) GRCh37: Chr17:7989466-7989491 GRCh38: Chr17:8086148-8086173	ALOX12B	I66fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549481.	NM_001139.3(ALOX12B):c.1071+1dup GRCh37: Chr17:7982712-7982713 GRCh38: Chr17:8079394-8079395	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549382.	NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) GRCh37: Chr17:7977054 GRCh38: Chr17:8073736	ALOX12B	T559I	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549283.	NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) GRCh37: Chr17:7976605 GRCh38: Chr17:8073287	ALOX12B	P596L	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549184.	NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr) GRCh37: Chr17:7982847 GRCh38: Chr17:8079529	ALOX12B	I313T	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99549085.	NM_001139.3(ALOX12B):c.467_470dup (p.His158fs) GRCh37: Chr17:7984258-7984259 GRCh38: Chr17:8080940-8080941	ALOX12B	H158fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548986.	NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) GRCh37: Chr17:7979562 GRCh38: Chr17:8076244	ALOX12B	R488H	Lamellar ichthyosis	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 99548887.	NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln) GRCh37: Chr17:7989345 GRCh38: Chr17:8086027	ALOX12B	R114Q	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548788.	NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) GRCh37: Chr17:7983609 GRCh38: Chr17:8080291	ALOX12B	W233*	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548689.	NM_001139.3(ALOX12B):c.928-1G>C GRCh37: Chr17:7982858 GRCh38: Chr17:8079540	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548590.	NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) GRCh37: Chr17:7978937 GRCh38: Chr17:8075619	ALOX12B	C544R	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548491.	NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup) GRCh37: Chr17:7976157-7976158 GRCh38: Chr17:8072839-8072840	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548392.	NM_001139.3(ALOX12B):c.1533-1G>T GRCh37: Chr17:7979035 GRCh38: Chr17:8075717	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548293.	NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) GRCh37: Chr17:7989379 GRCh38: Chr17:8086061	ALOX12B	Q103*	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99548194.	NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) GRCh37: Chr17:7990690 GRCh38: Chr17:8087372	ALOX12B	L24P	not provided, Lamellar ichthyosis	Pathogenic/Likely pathogenic (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99548095.	NM_001139.3(ALOX12B):c.1937dup (p.His647fs) GRCh37: Chr17:7976257-7976258 GRCh38: Chr17:8072939-8072940	ALOX12B	H647fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99547996.	NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del) GRCh37: Chr17:7979999-7980001 GRCh38: Chr17:8076681-8076683	ALOX12B	L446del	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99547897.	NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg) GRCh37: Chr17:7976101 GRCh38: Chr17:8072783	ALOX12B	S698R	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99547798.	NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs) GRCh37: Chr17:7976172-7976173 GRCh38: Chr17:8072854-8072855	ALOX12B	D675fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 99547699.	NM_001139.3(ALOX12B):c.1655-7C>A GRCh37: Chr17:7977082 GRCh38: Chr17:8073764	ALOX12B		Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided
Select item 995475100.	NM_001139.3(ALOX12B):c.864del (p.Val289fs) GRCh37: Chr17:7983150 GRCh38: Chr17:8079832	ALOX12B	V289fs	Autosomal recessive congenital ichthyosis 2	Pathogenic (Jan 7, 2021)	no assertion criteria provided

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