ClinVar for MedGen (Select 1634304) - ClinVar

Links from MedGen

Items: 68

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26280401.	NM_001384125.1(BLTP1):c.4752T>G (p.Tyr1584Ter) GRCh37: Chr4:123165018 GRCh38: Chr4:122243863	BLTP1	Y1584*	Alkuraya-Kucinskas syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25816892.	NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter) GRCh37: Chr4:123201078 GRCh38: Chr4:122279923	BLTP1	R2914*	Alkuraya-Kucinskas syndrome	Pathogenic (Aug 14, 2023)	criteria provided, single submitter
Select item 25797343.	NM_001384125.1(BLTP1):c.2171A>G (p.His724Arg) GRCh37: Chr4:123132174 GRCh38: Chr4:122211019	BLTP1	H724R	Alkuraya-Kucinskas syndrome	Uncertain significance (Sep 19, 2023)	criteria provided, single submitter
Select item 25797334.	NM_001384125.1(BLTP1):c.1957G>T (p.Val653Phe) GRCh37: Chr4:123130998 GRCh38: Chr4:122209843	BLTP1	V653F	Alkuraya-Kucinskas syndrome	Uncertain significance (Sep 19, 2023)	criteria provided, single submitter
Select item 25046435.	NM_001384125.1(BLTP1):c.1310G>A (p.Gly437Glu) GRCh37: Chr4:123120535 GRCh38: Chr4:122199380	BLTP1	G437E	Alkuraya-Kucinskas syndrome	Likely pathogenic (Jun 9, 2023)	no assertion criteria provided
Select item 24459926.	NM_001384125.1(BLTP1):c.1297C>G (p.Pro433Ala) GRCh37: Chr4:123120522 GRCh38: Chr4:122199367	BLTP1	P433A	Alkuraya-Kucinskas syndrome	Uncertain significance	no assertion criteria provided
Select item 24409937.	NM_001384125.1(BLTP1):c.4916+2T>C GRCh37: Chr4:123165184 GRCh38: Chr4:122244029	BLTP1		Alkuraya-Kucinskas syndrome	Likely pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 24409908.	NM_001384125.1(BLTP1):c.10872-1G>C GRCh37: Chr4:123239301 GRCh38: Chr4:122318146	BLTP1		Alkuraya-Kucinskas syndrome	Likely pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 24409889.	NM_001384125.1(BLTP1):c.772C>T (p.Arg258Ter) GRCh37: Chr4:123109194 GRCh38: Chr4:122188039	BLTP1	R258*	Alkuraya-Kucinskas syndrome	Likely pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 243311110.	NM_001384125.1(BLTP1):c.9082C>T (p.Arg3028Cys) GRCh37: Chr4:123207740 GRCh38: Chr4:122286585	BLTP1	R3028C	Alkuraya-Kucinskas syndrome	Uncertain significance (Feb 9, 2021)	criteria provided, single submitter
Select item 243311011.	NM_001384125.1(BLTP1):c.3389T>C (p.Leu1130Pro) GRCh37: Chr4:123155993 GRCh38: Chr4:122234838	BLTP1	L1130P	Alkuraya-Kucinskas syndrome	Uncertain significance (Feb 25, 2021)	criteria provided, single submitter
Select item 243310912.	NM_001384125.1(BLTP1):c.9209T>G (p.Val3070Gly) GRCh37: Chr4:123207867 GRCh38: Chr4:122286712	BLTP1	V3070G	Alkuraya-Kucinskas syndrome	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 243310813.	NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr) GRCh37: Chr4:123236755 GRCh38: Chr4:122315600	BLTP1	I3484T	Alkuraya-Kucinskas syndrome	Uncertain significance (Mar 20, 2019)	criteria provided, single submitter
Select item 243310714.	NM_001384125.1(BLTP1):c.901+49_901+53dup GRCh37: Chr4:123111282-123111283 GRCh38: Chr4:122190127-122190128	BLTP1		Alkuraya-Kucinskas syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 243310615.	NM_001384125.1(BLTP1):c.2308G>A (p.Val770Ile) GRCh37: Chr4:123140555 GRCh38: Chr4:122219400	BLTP1	V770I	Alkuraya-Kucinskas syndrome	Uncertain significance (Oct 12, 2019)	criteria provided, single submitter
Select item 243310516.	NM_001384125.1(BLTP1):c.8713C>G (p.Pro2905Ala) GRCh37: Chr4:123201051 GRCh38: Chr4:122279896	BLTP1	P2905A	Alkuraya-Kucinskas syndrome	Uncertain significance (Feb 25, 2021)	criteria provided, single submitter
Select item 243310417.	NM_001384125.1(BLTP1):c.14935G>C (p.Gly4979Arg) GRCh37: Chr4:123280747 GRCh38: Chr4:122359592	BLTP1	G4891R, G4979R	Alkuraya-Kucinskas syndrome	Uncertain significance (Oct 12, 2019)	criteria provided, single submitter
Select item 243310318.	NM_001384125.1(BLTP1):c.12692G>C (p.Ser4231Thr) GRCh37: Chr4:123264640 GRCh38: Chr4:122343485	BLTP1	S4143T, S4231T	Alkuraya-Kucinskas syndrome	Uncertain significance (Oct 24, 2019)	criteria provided, single submitter
Select item 243310219.	NM_001384125.1(BLTP1):c.10079C>G (p.Thr3360Ser) GRCh37: Chr4:123230446 GRCh38: Chr4:122309291	BLTP1	T3360S	Alkuraya-Kucinskas syndrome	Uncertain significance (Oct 11, 2019)	criteria provided, single submitter
Select item 243310020.	NM_001384125.1(BLTP1):c.11650C>T (p.Arg3884Trp) GRCh37: Chr4:123252617 GRCh38: Chr4:122331462	BLTP1	R3796W, R3884W	Alkuraya-Kucinskas syndrome	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 243309921.	NM_001384125.1(BLTP1):c.10784C>T (p.Pro3595Leu) GRCh37: Chr4:123237930 GRCh38: Chr4:122316775	BLTP1	P3528L, P3595L	Alkuraya-Kucinskas syndrome	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 180631122.	NM_001384125.1(BLTP1):c.9222T>G (p.Asp3074Glu) GRCh37: Chr4:123207880 GRCh38: Chr4:122286725	BLTP1	D3074E	Alkuraya-Kucinskas syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 180615823.	NM_001384125.1(BLTP1):c.13411T>A (p.Ser4471Thr) GRCh37: Chr4:123269739 GRCh38: Chr4:122348584	BLTP1	S4383T, S4471T	Alkuraya-Kucinskas syndrome	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 180603124.	NM_001384125.1(BLTP1):c.14230A>G (p.Met4744Val) GRCh37: Chr4:123274175 GRCh38: Chr4:122353020	BLTP1	M4656V, M4744V	Alkuraya-Kucinskas syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 180567825.	NM_001384125.1(BLTP1):c.10741-5T>C GRCh37: Chr4:123237882 GRCh38: Chr4:122316727	BLTP1		Alkuraya-Kucinskas syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 170525826.	NM_001384125.1(BLTP1):c.12617-2A>G GRCh37: Chr4:123264563 GRCh38: Chr4:122343408	BLTP1		Alkuraya-Kucinskas syndrome	Likely pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 167959527.	NM_001384125.1(BLTP1):c.2992G>T (p.Asp998Tyr) GRCh37: Chr4:123150345 GRCh38: Chr4:122229190	BLTP1	D998Y	Alkuraya-Kucinskas syndrome, Inborn genetic diseases	Uncertain significance (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167959428.	NM_001384125.1(BLTP1):c.2209_2247+201dup GRCh37: Chr4:123132209-123132210 GRCh38: Chr4:122211054-122211055	BLTP1		Alkuraya-Kucinskas syndrome	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 152797029.	NM_001384125.1(BLTP1):c.13702+3A>G GRCh37: Chr4:123270473 GRCh38: Chr4:122349318	BLTP1		Alkuraya-Kucinskas syndrome	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 133885730.	NM_001384125.1(BLTP1):c.11368C>T (p.Pro3790Ser) GRCh37: Chr4:123249367 GRCh38: Chr4:122328212	BLTP1	P3702S, P3790S	Alkuraya-Kucinskas syndrome	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 133885631.	NM_001384125.1(BLTP1):c.2783C>T (p.Thr928Ile) GRCh37: Chr4:123145822 GRCh38: Chr4:122224667	BLTP1	T928I	Alkuraya-Kucinskas syndrome	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 132461832.	NM_001384125.1(BLTP1):c.11413C>T (p.Arg3805Ter) GRCh37: Chr4:123249412 GRCh38: Chr4:122328257	BLTP1	R3717, R3805	Alkuraya-Kucinskas syndrome	Likely pathogenic (Feb 22, 2021)	criteria provided, single submitter
Select item 132314433.	NM_001384125.1(BLTP1):c.4287dup (p.Arg1430Ter) GRCh37: Chr4:123161123-123161124 GRCh38: Chr4:122239968-122239969	BLTP1	R1430*	Alkuraya-Kucinskas syndrome	Pathogenic (Oct 24, 2019)	criteria provided, single submitter
Select item 132314334.	NM_001384125.1(BLTP1):c.9370_9371dup (p.Val3124_Ile3125insTer) GRCh37: Chr4:123210328-123210329 GRCh38: Chr4:122289173-122289174	BLTP1		Alkuraya-Kucinskas syndrome	Pathogenic (Nov 13, 2019)	criteria provided, single submitter
Select item 130172335.	NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp) GRCh37: Chr4:123094241 GRCh38: Chr4:122173086	BLTP1	R50W	not provided, Alkuraya-Kucinskas syndrome	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128127036.	NM_001384125.1(BLTP1):c.7704T>C (p.Asp2568=) GRCh37: Chr4:123192383 GRCh38: Chr4:122271228	BLTP1		Alkuraya-Kucinskas syndrome, not provided	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 127190937.	NM_001384125.1(BLTP1):c.2712T>A (p.Pro904=) GRCh37: Chr4:123145751 GRCh38: Chr4:122224596	BLTP1		Alkuraya-Kucinskas syndrome, not provided	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125204938.	NM_001384125.1(BLTP1):c.11514-1G>A GRCh37: Chr4:123252480 GRCh38: Chr4:122331325	BLTP1		Alkuraya-Kucinskas syndrome	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 125204839.	NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter) GRCh37: Chr4:123258092 GRCh38: Chr4:122336937	BLTP1	E4023, E4111	Alkuraya-Kucinskas syndrome	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 124412840.	NM_001384125.1(BLTP1):c.9870C>T (p.Ala3290=) GRCh37: Chr4:123229132 GRCh38: Chr4:122307977	BLTP1		Alkuraya-Kucinskas syndrome, not provided	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122936741.	NM_001384125.1(BLTP1):c.2475+17G>C GRCh37: Chr4:123140739 GRCh38: Chr4:122219584	BLTP1		Alkuraya-Kucinskas syndrome, not provided	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106457642.	NM_001384125.1(BLTP1):c.10994G>A (p.Arg3665Gln) GRCh37: Chr4:123239424 GRCh38: Chr4:122318269	BLTP1	R3598Q, R3665Q	Alkuraya-Kucinskas syndrome	Uncertain significance (Feb 1, 2021)	criteria provided, single submitter
Select item 106457543.	NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser) GRCh37: Chr4:123151089 GRCh38: Chr4:122229934	BLTP1	G1016S	Alkuraya-Kucinskas syndrome, Inborn genetic diseases	Uncertain significance (Mar 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103376744.	NM_001384125.1(BLTP1):c.9225A>C (p.Glu3075Asp) GRCh37: Chr4:123207883 GRCh38: Chr4:122286728	BLTP1	E3075D	Alkuraya-Kucinskas syndrome	Uncertain significance (Sep 5, 2018)	criteria provided, single submitter
Select item 103376645.	NM_001384125.1(BLTP1):c.8411T>C (p.Ile2804Thr) GRCh37: Chr4:123193525 GRCh38: Chr4:122272370	BLTP1	I2804T	Inborn genetic diseases, Alkuraya-Kucinskas syndrome, not provided	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103376546.	NM_001384125.1(BLTP1):c.822-3T>C GRCh37: Chr4:123111152 GRCh38: Chr4:122189997	BLTP1		Alkuraya-Kucinskas syndrome	Uncertain significance (Sep 7, 2018)	criteria provided, single submitter
Select item 103376447.	NM_001384125.1(BLTP1):c.4538T>C (p.Ile1513Thr) GRCh37: Chr4:123161375 GRCh38: Chr4:122240220	BLTP1	I1513T	Alkuraya-Kucinskas syndrome	Uncertain significance (Mar 21, 2018)	criteria provided, single submitter
Select item 103376348.	NM_001384125.1(BLTP1):c.4064C>T (p.Ser1355Leu) GRCh37: Chr4:123160901 GRCh38: Chr4:122239746	BLTP1	S1355L	Alkuraya-Kucinskas syndrome	Uncertain significance (Sep 6, 2018)	criteria provided, single submitter
Select item 103376249.	NM_001384125.1(BLTP1):c.13909C>G (p.His4637Asp) GRCh37: Chr4:123271025 GRCh38: Chr4:122349870	BLTP1	H4637D, H4549D	Alkuraya-Kucinskas syndrome	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 103376150.	NM_001384125.1(BLTP1):c.12610A>C (p.Ile4204Leu) GRCh37: Chr4:123260557 GRCh38: Chr4:122339402	BLTP1	I4116L, I4204L	Alkuraya-Kucinskas syndrome	Uncertain significance (Nov 24, 2018)	criteria provided, single submitter
Select item 103376051.	NM_001384125.1(BLTP1):c.12407G>A (p.Arg4136Gln) GRCh37: Chr4:123258168 GRCh38: Chr4:122337013	BLTP1	R4136Q, R4048Q	Alkuraya-Kucinskas syndrome	Uncertain significance (Jun 25, 2018)	criteria provided, single submitter
Select item 103049052.	NM_001384125.1(BLTP1):c.4533G>C (p.Gln1511His) GRCh37: Chr4:123161370 GRCh38: Chr4:122240215	BLTP1	Q1511H	Alkuraya-Kucinskas syndrome	Uncertain significance (Jun 28, 2019)	criteria provided, single submitter
Select item 103048953.	NM_001384125.1(BLTP1):c.3263del (p.His1088fs) GRCh37: Chr4:123151306 GRCh38: Chr4:122230151	BLTP1	H1088fs	Alkuraya-Kucinskas syndrome	Pathogenic (Feb 13, 2019)	criteria provided, single submitter
Select item 98242254.	NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr) GRCh37: Chr4:123252674 GRCh38: Chr4:122331519	BLTP1	H3815Y, H3903Y	Alkuraya-Kucinskas syndrome	Uncertain significance (Jul 31, 2020)	criteria provided, single submitter
Select item 98242155.	NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn) GRCh37: Chr4:123277009 GRCh38: Chr4:122355854	BLTP1	K4788N, K4876N	Alkuraya-Kucinskas syndrome	Uncertain significance (Jul 31, 2020)	criteria provided, single submitter
Select item 93060756.	NM_001384125.1(BLTP1):c.4118C>G (p.Ser1373Cys) GRCh37: Chr4:123160955 GRCh38: Chr4:122239800	BLTP1	S1373C	Alkuraya-Kucinskas syndrome	Uncertain significance (Jan 15, 2020)	criteria provided, single submitter
Select item 93060657.	NM_001384125.1(BLTP1):c.1156C>T (p.Arg386Ter) GRCh37: Chr4:123117893 GRCh38: Chr4:122196738	BLTP1	R386*	Alkuraya-Kucinskas syndrome	Likely pathogenic (Jan 15, 2020)	criteria provided, single submitter
Select item 92983558.	NM_001384125.1(BLTP1):c.2431A>G (p.Thr811Ala) GRCh37: Chr4:123140678 GRCh38: Chr4:122219523	BLTP1	T811A	Alkuraya-Kucinskas syndrome	Likely pathogenic (Feb 9, 2020)	criteria provided, single submitter
Select item 80967659.	NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg) GRCh37: Chr4:123108615 GRCh38: Chr4:122187460	BLTP1	P192R	not provided, Alkuraya-Kucinskas syndrome	Conflicting interpretations of pathogenicity (Oct 19, 2020)	criteria provided, conflicting interpretations
Select item 80444760.	NM_001384125.1(BLTP1):c.1381-2A>G GRCh37: Chr4:123122162 GRCh38: Chr4:122201007	BLTP1		Alkuraya-Kucinskas syndrome	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 80098661.	NM_001384125.1(BLTP1):c.1183del (p.Ile395fs) GRCh37: Chr4:123117919 GRCh38: Chr4:122196764	BLTP1	I395fs	Alkuraya-Kucinskas syndrome	Uncertain significance (Sep 26, 2019)	no assertion criteria provided
Select item 52304562.	NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys) GRCh37: Chr4:123107271 GRCh38: Chr4:122186116	BLTP1	R147C	Alkuraya-Kucinskas syndrome	Uncertain significance (Dec 18, 2017)	criteria provided, single submitter
Select item 48755163.	NM_001384125.1(BLTP1):c.10153G>C (p.Gly3385Arg) GRCh37: Chr4:123230520 GRCh38: Chr4:122309365	BLTP1	G3385R	Alkuraya-Kucinskas syndrome	Pathogenic (Jan 11, 2018)	no assertion criteria provided
Select item 48755064.	NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys) GRCh37: Chr4:123147970 GRCh38: Chr4:122226815	BLTP1	R968C	not provided	Likely pathogenic (Aug 16, 2023)	criteria provided, single submitter
Select item 48754965.	NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs) GRCh37: Chr4:123159280 GRCh38: Chr4:122238125	BLTP1	N1204fs	Alkuraya-Kucinskas syndrome	Pathogenic (Jan 11, 2018)	no assertion criteria provided
Select item 48754866.	NM_001384125.1(BLTP1):c.5599G>A (p.Val1867Met) GRCh37: Chr4:123170726 GRCh38: Chr4:122249571	BLTP1	V1867M	Alkuraya-Kucinskas syndrome	Pathogenic (Jan 11, 2018)	no assertion criteria provided
Select item 48754767.	NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys) GRCh37: Chr4:123160823 GRCh38: Chr4:122239668	BLTP1	Y1329C	not provided	Uncertain significance (Dec 23, 2020)	criteria provided, single submitter
Select item 18334968.	NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) GRCh37: Chr4:123128323 GRCh38: Chr4:122207168	BLTP1	Y519*	Alkuraya-Kucinskas syndrome, Pleural effusion, Hydrocephalus, Dandy-Walker syndrome, Micrognathia, Flexed deformity, Talipes equinovarus	Pathogenic/Likely pathogenic (Jan 13, 2015)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 68