ClinVar for Gene (Select 8720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293580	NM_003791.4(MBTPS1):c.671A>G (p.Lys224Arg)	MBTPS1 (K224R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293578	NM_003791.4(MBTPS1):c.65G>A (p.Gly22Asp)	MBTPS1 (G22D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293577	NM_003791.4(MBTPS1):c.2820G>C (p.Glu940Asp)	MBTPS1 (E940D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293576	NM_003791.4(MBTPS1):c.2906G>A (p.Arg969His)	MBTPS1 (R969H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293575	NM_003791.4(MBTPS1):c.1847C>T (p.Thr616Ile)	MBTPS1 (T616I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293574	NM_003791.4(MBTPS1):c.2401G>A (p.Val801Ile)	MBTPS1 (V801I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3293573	NM_003791.4(MBTPS1):c.1399G>A (p.Asp467Asn)	MBTPS1 (D467N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243637	NC_000016.9:g.(?_84115332)_(84115533_?)del	MBTPS1	Deletion	not provided	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3124148	NM_003791.4(MBTPS1):c.814C>T (p.Leu272Phe)	MBTPS1 (L272F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124147	NM_003791.4(MBTPS1):c.659G>C (p.Gly220Ala)	MBTPS1 (G220A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124146	NM_003791.4(MBTPS1):c.479G>A (p.Arg160His)	MBTPS1 (R160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124145	NM_003791.4(MBTPS1):c.422C>G (p.Ser141Cys)	MBTPS1 (S141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124144	NM_003791.4(MBTPS1):c.404C>A (p.Ser135Tyr)	MBTPS1 (S135Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124142	NM_003791.4(MBTPS1):c.3149C>A (p.Pro1050His)	MBTPS1 (P1050H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124140	NM_003791.4(MBTPS1):c.2786G>A (p.Arg929His)	MBTPS1 (R929H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124139	NM_003791.4(MBTPS1):c.2728A>G (p.Lys910Glu)	MBTPS1 (K910E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124138	NM_003791.4(MBTPS1):c.271A>G (p.Asn91Asp)	MBTPS1 (N91D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124137	NM_003791.4(MBTPS1):c.2709C>G (p.Asn903Lys)	MBTPS1 (N903K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124136	NM_003791.4(MBTPS1):c.227C>G (p.Ala76Gly)	MBTPS1 (A76G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124135	NM_003791.4(MBTPS1):c.2161G>A (p.Val721Ile)	MBTPS1 (V721I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124134	NM_003791.4(MBTPS1):c.203C>T (p.Ala68Val)	MBTPS1 (A68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124133	NM_003791.4(MBTPS1):c.1813G>T (p.Val605Leu)	MBTPS1 (V605L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124132	NM_003791.4(MBTPS1):c.1706C>T (p.Thr569Ile)	MBTPS1 (T569I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124130	NM_003791.4(MBTPS1):c.1352G>A (p.Arg451Gln)	MBTPS1 (R451Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124129	NM_003791.4(MBTPS1):c.1301G>A (p.Arg434His)	MBTPS1 (R434H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124128	NM_003791.4(MBTPS1):c.1243G>A (p.Val415Ile)	MBTPS1 (V415I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067824	NM_003791.4(MBTPS1):c.2927C>T (p.Ser976Phe)	MBTPS1 (S976F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3065874	NM_003791.4(MBTPS1):c.2896C>T (p.Arg966Ter)	MBTPS1 (R966*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia, kondo-fu type	GLikely pathogenic
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063461	GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3	ADAD2, DNAAF1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063401	GRCh37/hg19 16q23.3-24.1(chr16:84009532-84245489)x1	ADAD2, DNAAF1 +6 more	Copy number loss	not specified	GPathogenic
Select item 3060449	NM_003791.4(MBTPS1):c.*7G>A	MBTPS1	Single nucleotide variant (3 prime UTR variant)	MBTPS1-related disorder	GBenign
Select item 3033142	NM_003791.4(MBTPS1):c.1783-3del	MBTPS1	Deletion (intron variant)	MBTPS1-related disorder	GLikely benign
Select item 3022929	NM_003791.4(MBTPS1):c.2817C>T (p.Asn939=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022242	NM_003791.4(MBTPS1):c.2940C>T (p.Ser980=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018275	NM_003791.4(MBTPS1):c.3084G>A (p.Pro1028=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015375	NM_003791.4(MBTPS1):c.275A>G (p.Asn92Ser)	MBTPS1 (N92S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014141	NM_003791.4(MBTPS1):c.625+10A>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010164	NM_003791.4(MBTPS1):c.421+15T>C	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006476	NM_003791.4(MBTPS1):c.66C>A (p.Gly22=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006316	NM_003791.4(MBTPS1):c.1632C>T (p.Asn544=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002746	NM_003791.4(MBTPS1):c.963+19C>T	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001978	NM_003791.4(MBTPS1):c.2856A>G (p.Leu952=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998175	NM_003791.4(MBTPS1):c.2354-9_2354-8del	MBTPS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2990820	NM_003791.4(MBTPS1):c.1032-10C>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979310	NM_003791.4(MBTPS1):c.737-4G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978362	NM_003791.4(MBTPS1):c.1662C>T (p.Val554=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978214	NM_003791.4(MBTPS1):c.786G>A (p.Glu262=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975165	NM_003791.4(MBTPS1):c.594G>A (p.Gln198=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974571	NM_003791.4(MBTPS1):c.422-11C>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974368	NM_003791.4(MBTPS1):c.2432-19T>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973752	NM_003791.4(MBTPS1):c.2071+7G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968884	NM_003791.4(MBTPS1):c.1448+18C>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968204	NM_003791.4(MBTPS1):c.933G>A (p.Pro311=)	LOC126862423, MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967557	NM_003791.4(MBTPS1):c.2831+12C>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963751	NM_003791.4(MBTPS1):c.964-16A>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963415	NM_003791.4(MBTPS1):c.100C>G (p.Pro34Ala)	MBTPS1 (P34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960198	NM_003791.4(MBTPS1):c.2228+13C>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958100	NM_003791.4(MBTPS1):c.1956-14C>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957690	NM_003791.4(MBTPS1):c.1956-12A>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956598	NM_003791.4(MBTPS1):c.1782+13G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955830	NM_003791.4(MBTPS1):c.422-13C>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955762	NM_003791.4(MBTPS1):c.1134+17T>C	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954994	NM_003791.4(MBTPS1):c.2831+15G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919765	NM_003791.4(MBTPS1):c.1536A>C (p.Thr512=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914189	NM_003791.4(MBTPS1):c.1533G>A (p.Pro511=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906627	NM_003791.4(MBTPS1):c.759G>T (p.Val253=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906534	NM_003791.4(MBTPS1):c.1344G>A (p.Ala448=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904052	NM_003791.4(MBTPS1):c.1623C>T (p.Asn541=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902886	NM_003791.4(MBTPS1):c.2595C>T (p.Ala865=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897283	NM_003791.4(MBTPS1):c.2573-4G>A	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894580	NM_003791.4(MBTPS1):c.1135-4A>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888092	NM_003791.4(MBTPS1):c.3018C>T (p.Ala1006=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887912	NM_003791.4(MBTPS1):c.1440A>G (p.Pro480=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887905	NM_003791.4(MBTPS1):c.104G>A (p.Cys35Tyr)	MBTPS1 (C35Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885130	NM_003791.4(MBTPS1):c.1722C>T (p.Ser574=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879624	NM_003791.4(MBTPS1):c.737-11A>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877271	NM_003791.4(MBTPS1):c.2675C>T (p.Ala892Val)	MBTPS1 (A892V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873417	NM_003791.4(MBTPS1):c.1099A>G (p.Ile367Val)	MBTPS1 (I367V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869512	NM_003791.4(MBTPS1):c.2799C>G (p.Ala933=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866697	NM_003791.4(MBTPS1):c.1659G>A (p.Ser553=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857071	NM_003791.4(MBTPS1):c.831C>T (p.Val277=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834631	NM_003791.4(MBTPS1):c.498C>T (p.Ser166=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827877	NM_003791.4(MBTPS1):c.936C>G (p.Asp312Glu)	LOC126862423, MBTPS1 (D312E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819337	NM_003791.4(MBTPS1):c.736+10A>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816486	NM_003791.4(MBTPS1):c.2562C>T (p.His854=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809226	NM_003791.4(MBTPS1):c.2573-15T>C	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807502	NM_003791.4(MBTPS1):c.2431+17A>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785090	NM_003791.4(MBTPS1):c.381G>A (p.Thr127=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780645	NM_003791.4(MBTPS1):c.963+8G>A	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778589	NM_003791.4(MBTPS1):c.964-18T>C	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776379	NM_003791.4(MBTPS1):c.1135-16C>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770780	NM_003791.4(MBTPS1):c.2573-4G>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761526	NM_003791.4(MBTPS1):c.1594-13C>G	MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729798	NM_003791.4(MBTPS1):c.737-3C>T	MBTPS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2726451	NM_003791.4(MBTPS1):c.1101C>T (p.Ile367=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722605	NM_003791.4(MBTPS1):c.2272C>G (p.Leu758Val)	MBTPS1 (L758V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714160	NM_003791.4(MBTPS1):c.1179C>G (p.Thr393=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2712953	NM_003791.4(MBTPS1):c.1335C>A (p.Ala445=)	MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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