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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1297123	NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser)	SAMD11 (P108S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 959730	NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu)	SAMD11 (K366E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 916564	NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu)	KLHL17 (A561E)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 3068432	NC_000001.11:g.976618_977825del	AGRN, PERM1	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 8	GPathogenic
Select item 1185392	NM_005101.4(ISG15):c.-108_-107insA	ISG15	Duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GBenign
Select item 1185393	NM_005101.4(ISG15):c.-84C>G	ISG15	Single nucleotide variant	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more	GBenign
Select item 1185394	NM_005101.4(ISG15):c.-33T>C	ISG15	Single nucleotide variant (5 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more	GBenign
Select item 2012325	NM_005101.4(ISG15):c.3+5G>C	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1185395	NM_005101.4(ISG15):c.4-129G>A	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GBenign
Select item 2706162	NM_005101.4(ISG15):c.4-11G>T	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 967439	NM_005101.4(ISG15):c.4-6C>A	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2976026	NM_005101.4(ISG15):c.4-4G>T	ISG15	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1028857	NM_005101.4(ISG15):c.4-1G>A	ISG15	Single nucleotide variant (splice acceptor variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GPathogenic/Likely pathogenic
Select item 1136240	NM_005101.4(ISG15):c.6C>T (p.Gly2=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2085125	NM_005101.4(ISG15):c.17C>T (p.Thr6Met)	ISG15 (T6M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1035971	NM_005101.4(ISG15):c.17C>A (p.Thr6Lys)	ISG15 (T6K)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1118824	NM_005101.4(ISG15):c.18G>A (p.Thr6=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 942967	NM_005101.4(ISG15):c.31G>A (p.Ala11Thr)	ISG15 (A11T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 661610	NM_005101.4(ISG15):c.32C>T (p.Ala11Val)	ISG15 (A11V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1165230	NM_005101.4(ISG15):c.33G>A (p.Ala11=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GBenign
Select item 1099068	NM_005101.4(ISG15):c.39C>T (p.Asn13=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2836779	NM_005101.4(ISG15):c.41A>T (p.Glu14Val)	ISG15 (E14V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 475283	NM_005101.4(ISG15):c.62G>A (p.Ser21Asn)	ISG15 (S21N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GBenign
Select item 1403707	NM_005101.4(ISG15):c.65C>T (p.Ser22Phe)	ISG15 (S22F)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 639487	NM_005101.4(ISG15):c.67A>G (p.Met23Val)	ISG15 (M23V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1360941	NM_005101.4(ISG15):c.71C>T (p.Ser24Leu)	ISG15 (S24L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 1577559	NM_005101.4(ISG15):c.72G>A (p.Ser24=)	ISG15	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1042671	NM_005101.4(ISG15):c.73G>T (p.Val25Leu)	ISG15 (V25L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 740895	NM_005101.4(ISG15):c.78A>G (p.Ser26=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GBenign
Select item 1663977	NM_005101.4(ISG15):c.82C>T (p.Leu28=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1354468	NM_005101.4(ISG15):c.83T>A (p.Leu28Gln)	ISG15 (L28Q)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GConflicting classifications of pathogenicity
Select item 1610388	NM_005101.4(ISG15):c.90G>T (p.Ala30=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1157490	NM_005101.4(ISG15):c.90G>A (p.Ala30=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1162796	NM_005101.4(ISG15):c.95T>A (p.Ile32Asn)	ISG15 (I32N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 1473644	NM_005101.4(ISG15):c.100C>G (p.Gln34Glu)	ISG15 (Q34E)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1572131	NM_005101.4(ISG15):c.108C>T (p.Ile36=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 950193	NM_005101.4(ISG15):c.112G>A (p.Val38Met)	ISG15 (V38M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1083206	NM_005101.4(ISG15):c.117C>T (p.His39=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1960011	NM_005101.4(ISG15):c.118G>A (p.Ala40Thr)	ISG15 (A40T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 659187	NM_005101.4(ISG15):c.131G>A (p.Arg44His)	ISG15 (R44H)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1105607	NM_005101.4(ISG15):c.135G>T (p.Leu45=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 542074	NM_005101.4(ISG15):c.142C>T (p.His48Tyr)	ISG15 (H48Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2165426	NM_005101.4(ISG15):c.146C>T (p.Pro49Leu)	ISG15 (P49L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1109299	NM_005101.4(ISG15):c.147G>A (p.Pro49=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1090600	NM_005101.4(ISG15):c.150C>T (p.Ser50=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1644340	NM_005101.4(ISG15):c.151G>T (p.Gly51Cys)	ISG15 (G51C)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 957804	NM_005101.4(ISG15):c.151G>A (p.Gly51Ser)	ISG15 (G51S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 652606	NM_005101.4(ISG15):c.158C>T (p.Ala53Val)	ISG15 (A53V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1913523	NM_005101.4(ISG15):c.159G>A (p.Ala53=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 183381	NM_005101.4(ISG15):c.163C>T (p.Gln55Ter)	ISG15 (Q55*)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GPathogenic
Select item 755607	NM_005101.4(ISG15):c.171G>A (p.Arg57=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1474952	NM_005101.4(ISG15):c.175C>T (p.Pro59Ser)	ISG15 (P59S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1139345	NM_005101.4(ISG15):c.193C>T (p.Leu65=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 542075	NM_005101.4(ISG15):c.199C>T (p.Pro67Ser)	ISG15 (P67S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1114000	NM_005101.4(ISG15):c.201C>T (p.Pro67=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 661288	NM_005101.4(ISG15):c.202G>A (p.Gly68Ser)	ISG15 (G68S)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 2777295	NM_005101.4(ISG15):c.207C>T (p.Ser69=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1505596	NM_005101.4(ISG15):c.209C>T (p.Thr70Met)	ISG15 (T70M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more	GUncertain significance
Select item 1160142	NM_005101.4(ISG15):c.210G>A (p.Thr70=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1170512	NM_005101.4(ISG15):c.219G>T (p.Leu73=)	ISG15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2895660	NM_005101.4(ISG15):c.225G>A (p.Val75=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2890741	NM_005101.4(ISG15):c.234C>T (p.Cys78=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 475278	NM_005101.4(ISG15):c.237C>T (p.Asp79=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GBenign/Likely benign
Select item 655870	NM_005101.4(ISG15):c.242C>T (p.Pro81Leu)	ISG15 (P81L)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 2123900	NM_005101.4(ISG15):c.244C>T (p.Leu82=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 915424	NM_005101.4(ISG15):c.247_255del (p.Ser83_Leu85del)	ISG15	Deletion (inframe_deletion)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1923926	NM_005101.4(ISG15):c.246G>A (p.Leu82=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 402986	NM_005101.4(ISG15):c.248G>A (p.Ser83Asn)	ISG15 (S83N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1494456	NM_005101.4(ISG15):c.254T>C (p.Leu85Pro)	ISG15 (L85P)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1396122	NM_005101.4(ISG15):c.256G>A (p.Val86Met)	ISG15 (V86M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 658311	NM_005101.4(ISG15):c.271G>A (p.Gly91Ser)	ISG15 (G91S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 571208	NM_005101.4(ISG15):c.275G>A (p.Arg92His)	ISG15 (R92H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2085710	NM_005101.4(ISG15):c.285del (p.Tyr96fs)	ISG15 (Y96fs)	Deletion (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1948866	NM_005101.4(ISG15):c.286dup (p.Tyr96fs)	ISG15 (Y96fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1668319	NM_005101.4(ISG15):c.288C>T (p.Tyr96=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 2163956	NM_005101.4(ISG15):c.289G>A (p.Glu97Lys)	ISG15 (E97K)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1166514	NM_005101.4(ISG15):c.294A>G (p.Val98=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +2 more	GBenign
Select item 969834	NM_005101.4(ISG15):c.294_295inv (p.Arg99Trp)	ISG15 (R99W)	Inversion (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 568195	NM_005101.4(ISG15):c.296G>A (p.Arg99Gln)	ISG15 (R99Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2832527	NM_005101.4(ISG15):c.301A>G (p.Thr101Ala)	ISG15 (T101A)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 858156	NM_005101.4(ISG15):c.302C>T (p.Thr101Met)	ISG15 (T101M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1149767	NM_005101.4(ISG15):c.303G>A (p.Thr101=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1673004	NM_005101.4(ISG15):c.306G>A (p.Gln102=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1023883	NM_005101.4(ISG15):c.310G>A (p.Val104Met)	ISG15 (V104M)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1047697	NM_005101.4(ISG15):c.313G>A (p.Ala105Thr)	ISG15 (A105T)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2156373	NM_005101.4(ISG15):c.319C>G (p.Leu107Val)	ISG15 (L107V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2046429	NM_005101.4(ISG15):c.321G>A (p.Leu107=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1113185	NM_005101.4(ISG15):c.336C>T (p.Ser112=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 161455	NM_005101.4(ISG15):c.339dup (p.Leu114fs)	ISG15 (L114fs)	Duplication (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GPathogenic
Select item 2108530	NM_005101.4(ISG15):c.339G>A (p.Gly113=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1042776	NM_005101.4(ISG15):c.347G>T (p.Gly116Val)	ISG15 (G116V)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1061485	NM_005101.4(ISG15):c.352C>T (p.Gln118Ter)	ISG15 (Q118*)	Single nucleotide variant (nonsense)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1036426	NM_005101.4(ISG15):c.355G>A (p.Asp119Asn)	ISG15 (D119N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 1079246	NM_005101.4(ISG15):c.357C>T (p.Asp119=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 1011331	NM_005101.4(ISG15):c.358G>A (p.Asp120Asn)	ISG15 (D120N)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more	GUncertain significance
Select item 2046714	NM_005101.4(ISG15):c.369G>T (p.Trp123Cys)	ISG15 (W123C)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2133800	NM_005101.4(ISG15):c.372G>A (p.Leu124=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 762588	NM_005101.4(ISG15):c.378C>T (p.Phe126=)	ISG15	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GLikely benign
Select item 648609	NM_005101.4(ISG15):c.379G>A (p.Glu127Lys)	ISG15 (E127K)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance

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