Related gene-specific medical variations for Gene (Select 100873919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3026667	NM_000266.4(NDP):c.170del (p.Ser56_Ser57insTer)	NDP, NDP-AS1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 3014542	NM_000266.4(NDP):c.77C>T (p.Thr26Met)	NDP, NDP-AS1 (T26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001312	NM_000266.4(NDP):c.346C>T (p.Leu116Phe)	NDP, NDP-AS1 (L116F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2998376	NM_000266.4(NDP):c.389A>G (p.Glu130Gly)	NDP, NDP-AS1 (E130G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2990782	NM_000266.4(NDP):c.80A>G (p.Asp27Gly)	NDP, NDP-AS1 (D27G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903971	NM_000266.4(NDP):c.84C>T (p.Ser28=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854054	NM_000266.4(NDP):c.262C>A (p.Pro88Thr)	NDP, NDP-AS1 (P88T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2833339	NM_000266.4(NDP):c.157T>C (p.Tyr53His)	NDP, NDP-AS1 (Y53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789382	NM_000266.4(NDP):c.213G>A (p.Gln71=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2737216	NM_000266.4(NDP):c.65del (p.Thr22fs)	NDP, NDP-AS1 (T22fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2737215	NM_000266.4(NDP):c.274T>C (p.Ser92Pro)	NDP, NDP-AS1 (S92P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2737214	NM_000266.4(NDP):c.295C>T (p.Gln99Ter)	NDP, NDP-AS1 (Q99*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2737213	NM_000266.4(NDP):c.333del (p.Gly113fs)	NDP, NDP-AS1 (G113fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2737212	NM_000266.4(NDP):c.343C>T (p.Arg115Ter)	NDP, NDP-AS1 (R115*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2737210	NM_000266.4(NDP):c.368T>A (p.Ile123Asn)	NDP, NDP-AS1 (I123N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2707125	NM_000266.4(NDP):c.175-6C>T	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2693748	NM_000266.4(NDP):c.310A>T (p.Lys104Ter)	NDP, NDP-AS1 (K104*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2673226	NM_000266.4(NDP):c.186G>T (p.Leu62=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2663356	NM_000266.4(NDP):c.164G>C (p.Cys55Ser)	NDP, NDP-AS1 (C55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573710	NM_000266.4(NDP):c.-207-5T>C	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2430453	NM_000266.4(NDP):c.388G>T (p.Glu130Ter)	NDP, NDP-AS1 (E130*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2169644	NM_000266.4(NDP):c.118A>G (p.Met40Val)	NDP, NDP-AS1 (M40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169643	NM_000266.4(NDP):c.164G>A (p.Cys55Tyr)	NDP, NDP-AS1 (C55Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169642	NM_000266.4(NDP):c.173A>G (p.Lys58Arg)	NDP, NDP-AS1 (K58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138557	NM_000266.4(NDP):c.293C>G (p.Pro98Arg)	NDP, NDP-AS1 (P98R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2138556	NM_000266.4(NDP):c.335G>A (p.Gly112Glu)	NDP, NDP-AS1 (G112E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2138555	NM_000266.4(NDP):c.338G>A (p.Gly113Asp)	NDP, NDP-AS1 (G113D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2114623	NM_000266.4(NDP):c.72T>G (p.Ser24Arg)	NDP, NDP-AS1 (S24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111583	NM_000266.4(NDP):c.216G>A (p.Ala72=)	NDP-AS1, NDP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2106208	NM_000266.4(NDP):c.175-20A>G	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2068597	NM_000266.4(NDP):c.204C>T (p.His68=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2048466	NM_000266.4(NDP):c.87A>G (p.Ser29=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048002	NM_000266.4(NDP):c.174+12G>A	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030965	NM_000266.4(NDP):c.269_273dup (p.Ser92fs)	NDP, NDP-AS1 (S92fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2024089	NM_000266.4(NDP):c.276C>T (p.Ser92=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2021859	NM_000266.4(NDP):c.174+1G>A	NDP-AS1, NDP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2013719	NM_000266.4(NDP):c.339dup (p.Met114fs)	NDP, NDP-AS1 (M114fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2009980	NM_000266.4(NDP):c.384C>T (p.Cys128=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2007258	NM_000266.4(NDP):c.310A>G (p.Lys104Glu)	NDP, NDP-AS1 (K104E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1969466	NM_000266.4(NDP):c.220C>A (p.Arg74Ser)	NDP, NDP-AS1 (R74S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1950122	NM_000266.4(NDP):c.22G>T (p.Ala8Ser)	NDP, NDP-AS1 (A8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946374	NM_000266.4(NDP):c.19G>T (p.Ala7Ser)	NDP, NDP-AS1 (A7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805158	NM_000266.4(NDP):c.307C>G (p.Leu103Val)	NDP, NDP-AS1 (L103V)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 1805040	NM_000266.4(NDP):c.223_224dup (p.Glu76fs)	NDP, NDP-AS1 (E76fs)	Duplication (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 1705321	NM_000266.4(NDP):c.131_132del (p.Tyr44fs)	NDP, NDP-AS1 (Y44fs)	Deletion (frameshift variant)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 1701597	NM_000266.4(NDP):c.276_278delinsATA (p.Cys93Tyr)	NDP, NDP-AS1 (C93Y)	Indel (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1687207	NM_000266.4(NDP):c.3G>A (p.Met1Ile)	NDP, NDP-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Atrophia bulborum hereditaria +1 more	GConflicting classifications of pathogenicity
Select item 1678208	NM_000266.4(NDP):c.277T>C (p.Cys93Arg)	NDP, NDP-AS1 (C93R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1638342	NM_000266.4(NDP):c.249T>C (p.Thr83=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1633631	NM_000266.4(NDP):c.171A>T (p.Ser57=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1619398	NM_000266.4(NDP):c.18A>G (p.Leu6=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588607	NM_000266.4(NDP):c.174+14C>T	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582706	NM_000266.4(NDP):c.210C>T (p.Ser70=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1580262	NM_000266.4(NDP):c.225C>T (p.Ser75=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1548344	NM_000266.4(NDP):c.174+11G>T	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532748	NM_000266.4(NDP):c.174+19_174+20del	NDP, NDP-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1529811	NM_000266.4(NDP):c.363G>T (p.Arg121=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1528611	NM_000266.4(NDP):c.42C>T (p.Ser14=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511645	NM_000266.4(NDP):c.196G>A (p.Glu66Lys)	NDP, NDP-AS1 (E66K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1486323	NM_000266.4(NDP):c.113G>A (p.Arg38His)	NDP, NDP-AS1 (R38H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474690	NM_000266.4(NDP):c.274T>A (p.Ser92Thr)	NDP, NDP-AS1 (S92T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1473201	NM_000266.4(NDP):c.243C>G (p.Phe81Leu)	NDP, NDP-AS1 (F81L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1459580	NM_000266.4(NDP):c.288C>A (p.Cys96Ter)	NDP, NDP-AS1 (C96*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1429874	NM_000266.4(NDP):c.102G>A (p.Ser34=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1427641	NM_000266.4(NDP):c.62A>G (p.Asp21Gly)	NDP, NDP-AS1 (D21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414252	NM_000266.4(NDP):c.326G>A (p.Arg109Gln)	NDP, NDP-AS1 (R109Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1408371	NM_000266.4(NDP):c.65_66del (p.Thr22fs)	NDP, NDP-AS1 (T22fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1391741	NM_000266.4(NDP):c.44T>C (p.Leu15Pro)	NDP, NDP-AS1 (L15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373872	NM_000266.4(NDP):c.199G>A (p.Gly67Arg)	NDP, NDP-AS1 (G67R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1373871	NM_000266.4(NDP):c.200G>A (p.Gly67Glu)	NDP, NDP-AS1 (G67E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1366272	NM_000266.4(NDP):c.195C>T (p.Cys65=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1339792	NM_000266.4(NDP):c.185T>C (p.Leu62Pro)	NDP, NDP-AS1 (L62P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 1339550	NM_000266.4(NDP):c.242T>C (p.Phe81Ser)	NDP, NDP-AS1 (F81S)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 1303053	NM_000266.4(NDP):c.174G>T (p.Lys58Asn)	NDP, NDP-AS1 (K58N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299928	NM_000266.4(NDP):c.239C>T (p.Ser80Leu)	NDP, NDP-AS1 (S80L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1267592	NM_000266.4(NDP):c.175-143dup	NDP, NDP-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1262335	NM_000266.4(NDP):c.175-252del	NDP, NDP-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1234820	NM_000266.4(NDP):c.-111G>T	NDP, NDP-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1219131	NM_000266.4(NDP):c.329G>T (p.Cys110Phe)	NDP, NDP-AS1 (C110F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1218455	NM_000266.4(NDP):c.338dup (p.Met114fs)	NDP, NDP-AS1 (M114fs)	Duplication (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1213861	NM_000266.4(NDP):c.58G>T (p.Gly20Ter)	NDP-AS1, NDP (G20*)	Single nucleotide variant (nonsense)	Atrophia bulborum hereditaria	GPathogenic
Select item 1189410	NM_000266.4(NDP):c.310_318del (p.Lys104_Leu106del)	NDP, NDP-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1187206	NM_000266.4(NDP):c.175-193C>A	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186733	NM_000266.4(NDP):c.338del (p.Gly113fs)	NDP-AS1, NDP (G113fs)	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1182208	NM_000266.4(NDP):c.174+42A>G	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1172720	NM_000266.4(NDP):c.355A>C (p.Thr119Pro)	NDP, NDP-AS1 (T119P)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 1166604	NM_000266.4(NDP):c.165T>C (p.Cys55=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1138333	NM_000266.4(NDP):c.58G>A (p.Gly20Arg)	NDP, NDP-AS1 (G20R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1127523	NM_000266.4(NDP):c.174+7C>T	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1113955	NM_000266.4(NDP):c.5G>T (p.Arg2Ile)	NDP, NDP-AS1 (R2I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1109160	NM_000266.4(NDP):c.336G>A (p.Gly112=)	NDP-AS1, NDP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1103663	NM_000266.4(NDP):c.174+10A>G	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1097408	NM_000266.4(NDP):c.78G>A (p.Thr26=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1072592	NM_000266.4(NDP):c.196G>T (p.Glu66Ter)	NDP, NDP-AS1 (E66*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1045707	NM_000266.4(NDP):c.226G>A (p.Glu76Lys)	NDP, NDP-AS1 (E76K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1042715	NM_000266.4(NDP):c.84C>G (p.Ser28Arg)	NDP, NDP-AS1 (S28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042193	NM_000266.4(NDP):c.92T>A (p.Ile31Lys)	NDP, NDP-AS1 (I31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1020370	NM_000266.4(NDP):c.229C>A (p.Pro77Thr)	NDP, NDP-AS1 (P77T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018372	NM_000266.4(NDP):c.110G>A (p.Arg37Gln)	NDP, NDP-AS1 (R37Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987301	NM_000266.4(NDP):c.112C>T (p.Arg38Cys)	NDP, NDP-AS1 (R38C)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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