ClinVar for Gene (Select 4693) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351324	NM_000266.3(NDP):c.-370T>G	NDP	Single nucleotide variant	NDP-related disorder	GLikely benign
Select item 3345827	NM_000266.4(NDP):c.79G>T (p.Asp27Tyr)	NDP, NDP-AS1 (D27Y)	Single nucleotide variant (missense variant)	NDP-related disorder	GUncertain significance
Select item 3339153	NM_000266.4(NDP):c.124C>T (p.His42Tyr)	NDP, NDP-AS1 (H42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338823	NM_000266.4(NDP):c.174+1G>C	NDP, NDP-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3257312	NM_000266.4(NDP):c.26C>T (p.Ser9Phe)	NDP, NDP-AS1 (S9F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242164	NM_000266.4(NDP):c.181C>A (p.Leu61Ile)	NDP, NDP-AS1 (L61I)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 3237510	NM_000266.4(NDP):c.199G>T (p.Gly67Trp)	NDP, NDP-AS1 (G67W)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 2, X-linked	GPathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3059887	NM_000266.3(NDP):c.-381_-380CT[5]	NDP	Microsatellite	NDP-related disorder	GLikely benign
Select item 3059872	NM_000266.3(NDP):c.-407_-406CT[5]	NDP	Microsatellite	NDP-related disorder	GLikely benign
Select item 3048076	NM_000266.3(NDP):c.-348G>C	NDP	Single nucleotide variant	NDP-related disorder	GLikely benign
Select item 3034455	NM_000266.4(NDP):c.-208G>C	NDP	Single nucleotide variant (5 prime UTR variant)	NDP-related disorder	GUncertain significance
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 2685744	GRCh37/hg19 Xp11.3(chrX:43678042-43809550)x2	MAOB, NDP	Copy number gain	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685063	GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0	CHST7, DIPK2B +12 more	Copy number loss	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 2660361	NM_000266.3(NDP):c.-405_-394CTCTCTCTCTCC[3]	NDP	Microsatellite	not provided	GLikely benign
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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2426670	NC_000023.10:g.(?_43515590)_(44970656_?)del	DUSP21, EFHC2 +5 more	Deletion	Kabuki syndrome 2	GPathogenic
Select item 2422624	NC_000023.10:g.(?_43515590)_(43817891_?)del	MAOA, MAOB +1 more	Deletion	not provided	GPathogenic
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-AS1, NDP (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, NDP-AS1	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, NDP-AS1	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 1808692	GRCh37/hg19 Xp11.4-11.3(chrX:41350855-44616591)x0	CASK, EFHC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1807922	GRCh37/hg19 Xp11.3(chrX:43615734-44011605)x2	EFHC2, MAOB +1 more	Copy number gain	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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	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 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1473201	NM_000266.4(NDP):c.243C>G (p.Phe81Leu)	NDP, NDP-AS1 (F81L)	Single nucleotide variant (non-coding transcript 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)	not provided +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)	not provided +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

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