NDRG1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 155462	GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3	CCN4, LINC03024 +39 more	Copy number gain	See cases	GUncertain significance
Select item 362007	NM_006096.3(NDRG1):c.*1706G>A	NDRG1	Single nucleotide variant	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362008	NM_006096.4(NDRG1):c.*1622T>G	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GLikely benign
Select item 909267	NM_006096.4(NDRG1):c.*1621C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362009	NM_006096.4(NDRG1):c.*1473G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GLikely benign
Select item 909268	NM_006096.4(NDRG1):c.*1361C>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362010	NM_006096.4(NDRG1):c.*1340G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909269	NM_006096.4(NDRG1):c.*1339C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909270	NM_006096.4(NDRG1):c.*1300G>C	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909271	NM_006096.4(NDRG1):c.*1299C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362011	NM_006096.4(NDRG1):c.*1296C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362012	NM_006096.4(NDRG1):c.*1294T>C	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GBenign
Select item 362013	NM_006096.4(NDRG1):c.*1195G>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 911264	NM_006096.4(NDRG1):c.*1179G>C	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362014	NM_006096.4(NDRG1):c.*1135G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GBenign
Select item 362015	NM_006096.4(NDRG1):c.*956T>C	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GBenign
Select item 362016	NM_006096.4(NDRG1):c.*866A>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GBenign
Select item 911462	NM_006096.4(NDRG1):c.*854G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362017	NM_006096.4(NDRG1):c.*834T>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GBenign
Select item 911463	NM_006096.4(NDRG1):c.*791C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362018	NM_006096.4(NDRG1):c.*711C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GBenign
Select item 362019	NM_006096.4(NDRG1):c.*691G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GBenign
Select item 362020	NM_006096.4(NDRG1):c.*677C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362021	NM_006096.4(NDRG1):c.*653T>C	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GLikely benign
Select item 362022	NM_006096.4(NDRG1):c.*618T>G	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908488	NM_006096.4(NDRG1):c.*525G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908489	NM_006096.4(NDRG1):c.*403G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362023	NM_006096.4(NDRG1):c.*402C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908490	NM_006096.4(NDRG1):c.*392G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 908491	NM_006096.4(NDRG1):c.*377G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GLikely benign
Select item 908492	NM_006096.4(NDRG1):c.*308C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362024	NM_006096.4(NDRG1):c.*306C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362025	NM_006096.4(NDRG1):c.*264C>G	NDRG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 909340	NM_006096.4(NDRG1):c.*228G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362026	NM_006096.4(NDRG1):c.*201A>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362027	NM_006096.4(NDRG1):c.*184G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362028	NM_006096.4(NDRG1):c.*100G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 909341	NM_006096.4(NDRG1):c.*91G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 362029	NM_006096.4(NDRG1):c.*69C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 909342	NM_006096.4(NDRG1):c.*48C>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 909343	NM_006096.4(NDRG1):c.*31T>G	NDRG1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4D	GUncertain significance
Select item 1205520	NM_006096.4(NDRG1):c.*25G>A	NDRG1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 379727	NM_006096.4(NDRG1):c.*18C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 389857	NM_006096.4(NDRG1):c.*2C>T	NDRG1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 944773	NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)	NDRG1 (S327del +3 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1161511	NM_006096.4(NDRG1):c.1179C>T (p.Ser393=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1127906	NM_006096.4(NDRG1):c.1176C>G (p.Val392=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2838646	NM_006096.4(NDRG1):c.1173G>A (p.Glu391=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1017400	NM_006096.4(NDRG1):c.1171G>A (p.Glu391Lys)	NDRG1 (E310K +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2023369	NM_006096.4(NDRG1):c.1167C>G (p.Ser389=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 707180	NM_006096.4(NDRG1):c.1167C>T (p.Ser389=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2726693	NM_006096.4(NDRG1):c.1164G>A (p.Lys388=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2318122	NM_006096.4(NDRG1):c.1162A>C (p.Lys388Gln)	NDRG1 (K307Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2698663	NM_006096.4(NDRG1):c.1161C>G (p.Pro387=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1972724	NM_006096.4(NDRG1):c.1161C>A (p.Pro387=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 967473	NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)	NDRG1 (G386R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1137076	NM_006096.4(NDRG1):c.1155C>G (p.Ala385=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 516372	NM_006096.4(NDRG1):c.1155C>T (p.Ala385=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4D +3 more	GConflicting classifications of pathogenicity
Select item 655683	NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr)	NDRG1 (A385T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215862	NM_006096.4(NDRG1):c.1152C>T (p.Ser384=)	NDRG1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1984357	NM_006096.4(NDRG1):c.1151G>A (p.Ser384Asn)	NDRG1 (S401N +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1733923	NM_006096.4(NDRG1):c.1150A>C (p.Ser384Arg)	NDRG1 (S318R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1113440	NM_006096.4(NDRG1):c.1146G>A (p.Gly382=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2156191	NM_006096.4(NDRG1):c.1144G>A (p.Gly382Arg)	NDRG1 (G382R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1574505	NM_006096.4(NDRG1):c.1140T>C (p.Ala380=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1396235	NM_006096.4(NDRG1):c.1136G>A (p.Gly379Asp)	NDRG1 (G379D +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 639526	NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 1020426	NM_006096.4(NDRG1):c.1133C>T (p.Ser378Leu)	NDRG1 (S297L +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1985743	NM_006096.4(NDRG1):c.1132T>C (p.Ser378Pro)	NDRG1 (S297P +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1115459	NM_006096.4(NDRG1):c.1125C>T (p.Thr375=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1798135	NM_006096.4(NDRG1):c.1122C>G (p.Ile374Met)	NDRG1 (I308M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2108850	NM_006096.4(NDRG1):c.1116G>T (p.Leu372=)	NDRG1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 476845	NM_006096.4(NDRG1):c.1112_1114delinsTTT (p.His371Leu)	NDRG1 (H305L +3 more)	Indel (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1795470	NM_006096.4(NDRG1):c.1112A>T (p.His371Leu)	NDRG1 (H305L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 543428	NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val)	NDRG1 (A370V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 543418	NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly)	NDRG1 (A370G +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4D +2 more	GUncertain significance

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