5375[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1338848	GRCh38/hg38 8q21.13(chr8:81061071-81682394)	FABP12, FABP4 +23 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 148749	GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3	CHMP4C, FABP12 +19 more	Copy number gain	See cases	GLikely benign
Select item 1278092	NM_002677.5(PMP2):c.*115T>C	PMP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278243	NM_002677.5(PMP2):c.*12T>C	PMP2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, demyelinating, type 1G +1 more	GBenign
Select item 1634549	NM_002677.5(PMP2):c.396C>T (p.Val132=)	PMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2891291	NM_002677.5(PMP2):c.395T>A (p.Val132Asp)	PMP2 (V132D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1479286	NM_002677.5(PMP2):c.395T>C (p.Val132Ala)	PMP2 (V132A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1637248	NM_002677.5(PMP2):c.394G>A (p.Val132Ile)	PMP2 (V132I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1468497	NM_002677.5(PMP2):c.388G>A (p.Glu130Lys)	PMP2 (E130K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1418255	NM_002677.5(PMP2):c.367G>A (p.Val123Met)	PMP2 (V123M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1432741	NM_002677.5(PMP2):c.366C>T (p.Gly122=)	PMP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 768248	NM_002677.5(PMP2):c.365G>A (p.Gly122Asp)	PMP2 (G122D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2991314	NM_002677.5(PMP2):c.353G>A (p.Cys118Tyr)	PMP2 (C118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665370	NM_002677.5(PMP2):c.351A>G (p.Glu117=)	PMP2 (M60V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2882933	NM_002677.5(PMP2):c.349-16CT[2]	PMP2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1634740	NM_002677.5(PMP2):c.349-16CT[3]	PMP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2006363	NM_002677.5(PMP2):c.349-16C>G	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267863	NM_002677.5(PMP2):c.349-30G>C	PMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1656601	NM_002677.5(PMP2):c.348+19C>G	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656602	NM_002677.5(PMP2):c.348+18T>G	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656603	NM_002677.5(PMP2):c.348+17T>A	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557306	NM_002677.5(PMP2):c.348+16C>G	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557307	NM_002677.5(PMP2):c.348+11_348+14del	PMP2	Deletion (intron variant)	not provided	GLikely benign
Select item 1926662	NM_002677.5(PMP2):c.348+12T>C	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969027	NM_002677.5(PMP2):c.348+11C>T	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656605	NM_002677.5(PMP2):c.348+10T>G	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781142	NM_002677.5(PMP2):c.348+8T>C	PMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1613761	NM_002677.5(PMP2):c.348+7G>A	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011847	NM_002677.5(PMP2):c.348+5G>C	PMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1439853	NM_002677.5(PMP2):c.348G>A (p.Ala116=)	PMP2 (G59R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444845	NM_002677.5(PMP2):c.347C>T (p.Ala116Val)	PMP2 (A116V)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1931185	NM_002677.5(PMP2):c.343G>T (p.Val115Leu)	PMP2 (G57V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037283	NM_002677.5(PMP2):c.325C>T (p.Leu109=)	PMP2 (A51V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2843285	NM_002677.5(PMP2):c.316A>G (p.Lys106Glu)	PMP2 (K106E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956159	NM_002677.5(PMP2):c.311C>A (p.Thr104Asn)	PMP2 (N46K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751920	NM_002677.5(PMP2):c.299G>C (p.Gly100Ala)	PMP2 (W42C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013585	NM_002677.5(PMP2):c.293G>A (p.Trp98Ter)	PMP2 (M40I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1350841	NM_002677.5(PMP2):c.287A>G (p.Gln96Arg)	PMP2 (Q96R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1307718	NM_002677.5(PMP2):c.284T>G (p.Val95Gly)	PMP2 (S37R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416504	NM_002677.5(PMP2):c.271T>G (p.Ser91Ala)	PMP2 (I33S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2049264	NM_002677.5(PMP2):c.268G>A (p.Gly90Arg)	PMP2 (R32K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998663	NM_002677.5(PMP2):c.259C>G (p.Leu87Val)	PMP2 (L87V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780483	NM_002677.5(PMP2):c.258C>T (p.Thr86=)	PMP2 (P29S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1411607	NM_002677.5(PMP2):c.253G>A (p.Val85Ile)	PMP2 (V85I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619091	NM_002677.5(PMP2):c.252C>T (p.Ile84=)	PMP2 (R27C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1516355	NM_002677.5(PMP2):c.252C>G (p.Ile84Met)	PMP2 (I84M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956942	NM_002677.5(PMP2):c.247-13C>T	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910204	NM_002677.5(PMP2):c.247-13C>A	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635739	NM_002677.5(PMP2):c.247-20G>T	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655731	NM_002677.5(PMP2):c.246+17C>A	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984136	NM_002677.5(PMP2):c.246+11A>C	PMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2000863	NM_002677.5(PMP2):c.246+6C>T	PMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1401090	NM_002677.5(PMP2):c.246+5T>A	PMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1897636	NM_002677.5(PMP2):c.238A>G (p.Lys80Glu)	PMP2 (K80E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2018734	NM_002677.5(PMP2):c.235dup (p.Arg79fs)	PMP2 (R79fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1998457	NM_002677.5(PMP2):c.231C>A (p.Asp77Glu)	PMP2 (D77E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1666693	NM_002677.5(PMP2):c.222C>T (p.Thr74=)	PMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2111723	NM_002677.5(PMP2):c.199C>T (p.Leu67=)	PMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2073886	NM_002677.5(PMP2):c.191_193del (p.Ser64del)	PMP2 (S64del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3013931	NM_002677.5(PMP2):c.187A>G (p.Ile63Val)	PMP2 (I63V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1240806	NM_002677.5(PMP2):c.186A>G (p.Glu62=)	PMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2081089	NM_002677.5(PMP2):c.184G>A (p.Glu62Lys)	PMP2 (E62K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1989348	NM_002677.5(PMP2):c.182C>T (p.Thr61Ile)	PMP2 (T61I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413263	NM_002677.5(PMP2):c.179A>C (p.Asn60Thr)	PMP2 (N60T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 769341	NM_002677.5(PMP2):c.179A>T (p.Asn60Ile)	PMP2 (N60I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3236607	NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)	PMP2 (S56I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GLikely pathogenic
Select item 1498601	NM_002677.5(PMP2):c.160A>C (p.Thr54Pro)	PMP2 (T54P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901735	NM_002677.5(PMP2):c.158G>A (p.Arg53Gln)	PMP2 (R53Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969087	NM_002677.5(PMP2):c.157C>G (p.Arg53Gly)	PMP2 (R53G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960583	NM_002677.5(PMP2):c.157C>T (p.Arg53Ter)	PMP2 (R53*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1333405	NM_002677.5(PMP2):c.155T>A (p.Ile52Lys)	PMP2 (I52K)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GUncertain significance
Select item 599406	NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)	PMP2 (I52T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 599407	NM_002677.5(PMP2):c.151A>C (p.Thr51Pro)	PMP2 (T51P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GPathogenic
Select item 1180711	NM_002677.5(PMP2):c.144TAT[1] (p.Ile50del)	PMP2 (I50del)	Microsatellite (inframe_deletion +1 more)	Peripheral neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 711896	NM_002677.5(PMP2):c.149T>C (p.Ile50Thr)	PMP2 (I50T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1946380	NM_002677.5(PMP2):c.146T>C (p.Ile49Thr)	PMP2 (I49T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1517129	NM_002677.5(PMP2):c.143_145del (p.Asp48_Ile49delinsVal)	PMP2	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2160762	NM_002677.5(PMP2):c.142G>A (p.Asp48Asn)	PMP2 (D48N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2851143	NM_002677.5(PMP2):c.137A>C (p.Lys46Thr)	PMP2 (K46T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2495606	NM_002677.5(PMP2):c.135G>T (p.Lys45Asn)	PMP2 (K45N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1592353	NM_002677.5(PMP2):c.135G>A (p.Lys45=)	PMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1593682	NM_002677.5(PMP2):c.130A>C (p.Ser44Arg)	PMP2 (S44R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2573196	NM_002677.5(PMP2):c.128T>G (p.Ile43Ser)	PMP2 (I43S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, demyelinating, type 1G	GLikely pathogenic
Select item 243087	NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)	PMP2 (I43N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2906993	NM_002677.5(PMP2):c.117C>T (p.Pro39=)	PMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 2