64419[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 318

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 150505	GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3	ARPC4, ARPC4-TTLL3 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57199	GRCh38/hg38 3p25.3(chr3:9221810-9727021)x3	CPNE9, LHFPL4 +19 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 2875111	NM_001077525.3(MTMR14):c.6C>T (p.Ala2=)	MTMR14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2259744	NM_001077525.3(MTMR14):c.10G>A (p.Ala4Thr)	MTMR14 (A4T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2956309	NM_001077525.3(MTMR14):c.23C>T (p.Ala8Val)	MTMR14 (A8V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2784910	NM_001077525.3(MTMR14):c.28_33del (p.Ala10_Ala11del)	MTMR14	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1663141	NM_001077525.3(MTMR14):c.27C>T (p.Ala9=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725318	NM_001077525.3(MTMR14):c.30T>G (p.Ala10=)	MTMR14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2967744	NM_001077525.3(MTMR14):c.39_50del (p.Gly14_Ala17del)	MTMR14	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1476576	NM_001077525.3(MTMR14):c.39G>A (p.Ala13=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989431	NM_001077525.3(MTMR14):c.41G>A (p.Gly14Glu)	MTMR14 (G14E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2046686	NM_001077525.3(MTMR14):c.48G>A (p.Ser16=)	MTMR14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2724635	NM_001077525.3(MTMR14):c.54T>C (p.Ser18=)	MTMR14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2471462	NM_001077525.3(MTMR14):c.58G>T (p.Gly20Cys)	MTMR14 (G20C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 703240	NM_001077525.3(MTMR14):c.66G>A (p.Gln22=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2052272	NM_001077525.3(MTMR14):c.74A>G (p.Gln25Arg)	MTMR14 (Q25R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2689455	NM_001077525.3(MTMR14):c.83_100dup (p.Leu33_Glu34insGlyLeuGlyGluLeuLeu)	MTMR14	Duplication (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2689459	NM_001077525.3(MTMR14):c.83G>A (p.Gly28Glu)	MTMR14 (G28E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3233708	NM_001077525.3(MTMR14):c.85C>G (p.Leu29Val)	MTMR14 (L29V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2719992	NM_001077525.3(MTMR14):c.86T>C (p.Leu29Pro)	MTMR14 (L29P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2052674	NM_001077525.3(MTMR14):c.92A>T (p.Glu31Val)	MTMR14 (E31V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1929756	NM_001077525.3(MTMR14):c.97C>T (p.Leu33=)	MTMR14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2005186	NM_001077525.3(MTMR14):c.100GAG[1] (p.Glu35del)	MTMR14 (E35del)	Microsatellite (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2233237	NM_001077525.3(MTMR14):c.100G>C (p.Glu34Gln)	MTMR14 (E34Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1497092	NM_001077525.3(MTMR14):c.110C>T (p.Ser37Phe)	MTMR14 (S37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296258	NM_001077525.3(MTMR14):c.132G>T (p.Lys44Asn)	MTMR14 (K44N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2974729	NM_001077525.3(MTMR14):c.133G>T (p.Asp45Tyr)	MTMR14 (D45Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2166270	NM_001077525.3(MTMR14):c.142G>A (p.Gly48Arg)	MTMR14 (G48R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2831150	NM_001077525.3(MTMR14):c.151G>T (p.Gly51Cys)	MTMR14 (G51C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1615237	NM_001077525.3(MTMR14):c.160-14C>T	MTMR14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025168	NM_001077525.3(MTMR14):c.165G>A (p.Glu55=)	MTMR14	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2037215	NM_001077525.3(MTMR14):c.166C>G (p.Arg56Gly)	MTMR14 (R56G +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2720325	NM_001077525.3(MTMR14):c.167G>A (p.Arg56His)	MTMR14 (R56H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2177321	NM_001077525.3(MTMR14):c.171T>C (p.Ile57=)	MTMR14	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1908823	NM_001077525.3(MTMR14):c.183T>C (p.Cys61=)	MTMR14	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 500920	NM_001077525.3(MTMR14):c.187G>T (p.Glu63Ter)	MTMR14 (E63*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1570674	NM_001077525.3(MTMR14):c.198C>T (p.Gly66=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028507	NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)	MTMR14 (R67*)	Single nucleotide variant (nonsense)	Autosomal dominant centronuclear myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2689457	NM_001077525.3(MTMR14):c.200G>A (p.Arg67Gln)	MTMR14 (R67Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2120711	NM_001077525.3(MTMR14):c.203A>G (p.Asp68Gly)	MTMR14 (D68G +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2037615	NM_001077525.3(MTMR14):c.208T>C (p.Cys70Arg)	MTMR14 (C70R +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1978341	NM_001077525.3(MTMR14):c.211_218del (p.Phe71fs)	MTMR14 (F94fs +1 more)	Deletion (frameshift variant +3 more)	not provided	GUncertain significance
Select item 2708501	NM_001077525.3(MTMR14):c.214A>C (p.Ser72Arg)	MTMR14 (S95R +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2328632	NM_001077525.3(MTMR14):c.217G>A (p.Val73Met)	MTMR14 (V73M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2689463	NM_001077525.3(MTMR14):c.241A>C (p.Ile81Leu)	MTMR14 (I104L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2689466	NM_001077525.3(MTMR14):c.250C>T (p.His84Tyr)	MTMR14 (H107Y +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 809414	NM_001077525.3(MTMR14):c.256C>T (p.Pro86Ser)	MTMR14 (P86S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1363202	NM_001077525.3(MTMR14):c.260G>A (p.Arg87Gln)	MTMR14 (R87Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2024506	NM_001077525.3(MTMR14):c.279G>T (p.Glu93Asp)	MTMR14 (E116D +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2854324	NM_001077525.3(MTMR14):c.306C>T (p.Asp102=)	MTMR14	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 2689456	NM_001077525.3(MTMR14):c.308+1G>A	MTMR14	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2911716	NM_001077525.3(MTMR14):c.308+17C>G	MTMR14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1387583	NM_001077525.3(MTMR14):c.308+17C>T	MTMR14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083274	NM_001077525.3(MTMR14):c.308+18G>A	MTMR14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 2032164	NM_001077525.3(MTMR14):c.309-9G>A	MTMR14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631406	NM_001077525.3(MTMR14):c.321C>T (p.Thr107=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080109	NM_001077525.3(MTMR14):c.322G>A (p.Val108Ile)	MTMR14 (V108I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1621881	NM_001077525.3(MTMR14):c.337T>C (p.Leu113=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174400	NM_001077525.3(MTMR14):c.348C>T (p.Leu116=)	MTMR14	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2058658	NM_001077525.3(MTMR14):c.360C>G (p.Ser120Arg)	MTMR14 (S120R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2721440	NM_001077525.3(MTMR14):c.370C>A (p.Arg124=)	MTMR14	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1355058	NM_001077525.3(MTMR14):c.370C>T (p.Arg124Trp)	MTMR14 (R124W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714058	NM_001077525.3(MTMR14):c.371G>A (p.Arg124Gln)	MTMR14 (R124Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1406589	NM_001077525.3(MTMR14):c.409A>G (p.Lys137Glu)	MTMR14 (K137E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3216090	NM_001077525.3(MTMR14):c.410A>C (p.Lys137Thr)	MTMR14 (K137T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1376465	NM_001077525.3(MTMR14):c.417+1del	MTMR14	Deletion (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1620641	NM_001077525.3(MTMR14):c.418-15A>G	MTMR14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1984563	NM_001077525.3(MTMR14):c.418-5C>T	MTMR14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2065448	NM_001077525.3(MTMR14):c.418-3C>A	MTMR14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2892029	NM_001077525.3(MTMR14):c.431C>T (p.Ser144Leu)	MTMR14 (S167L +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2543519	NM_001077525.3(MTMR14):c.440T>C (p.Leu147Pro)	MTMR14 (L147P +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1368270	NM_001077525.3(MTMR14):c.447A>T (p.Gly149=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2238224	NM_001077525.3(MTMR14):c.456G>T (p.Glu152Asp)	MTMR14 (E175D +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 594605	NM_001077525.3(MTMR14):c.480C>T (p.Asn160=)	MTMR14	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2874393	NM_001077525.3(MTMR14):c.482A>G (p.Tyr161Cys)	MTMR14 (Y67C +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1388022	NM_001077525.3(MTMR14):c.482A>C (p.Tyr161Ser)	MTMR14 (Y161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369884	NM_001077525.3(MTMR14):c.488dup (p.Ser164fs)	MTMR14 (S164fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1564736	NM_001077525.3(MTMR14):c.493+13C>T	MTMR14	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4