79583[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 60022	GRCh38/hg38 16q23.1(chr16:75485676-75603079)x3	ADAT1, CHST5 +22 more	Copy number gain	See cases	GUncertain significance
Select item 151641	GRCh38/hg38 16q23.1(chr16:75517632-75541502)x3	CHST5, LOC130059437 +1 more	Copy number gain	See cases	GLikely benign
Select item 151640	GRCh38/hg38 16q23.1(chr16:75517632-75541502)x4	CHST5, LOC130059437 +1 more	Copy number gain	See cases	GLikely benign
Select item 157371	NM_001077418.3(TMEM231):c.310-1133_*2643dup	TMEM231	Duplication (splice acceptor variant +1 more)	Normal pregnancy	Gnot provided
Select item 1247731	NM_001077418.3(TMEM231):c.*139G>A	TMEM231	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1296183	NM_001077418.3(TMEM231):c.*138C>T	TMEM231	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 473320	NC_000016.9:g.(?_75573872)_(75579413_?)dup	TMEM231	Duplication	Joubert syndrome 20 +1 more	GLikely benign
Select item 473319	NC_000016.10:g.(?_75539974)_(75545515_?)del	TMEM231	Deletion	Joubert syndrome 20 +1 more	GPathogenic
Select item 473318	Single allele	TMEM231	Duplication	Joubert syndrome 20 +1 more	GUncertain significance
Select item 257328	NM_001077418.3(TMEM231):c.*8A>G	TMEM231	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1696163	NM_001077418.3(TMEM231):c.944T>G (p.Leu315Ter)	TMEM231 (L315* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2925183	NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2067472	NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2315275	NM_001077418.3(TMEM231):c.932G>T (p.Cys311Phe)	TMEM231 (C311F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261486	NM_001077418.3(TMEM231):c.931T>G (p.Cys311Gly)	TMEM231 (C311G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1157065	NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 786834	NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val)	TMEM231 (L310V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +2 more	GLikely benign
Select item 473321	NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)	TMEM231	Inversion (missense variant +1 more)	Meckel syndrome, type 11 +3 more	GConflicting classifications of pathogenicity
Select item 1920639	NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 786835	NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu)	TMEM231 (D309E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 2042387	NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)	TMEM231 (D309V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2130345	NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)	TMEM231 (G361* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 1391864	NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)	TMEM231 (R307Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1399815	NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)	TMEM231 (R307W +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 1148277	NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 3026875	NM_001077418.3(TMEM231):c.909A>C (p.Thr303=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2166575	NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)	TMEM231 (V355M +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 516202	NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +2 more	GBenign/Likely benign
Select item 1488753	NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr)	TMEM231 (I300T +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 1435796	NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)	TMEM231 (I300V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +2 more	GUncertain significance
Select item 212404	NM_001077418.3(TMEM231):c.891G>A (p.Val297=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1933878	NM_001077418.3(TMEM231):c.888G>A (p.Val296=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1423299	NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu)	TMEM231 (Q295E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2437110	NM_001077418.3(TMEM231):c.878A>C (p.Gln293Pro)	TMEM231 (Q293P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180516	NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)	TMEM231 (V291L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1479061	NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)	TMEM231 (V291M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 741715	NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2570144	NM_001077418.3(TMEM231):c.865A>T (p.Ile289Phe)	TMEM231 (I289F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2042720	NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)	TMEM231 (I289V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 2138227	NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)	TMEM231 (I287M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2170892	NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 939661	NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1936694	NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)	TMEM231 (L281F +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1514731	NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)	TMEM231 (S328T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2145398	NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)	TMEM231 (S275G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2019521	NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2066845	NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)	TMEM231 (Y273F +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 64620	NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)	TMEM231 (Q325P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 130591	NM_001077418.3(TMEM231):c.813G>A (p.Val271=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1303429	NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)	TMEM231 (A269T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +3 more	GUncertain significance
Select item 501272	NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 540546	NM_001077418.3(TMEM231):c.798A>G (p.Val266=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2041174	NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)	TMEM231 (M265V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 1597535	NM_001077418.3(TMEM231):c.792G>A (p.Glu264=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 286672	NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)	TMEM231 (E317A +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +3 more	GUncertain significance
Select item 208785	NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)	TMEM231 (E317K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1062223	NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)	TMEM231 (F262L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1617922	NM_001077418.3(TMEM231):c.780A>G (p.Pro260=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2153810	NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)	TMEM231 (Q312H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 939662	NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)	TMEM231 (Q259H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1994674	NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)	TMEM231 (Y311* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1028505	NM_001077418.3(TMEM231):c.771-5_771-2delinsTGTC	TMEM231	Indel (splice acceptor variant)	Meckel syndrome, type 11	GUncertain significance
Select item 2076425	NM_001077418.3(TMEM231):c.771-4A>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 750444	NM_001077418.3(TMEM231):c.771-4A>C	TMEM231	Single nucleotide variant (intron variant)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 1665494	NM_001077418.3(TMEM231):c.771-6C>A	TMEM231	Single nucleotide variant (intron variant)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2000685	NM_001077418.3(TMEM231):c.771-17T>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1180348	NM_001077418.3(TMEM231):c.770+304G>T	TMEM231	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295985	NM_001077418.3(TMEM231):c.770+151dup	TMEM231	Duplication (intron variant)	not provided	GBenign
Select item 1217840	NM_001077418.3(TMEM231):c.770+151_770+152dup	TMEM231	Duplication (intron variant)	not provided	GLikely benign
Select item 1293170	NM_001077418.3(TMEM231):c.770+168_770+169del	TMEM231	Deletion (intron variant)	not provided	GBenign
Select item 1235036	NM_001077418.3(TMEM231):c.770+169del	TMEM231	Deletion (intron variant)	not provided	GBenign
Select item 2142847	NM_001077418.3(TMEM231):c.770+20G>A	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1563628	NM_001077418.3(TMEM231):c.770+18G>T	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1980418	NM_001077418.3(TMEM231):c.770+6C>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 1045110	NM_001077418.3(TMEM231):c.770+3A>G	TMEM231	Single nucleotide variant (intron variant)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 1378034	NM_001077418.3(TMEM231):c.759G>A (p.Val253=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1498385	NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu)	TMEM231 (P252L +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 649504	NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)	TMEM231 (P252A +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 1908648	NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)	TMEM231 (R250P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 499740	NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)	TMEM231 (R303Q +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +3 more	GConflicting classifications of pathogenicity
Select item 2288244	NM_001077418.3(TMEM231):c.748C>T (p.Arg250Ter)	TMEM231 (R250* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2122983	NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1307805	NM_001077418.3(TMEM231):c.743T>C (p.Ile248Thr)	TMEM231 (I248T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136203	NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)	TMEM231 (N246D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 285611	NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)	TMEM231 (F296L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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