51002[geneid] - ClinVar

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

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1289042	NC_000002.12:g.73729754T>C	TPRKB	Single nucleotide variant	not provided	GBenign
Select item 1242937	NC_000002.12:g.73729829del	TPRKB	Deletion	not provided	GBenign
Select item 1929071	NM_016058.5(TPRKB):c.483A>T (p.Leu161Phe)	TPRKB (L200F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253010	NM_016058.5(TPRKB):c.474T>C (p.Ile158=)	TPRKB	Single nucleotide variant (synonymous variant)	Galloway-Mowat syndrome 5 +1 more	GBenign
Select item 2014302	NM_016058.5(TPRKB):c.463G>A (p.Glu155Lys)	TPRKB (E137K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334835	NM_016058.5(TPRKB):c.455_456del (p.Ser152fs)	TPRKB (S134fs +3 more)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 3048816	NM_016058.5(TPRKB):c.453C>T (p.Leu151=)	TPRKB	Single nucleotide variant (synonymous variant)	TPRKB-related disorder	GLikely benign
Select item 2313306	NM_016058.5(TPRKB):c.452T>C (p.Leu151Pro)	TPRKB (L133P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2792633	NM_016058.5(TPRKB):c.447_448dup (p.Lys150fs)	TPRKB (K132fs +3 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 444885	NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys)	TPRKB (Y149C +3 more)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 5	GPathogenic
Select item 3065453	NM_016058.5(TPRKB):c.445T>A (p.Tyr149Asn)	TPRKB (Y116N +3 more)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 5	GLikely pathogenic
Select item 1290163	NM_016058.5(TPRKB):c.442-71A>T	TPRKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2577124	NM_016058.5(TPRKB):c.420_423del (p.Met140fs)	TPRKB (M107fs +3 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 444884	NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro)	TPRKB (L136P +3 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2295920	NM_016058.5(TPRKB):c.406C>G (p.Leu136Val)	TPRKB (L118V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1941448	NM_016058.5(TPRKB):c.405T>C (p.Asn135=)	TPRKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764552	NM_016058.5(TPRKB):c.390G>A (p.Gln130=)	TPRKB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3181612	NM_016058.5(TPRKB):c.373C>G (p.Gln125Glu)	TPRKB (Q125E +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2185129	NM_016058.5(TPRKB):c.369A>G (p.Ile123Met)	TPRKB (I90M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911965	NM_016058.5(TPRKB):c.346_349del (p.Lys115_Gln116insTer)	TPRKB	Deletion (nonsense)	not provided	GUncertain significance
Select item 1902125	NM_016058.5(TPRKB):c.328A>G (p.Ile110Val)	TPRKB (I92V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3046296	NM_016058.5(TPRKB):c.327C>T (p.Tyr109=)	TPRKB	Single nucleotide variant (synonymous variant)	TPRKB-related disorder	GLikely benign
Select item 2473192	NM_016058.5(TPRKB):c.322G>C (p.Val108Leu)	TPRKB (V108L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2888898	NM_016058.5(TPRKB):c.286T>A (p.Phe96Ile)	TPRKB (F135I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047998	NM_016058.5(TPRKB):c.277T>C (p.Leu93=)	TPRKB	Single nucleotide variant (synonymous variant)	TPRKB-related disorder	GLikely benign
Select item 2232151	NM_016058.5(TPRKB):c.274G>A (p.Ala92Thr)	TPRKB (A59T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1553120	NM_016058.5(TPRKB):c.265-8del	TPRKB	Deletion (intron variant)	not provided	GBenign
Select item 1987012	NM_016058.5(TPRKB):c.265-18dup	TPRKB	Duplication (intron variant)	not provided	GBenign
Select item 1973923	NM_016058.5(TPRKB):c.260_263dup (p.Asn88fs)	TPRKB (N70fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2759125	NM_016058.5(TPRKB):c.245A>G (p.Asn82Ser)	TPRKB (N64S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3181611	NM_016058.5(TPRKB):c.182C>G (p.Ala61Gly)	TPRKB (A43G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333645	NM_016058.5(TPRKB):c.160A>G (p.Ile54Val)	TPRKB (I36V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633614	NM_016058.5(TPRKB):c.148G>T (p.Asp50Tyr)	TPRKB (D17Y +3 more)	Single nucleotide variant (missense variant)	TPRKB-related disorder	GUncertain significance
Select item 2064481	NM_016058.5(TPRKB):c.145G>A (p.Val49Ile)	TPRKB (V31I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1328048	NM_016058.5(TPRKB):c.142-423dup	TPRKB	Duplication (intron variant)	not specified	GBenign
Select item 2188661	NM_016058.5(TPRKB):c.136A>G (p.Thr46Ala)	TPRKB (T46A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2889385	NM_016058.5(TPRKB):c.123A>C (p.Ser41=)	TPRKB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1334895	NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del)	TPRKB (R31del)	Microsatellite (inframe_deletion +2 more)	Galloway-Mowat syndrome 5	GUncertain significance
Select item 2068884	NM_016058.5(TPRKB):c.77C>T (p.Ala26Val)	TPRKB (A26V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2072969	NM_016058.5(TPRKB):c.41G>C (p.Arg14Thr)	TPRKB (R14T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1971909	NM_016058.5(TPRKB):c.15T>G (p.His5Gln)	TPRKB (H5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2319641	NM_016058.5(TPRKB):c.6G>C (p.Gln2His)	TPRKB (Q2H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049784	NM_016058.5(TPRKB):c.-9_-7dup	TPRKB	Duplication (5 prime UTR variant)	TPRKB-related disorder	GLikely benign
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526818	GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941)	ALMS1, C2orf78 +8 more	Copy number loss	not specified	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57