51002[geneid] - ClinVar

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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 specified +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

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Items: 57