ClinVar for Gene (Select 112858) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181455	NM_033550.4(TP53RK):c.317A>G (p.Tyr106Cys)	TP53RK (Y106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047675	NM_033550.4(TP53RK):c.558G>C (p.Leu186=)	TP53RK	Single nucleotide variant (synonymous variant)	TP53RK-related disorder	GLikely benign
Select item 3044197	NM_033550.4(TP53RK):c.81G>A (p.Glu27=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	TP53RK-related disorder	GLikely benign
Select item 3027373	NM_033550.4(TP53RK):c.411_430dup (p.Lys144delinsArgValSerProThrTer)	TP53RK	Duplication (nonsense)	not provided	GUncertain significance
Select item 3009498	NM_033550.4(TP53RK):c.30C>T (p.Ala10=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004714	NM_033550.4(TP53RK):c.243G>A (p.Thr81=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986974	NM_033550.4(TP53RK):c.297A>G (p.Pro99=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892704	NM_033550.4(TP53RK):c.42G>A (p.Glu14=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2887807	NM_033550.4(TP53RK):c.166G>C (p.Ala56Pro)	TP53RK (A56P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2882280	NM_033550.4(TP53RK):c.45C>T (p.Pro15=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881776	NM_033550.4(TP53RK):c.603T>C (p.Tyr201=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628379	NM_033550.4(TP53RK):c.335_338del (p.Tyr112fs)	TP53RK (Y112fs)	Microsatellite (frameshift variant)	TP53RK-related disorder	GUncertain significance
Select item 2427138	NC_000020.10:g.(?_45279930)_(45358147_?)dup	SLC13A3, SLC2A10 +1 more	Duplication	not provided	GUncertain significance
Select item 2242556	NM_033550.4(TP53RK):c.583G>A (p.Asp195Asn)	TP53RK (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198651	NM_033550.4(TP53RK):c.277C>T (p.Arg93Cys)	TP53RK (R93C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193242	NM_033550.4(TP53RK):c.317A>C (p.Tyr106Ser)	TP53RK (Y106S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2182259	NM_033550.4(TP53RK):c.479A>G (p.His160Arg)	TP53RK (H160R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161417	NM_033550.4(TP53RK):c.277C>G (p.Arg93Gly)	TP53RK (R93G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121503	NM_033550.4(TP53RK):c.758G>T (p.Gly253Val)	TP53RK (G253V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096717	NM_033550.4(TP53RK):c.454C>T (p.Arg152Ter)	TP53RK (R152*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2081583	NM_033550.4(TP53RK):c.358G>A (p.Val120Met)	TP53RK (V120M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075062	NM_033550.4(TP53RK):c.163C>T (p.Arg55Cys)	TP53RK (R55C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074378	NM_033550.4(TP53RK):c.270C>T (p.Arg90=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059862	NM_033550.4(TP53RK):c.33T>G (p.Asp11Glu)	LOC130065998, TP53RK +1 more (D11E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019940	NM_033550.4(TP53RK):c.579A>G (p.Pro193=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015419	NM_033550.4(TP53RK):c.284-8G>A	TP53RK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994807	NM_033550.4(TP53RK):c.49C>T (p.Pro17Ser)	LOC130065998, TP53RK +1 more (P17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967741	NM_033550.4(TP53RK):c.755T>C (p.Val252Ala)	TP53RK (V252A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966795	NM_033550.4(TP53RK):c.461_462delinsCT (p.His154Pro)	TP53RK (H154P)	Indel (missense variant)	not provided	GUncertain significance
Select item 1966648	NM_033550.4(TP53RK):c.274C>T (p.Arg92Cys)	TP53RK (R92C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953062	NM_033550.4(TP53RK):c.19A>G (p.Thr7Ala)	LOC130065998, TP53RK +1 more (T7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952929	NM_033550.4(TP53RK):c.258G>T (p.Arg86=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950427	NM_033550.4(TP53RK):c.629C>T (p.Thr210Ile)	TP53RK (T210I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946253	NM_033550.4(TP53RK):c.689A>C (p.Lys230Thr)	TP53RK (K230T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922102	NM_033550.4(TP53RK):c.11C>T (p.Ala4Val)	LOC130065998, TP53RK +1 more (A4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917858	NM_033550.4(TP53RK):c.125G>T (p.Gly42Val)	TP53RK (G42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909417	NM_033550.4(TP53RK):c.284-16del	TP53RK	Deletion (intron variant)	not provided	GLikely benign
Select item 1909157	NM_033550.4(TP53RK):c.728G>A (p.Arg243His)	TP53RK (R243H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1905215	NM_033550.4(TP53RK):c.36C>T (p.Gly12=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900794	NM_033550.4(TP53RK):c.76C>A (p.Arg26=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897600	NM_033550.4(TP53RK):c.640A>C (p.Thr214Pro)	TP53RK (T214P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806243	NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)	TP53RK (A206P)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1804894	NM_033550.4(TP53RK):c.185G>A (p.Arg62His)	TP53RK (R62H)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1676441	NM_033550.4(TP53RK):c.309dup (p.Val104fs)	TP53RK (V104fs)	Duplication	Galloway-Mowat syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 1266969	NM_033550.4(TP53RK):c.283+85G>C	LOC130065997, TP53RK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261671	NM_033550.4(TP53RK):c.385A>G (p.Thr129Ala)	TP53RK (T129A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245432	NM_033550.4(TP53RK):c.368G>A (p.Arg123Gln)	TP53RK (R123Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1230926	NM_033550.4(TP53RK):c.12C>T (p.Ala4=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1229947	NM_033550.4(TP53RK):c.-16G>C	LOC130065998, TP53RK +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1229334	NM_033550.4(TP53RK):c.*46G>A	TP53RK	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1210333	NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln)	TP53RK (K65Q)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GLikely pathogenic
Select item 1032343	NM_033550.4(TP53RK):c.544A>G (p.Ile182Val)	TP53RK (I182V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1032341	NM_033550.4(TP53RK):c.337A>G (p.Met113Val)	TP53RK (M113V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 1029039	NM_033550.4(TP53RK):c.598C>G (p.Leu200Val)	TP53RK (L200V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 813579	NM_033550.4(TP53RK):c.15_16dup (p.Ala6fs)	LOC130065998, TP53RK +1 more (A6fs)	Microsatellite (frameshift variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 812788	NM_033550.4(TP53RK):c.128C>T (p.Ala43Val)	TP53RK (A43V)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 812787	NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	TP53RK (R243C)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 798641	NM_033550.4(TP53RK):c.618C>G (p.Ala206=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783076	NM_033550.4(TP53RK):c.519C>G (p.Pro173=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 777579	NM_033550.4(TP53RK):c.404C>T (p.Thr135Ile)	TP53RK (T135I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 764238	NM_033550.4(TP53RK):c.759G>A (p.Gly253=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753352	NM_033550.4(TP53RK):c.84G>A (p.Arg28=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748761	NM_033550.4(TP53RK):c.462C>T (p.His154=)	TP53RK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726027	NM_033550.4(TP53RK):c.433A>G (p.Thr145Ala)	TP53RK (T145A)	Single nucleotide variant (missense variant)	TP53RK-related disorder +2 more	GBenign/Likely benign
Select item 717598	NM_033550.4(TP53RK):c.23C>T (p.Thr8Met)	LOC130065998, TP53RK +1 more (T8M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 711244	NM_033550.4(TP53RK):c.172G>T (p.Val58Leu)	TP53RK (V58L)	Single nucleotide variant (missense variant)	TP53RK-related disorder +1 more	GLikely benign
Select item 624197	NM_033550.4(TP53RK):c.163C>G (p.Arg55Gly)	TP53RK (R55G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444883	NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu)	TP53RK (R243L)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GPathogenic
Select item 444882	NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp)	TP53RK (G42D)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GPathogenic
Select item 444881	NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg)	TP53RK (T81R)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4	GPathogenic
Select item 444880	NM_033550.4(TP53RK):c.179del (p.Lys60fs)	TP53RK (K60fs)	Deletion (frameshift variant)	Galloway-Mowat syndrome 4	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Items: 78