UPK3A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 341967	NM_006953.4(UPK3A):c.-26C>G	LOC130067680, UPK3A	Single nucleotide variant (5 prime UTR variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341968	NM_006953.4(UPK3A):c.-25G>C	LOC130067680, UPK3A	Single nucleotide variant (5 prime UTR variant)	Renal hypodysplasia/aplasia 1	GBenign
Select item 191171	NM_006953.4(UPK3A):c.53-1G>A	UPK3A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 341969	NM_006953.4(UPK3A):c.90C>T (p.Phe30=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2615214	NM_006953.4(UPK3A):c.109C>G (p.Leu37Val)	UPK3A (L37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 591775	NM_006953.4(UPK3A):c.115A>G (p.Thr39Ala)	UPK3A (T39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636161	NM_006953.4(UPK3A):c.148G>C (p.Asp50His)	UPK3A (D50H)	Single nucleotide variant (missense variant)	UPK3A-related disorder	GUncertain significance
Select item 3186811	NM_006953.4(UPK3A):c.177C>A (p.His59Gln)	UPK3A (H59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224348	NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn)	UPK3A (D68N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1249600	NM_006953.4(UPK3A):c.208+298G>C	UPK3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237634	NM_006953.4(UPK3A):c.209-78A>G	UPK3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341970	NM_006953.4(UPK3A):c.209-11C>T	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341971	NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala)	UPK3A (S87A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 341972	NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter)	UPK3A (S87*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign/Likely benign
Select item 903368	NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu)	UPK3A (Q91L)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
Select item 341973	NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn)	UPK3A (S111N)	Single nucleotide variant (missense variant +1 more)	UPK3A-related disorder +1 more	GUncertain significance
Select item 2373968	NM_006953.4(UPK3A):c.335A>C (p.Asp112Ala)	UPK3A (D112A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631860	NM_006953.4(UPK3A):c.356T>G (p.Ile119Ser)	UPK3A (I119S)	Single nucleotide variant (missense variant +1 more)	UPK3A-related disorder	GUncertain significance
Select item 721168	NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr)	UPK3A (I119T)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1 +2 more	GBenign/Likely benign
Select item 899758	NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu)	UPK3A (G120E)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 899759	NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr)	UPK3A (D121Y)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341974	NM_006953.4(UPK3A):c.402C>T (p.Val134=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
Select item 341975	NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys)	UPK3A (R135K)	Single nucleotide variant (missense variant +1 more)	UPK3A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 899760	NM_006953.4(UPK3A):c.417C>T (p.Asn139=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 341976	NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg)	UPK3A (G140R)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 2203781	NM_006953.4(UPK3A):c.440A>G (p.Asn147Ser)	UPK3A (N147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035875	NM_006953.4(UPK3A):c.447G>C (p.Gln149His)	UPK3A (Q149H)	Single nucleotide variant (missense variant +1 more)	UPK3A-related disorder	GLikely benign
Select item 900912	NM_006953.4(UPK3A):c.450C>A (p.Gly150=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341977	NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro)	UPK3A (A154P)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
Select item 341978	NM_006953.4(UPK3A):c.465C>T (p.Pro155=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
Select item 341979	NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu)	UPK3A (S157L)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 900913	NM_006953.4(UPK3A):c.480G>A (p.Thr160=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 2613716	NM_006953.4(UPK3A):c.482A>T (p.Glu161Val)	UPK3A (E161V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 391586	NM_006953.4(UPK3A):c.488+2T>C	UPK3A	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3239289	NM_006953.4(UPK3A):c.510T>C (p.Asn170=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2223615	NM_006953.4(UPK3A):c.529G>A (p.Glu177Lys)	UPK3A (E177K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 341980	NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter)	UPK3A (W182*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign/Likely benign
Select item 591156	NM_006953.4(UPK3A):c.546G>A (p.Trp182Ter)	UPK3A (W182*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 591205	NM_006953.4(UPK3A):c.548_549inv (p.Ser183Leu)	UPK3A (S183L)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 341981	NM_006953.4(UPK3A):c.549A>G (p.Ser183=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2593128	NM_006953.4(UPK3A):c.559C>T (p.Arg187Cys)	UPK3A (R187C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 341982	NM_006953.4(UPK3A):c.560G>A (p.Arg187His)	UPK3A (R187H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 731820	NM_006953.4(UPK3A):c.571+1G>A	UPK3A	Single nucleotide variant (splice donor variant +1 more)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 2219519	NM_006953.4(UPK3A):c.584C>T (p.Ser195Leu)	UPK3A (S74L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030096	NM_006953.4(UPK3A):c.585G>A (p.Ser195=)	UPK3A	Single nucleotide variant (synonymous variant)	UPK3A-related disorder	GLikely benign
Select item 341983	NM_006953.4(UPK3A):c.588G>A (p.Thr196=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 875	NM_006953.4(UPK3A):c.605G>A (p.Gly202Asp)	UPK3A (G202D +1 more)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GUncertain significance
Select item 2472114	NM_006953.4(UPK3A):c.608G>A (p.Arg203Gln)	UPK3A (R82Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374857	NM_006953.4(UPK3A):c.610C>T (p.Arg204Trp)	UPK3A (R83W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465650	NM_006953.4(UPK3A):c.611G>A (p.Arg204Gln)	UPK3A (R83Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 378846	NM_006953.4(UPK3A):c.628G>A (p.Val210Ile)	UPK3A (V210I +1 more)	Single nucleotide variant (missense variant)	UPK3A-related disorder +2 more	GBenign/Likely benign
Select item 902580	NM_006953.4(UPK3A):c.704+8C>G	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 341984	NM_006953.4(UPK3A):c.704+8C>A	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 2227376	NM_006953.4(UPK3A):c.710T>A (p.Met237Lys)	UPK3A (M116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 341985	NM_006953.4(UPK3A):c.731C>T (p.Thr244Met)	UPK3A (T244M +1 more)	Single nucleotide variant (missense variant)	UPK3A-related disorder +1 more	GUncertain significance
Select item 903431	NM_006953.4(UPK3A):c.732G>A (p.Thr244=)	UPK3A	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 2653283	NM_006953.4(UPK3A):c.760G>C (p.Ala254Pro)	UPK3A (A133P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432666	NM_006953.4(UPK3A):c.773C>T (p.Ser258Leu)	UPK3A (S258L +1 more)	Single nucleotide variant (missense variant)	UPK3A-related disorder +1 more	GUncertain significance
Select item 3033811	NM_006953.4(UPK3A):c.786G>A (p.Ser262=)	UPK3A	Single nucleotide variant (synonymous variant)	UPK3A-related disorder	GLikely benign
Select item 341986	NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro)	UPK3A (S268P +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 3186812	NM_006953.4(UPK3A):c.812G>A (p.Arg271Gln)	UPK3A (R271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 873	NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu)	UPK3A (P273L +1 more)	Single nucleotide variant (missense variant)	UPK3A-related disorder +2 more	GUncertain significance
Select item 2480650	NM_006953.4(UPK3A):c.841T>C (p.Tyr281His)	UPK3A (Y160H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 341987	NM_006953.4(UPK3A):c.858A>G (p.Gln286=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 341988	NM_006953.4(UPK3A):c.*26C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 341989	NM_006953.4(UPK3A):c.*42C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 899813	NM_006953.4(UPK3A):c.*73C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 874	NM_006953.4(UPK3A):c.*107T>C	UPK3A	Single nucleotide variant (3 prime UTR variant)	UPK3A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic

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