KCNN4[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 2433013	NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)	KCNN4 (Q424H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2263581	NM_002250.3(KCNN4):c.1246C>T (p.Pro416Ser)	KCNN4 (P416S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433014	NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)	KCNN4 (T398M)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2 +1 more	GUncertain significance
Select item 2209966	NM_002250.3(KCNN4):c.1169G>A (p.Arg390Gln)	KCNN4 (R390Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3051935	NM_002250.3(KCNN4):c.1159A>C (p.Ser387Arg)	KCNN4 (S387R)	Single nucleotide variant (missense variant)	KCNN4-related disorder	GUncertain significance
Select item 1913254	NM_002250.3(KCNN4):c.1120-16C>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238258	NM_002250.3(KCNN4):c.1120-76T>C	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 252601	NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)	KCNN4 (R352H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1260319	NM_002250.3(KCNN4):c.1049+78A>G	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049273	NM_002250.3(KCNN4):c.1039G>A (p.Ala347Thr)	KCNN4 (A347T)	Single nucleotide variant (missense variant)	KCNN4-related disorder	GUncertain significance
Select item 1658652	NM_002250.3(KCNN4):c.1038C>T (p.Ala346=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007816	NM_002250.3(KCNN4):c.1018C>A (p.His340Asn)	KCNN4 (H340N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333884	NM_002250.3(KCNN4):c.1007C>T (p.Ala336Val)	KCNN4 (A336V)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 3008955	NM_002250.3(KCNN4):c.990C>T (p.Arg330=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2349305	NM_002250.3(KCNN4):c.970A>G (p.Met324Val)	KCNN4 (M324V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054915	NM_002250.3(KCNN4):c.950G>A (p.Arg317Gln)	KCNN4 (R317Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601062	NM_002250.3(KCNN4):c.942C>T (p.Ser314=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 978810	NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro)	KCNN4 (S314P)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 2330437	NM_002250.3(KCNN4):c.928G>A (p.Glu310Lys)	KCNN4 (E310K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650070	NM_002250.3(KCNN4):c.918G>A (p.Gln306=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689295	NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)	KCNN4 (M302L)	Single nucleotide variant (missense variant)	KCNN4-related disorder +1 more	GUncertain significance
Select item 2474157	NM_002250.3(KCNN4):c.892G>T (p.Val298Leu)	KCNN4 (V298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113459	NM_002250.3(KCNN4):c.854T>G (p.Val285Gly)	KCNN4 (V285G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239456	NM_002250.3(KCNN4):c.850G>A (p.Val284Met)	KCNN4 (V284M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 372186	NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)	KCNN4 (V282E)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GLikely pathogenic
Select item 372185	NM_002250.3(KCNN4):c.844G>A (p.Val282Met)	KCNN4 (V282M)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GLikely pathogenic
Select item 2433020	NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)	KCNN4 (L280Q)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 790207	NM_002250.3(KCNN4):c.820-2dup	KCNN4	Duplication (splice acceptor variant)	not provided +2 more	GBenign/Likely benign
Select item 2961949	NM_002250.3(KCNN4):c.820-16C>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283590	NM_002250.3(KCNN4):c.820-60C>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272371	NM_002250.3(KCNN4):c.820-151G>A	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237139	NM_002250.3(KCNN4):c.819+252A>G	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2475930	NM_002250.3(KCNN4):c.790A>C (p.Lys264Gln)	KCNN4 (K264Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433017	NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)	KCNN4 (G263S)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433022	NM_002250.3(KCNN4):c.766G>A (p.Val256Met)	KCNN4 (V256M)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2689293	NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)	KCNN4	Deletion (nonsense)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 1277282	NM_002250.3(KCNN4):c.684-83T>C	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268260	NM_002250.3(KCNN4):c.684-226A>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261511	NM_002250.3(KCNN4):c.684-300C>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2650071	NM_002250.3(KCNN4):c.683+333G>C	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2067390	NM_002250.3(KCNN4):c.636G>A (p.Thr212=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689294	NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)	KCNN4 (P204R)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2721600	NM_002250.3(KCNN4):c.540C>G (p.Arg180=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3031116	NM_002250.3(KCNN4):c.519C>T (p.Val173=)	KCNN4	Single nucleotide variant (synonymous variant)	KCNN4-related disorder	GLikely benign
Select item 719211	NM_002250.3(KCNN4):c.504C>T (p.Leu168=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2524082	NM_002250.3(KCNN4):c.458C>T (p.Ser153Phe)	KCNN4 (S153F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729456	NM_002250.3(KCNN4):c.447A>C (p.Glu149Asp)	KCNN4 (E149D)	Single nucleotide variant (missense variant)	KCNN4-related disorder +1 more	GLikely benign
Select item 1803623	NM_002250.3(KCNN4):c.445G>A (p.Glu149Lys)	KCNN4 (E149K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433016	NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)	KCNN4 (L131I)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433018	NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)	KCNN4 (V114L)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2 +1 more	GUncertain significance
Select item 2144072	NM_002250.3(KCNN4):c.334C>T (p.Leu112=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539471	NM_002250.3(KCNN4):c.304G>T (p.Gly102Trp)	KCNN4 (G102W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433012	NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)	KCNN4 (R97S)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 3113457	NM_002250.3(KCNN4):c.274G>T (p.Gly92Trp)	KCNN4 (G92W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433015	NM_002250.3(KCNN4):c.263T>G (p.Met88Arg)	KCNN4, LOC128598884 (M88R)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 1675750	NM_002250.3(KCNN4):c.256-5G>A	KCNN4, LOC128598884	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1272988	NM_002250.3(KCNN4):c.256-8A>C	KCNN4, LOC128598884	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249984	NM_002250.3(KCNN4):c.256-10C>T	KCNN4, LOC128598884	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234226	NM_002250.3(KCNN4):c.255+215C>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280011	NM_002250.3(KCNN4):c.255+184C>A	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2747933	NM_002250.3(KCNN4):c.243C>T (p.Ala81=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2861349	NM_002250.3(KCNN4):c.238C>T (p.His80Tyr)	KCNN4 (H80Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349860	NM_002250.3(KCNN4):c.233C>T (p.Ala78Val)	KCNN4 (A78V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 720213	NM_002250.3(KCNN4):c.229G>A (p.Val77Met)	KCNN4 (V77M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2628991	NM_002250.3(KCNN4):c.228C>G (p.Ile76Met)	KCNN4 (I76M)	Single nucleotide variant (missense variant)	KCNN4-related disorder	GUncertain significance
Select item 3113456	NM_002250.3(KCNN4):c.213A>T (p.Leu71Phe)	KCNN4 (L71F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211773	NM_002250.3(KCNN4):c.191C>T (p.Thr64Met)	KCNN4 (T64M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1918879	NM_002250.3(KCNN4):c.165G>A (p.Ala55=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045555	NM_002250.3(KCNN4):c.160-7dup	KCNN4	Duplication (intron variant)	KCNN4-related disorder	GLikely benign
Select item 1901241	NM_002250.3(KCNN4):c.160-15C>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224292	NM_002250.3(KCNN4):c.160-49C>T	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262304	NM_002250.3(KCNN4):c.160-82del	KCNN4	Deletion (intron variant)	not provided	GBenign
Select item 1257382	NM_002250.3(KCNN4):c.160-192A>C	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1597391	NM_002250.3(KCNN4):c.159+1824A>G	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291642	NM_002250.3(KCNN4):c.159+207A>G	KCNN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2903617	NM_002250.3(KCNN4):c.159G>A (p.Ser53=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3048519	NM_002250.3(KCNN4):c.150G>A (p.Gly50=)	KCNN4	Single nucleotide variant (synonymous variant)	KCNN4-related disorder	GLikely benign
Select item 739520	NM_002250.3(KCNN4):c.147C>T (p.Phe49=)	KCNN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292505	NM_002250.3(KCNN4):c.49C>T (p.Arg17Cys)	KCNN4 (R17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032954	NM_002250.3(KCNN4):c.44G>A (p.Arg15Gln)	KCNN4 (R15Q)	Single nucleotide variant (missense variant)	KCNN4-related disorder	GUncertain significance
Select item 2578032	NM_002250.3(KCNN4):c.43C>G (p.Arg15Gly)	KCNN4 (R15G)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2689296	NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)	KCNN4 (R14C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2282735	NM_002250.3(KCNN4):c.36G>C (p.Leu12Phe)	KCNN4 (L12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531586	NM_002250.3(KCNN4):c.31G>A (p.Ala11Thr)	KCNN4 (A11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689292	NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)	KCNN4 (L7P)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 2433021	NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)	KCNN4 (G3E)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis 2	GUncertain significance
Select item 3113458	NM_002250.3(KCNN4):c.4G>A (p.Gly2Ser)	KCNN4 (G2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1511648	NM_002250.2(KCNN4):c.-365G>T	KCNN4	Single nucleotide variant	KCNN4-related disorder +1 more	GBenign/Likely benign
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395034	GRCh37/hg19 19q13.31(chr19:44273854-44341333)x3	KCNN4, LYPD5 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 97