RELCH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	LOC130062661, LOC130062662 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC130062755, LOC130062756 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062777, LOC130062778 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062712, LOC130062713 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC110121390, LOC111365201 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	ADNP2, ALPK2 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	ADNP2, ATP9B +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	BCL2, CBLN2 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	ADNP2, ATP9B +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	TSHZ1, TXNL4A +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
Select item 648516	NC_000018.9:g.(?_59713069)_(60131307_?)dup	LOC130062624, LOC130062625 +16 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 3152920	NM_001346231.2(RELCH):c.31A>C (p.Ser11Arg)	LOC130062624, RELCH (S11R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152922	NM_001346231.2(RELCH):c.32G>A (p.Ser11Asn)	LOC130062624, RELCH (S11N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152928	NM_001346231.2(RELCH):c.69T>A (p.Asp23Glu)	RELCH (D23E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152930	NM_001346231.2(RELCH):c.73G>A (p.Asp25Asn)	RELCH (D25N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152901	NM_001346231.2(RELCH):c.155C>G (p.Ala52Gly)	RELCH (A52G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570556	NM_001346231.2(RELCH):c.203G>A (p.Arg68Gln)	RELCH (R68Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152911	NM_001346231.2(RELCH):c.227C>T (p.Ser76Leu)	LOC130062625, RELCH (S76L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152915	NM_001346231.2(RELCH):c.247G>A (p.Gly83Arg)	LOC130062625, RELCH (G83R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152916	NM_001346231.2(RELCH):c.263C>A (p.Thr88Asn)	LOC130062625, RELCH (T88N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152917	NM_001346231.2(RELCH):c.268G>A (p.Ala90Thr)	LOC130062625, RELCH (A90T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152925	NM_001346231.2(RELCH):c.440T>C (p.Met147Thr)	RELCH (M147T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535854	NM_001346231.2(RELCH):c.469G>T (p.Gly157Cys)	RELCH (G157C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152926	NM_001346231.2(RELCH):c.530G>A (p.Arg177Gln)	RELCH (R177Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152927	NM_001346231.2(RELCH):c.559T>G (p.Leu187Val)	RELCH (L187V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522053	NM_001346231.2(RELCH):c.698T>G (p.Val233Gly)	RELCH (V233G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152929	NM_001346231.2(RELCH):c.713G>A (p.Arg238Gln)	RELCH (R238Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 744459	NM_001346231.2(RELCH):c.903T>G (p.Pro301=)	RELCH	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2603774	NM_001346231.2(RELCH):c.933T>G (p.Phe311Leu)	RELCH (F311L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488263	NM_001346231.2(RELCH):c.935G>T (p.Gly312Val)	RELCH (G312V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152931	NM_001346231.2(RELCH):c.944A>G (p.Gln315Arg)	RELCH (Q315R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152932	NM_001346231.2(RELCH):c.980G>A (p.Gly327Glu)	RELCH (G327E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483388	NM_001346231.2(RELCH):c.1054C>T (p.Pro352Ser)	LOC132090500, RELCH (P352S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 744460	NM_001346231.2(RELCH):c.1197A>G (p.Ala399=)	RELCH	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3152897	NM_001346231.2(RELCH):c.1208C>T (p.Ser403Phe)	RELCH (S403F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590889	NM_001346231.2(RELCH):c.1339A>G (p.Thr447Ala)	RELCH (T447A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152898	NM_001346231.2(RELCH):c.1355A>G (p.Asn452Ser)	RELCH (N452S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615190	NM_001346231.2(RELCH):c.1361C>G (p.Pro454Arg)	RELCH (P454R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152899	NM_001346231.2(RELCH):c.1493G>A (p.Arg498Gln)	RELCH (R498Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152900	NM_001346231.2(RELCH):c.1555G>A (p.Val519Ile)	RELCH (V519I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152902	NM_001346231.2(RELCH):c.1609G>A (p.Ala537Thr)	RELCH (A537T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480155	NM_001346231.2(RELCH):c.1648G>A (p.Ala550Thr)	RELCH (A550T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 92009	NM_001346231.2(RELCH):c.1735C>A (p.Gln579Lys)	RELCH (Q579K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3152903	NM_001346231.2(RELCH):c.1829A>C (p.Asn610Thr)	RELCH (N31T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152904	NM_001346231.2(RELCH):c.1888T>C (p.Tyr630His)	RELCH (Y630H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152905	NM_001346231.2(RELCH):c.2025C>A (p.Asp675Glu)	RELCH (D96E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152906	NM_001346231.2(RELCH):c.2151A>C (p.Leu717Phe)	RELCH (L717F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152907	NM_001346231.2(RELCH):c.2182A>G (p.Lys728Glu)	RELCH (K149E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152908	NM_001346231.2(RELCH):c.2186T>C (p.Ile729Thr)	RELCH (I150T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479250	NM_001346231.2(RELCH):c.2227C>A (p.His743Asn)	RELCH (H743N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152909	NM_001346231.2(RELCH):c.2232A>C (p.Lys744Asn)	RELCH (K752N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152912	NM_001346231.2(RELCH):c.2398A>G (p.Ile800Val)	RELCH (I221V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152913	NM_001346231.2(RELCH):c.2401A>G (p.Ile801Val)	RELCH (I222V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152914	NM_001346231.2(RELCH):c.2410C>T (p.Arg804Cys)	RELCH (R225C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475149	NM_001346231.2(RELCH):c.2561G>C (p.Cys854Ser)	RELCH (C854S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648775	NM_001346231.2(RELCH):c.2760+496T>G	RELCH (S932A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3152918	NM_001346231.2(RELCH):c.2794G>A (p.Glu932Lys)	RELCH (E932K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152919	NM_001346231.2(RELCH):c.3051-282C>T	RELCH (T991I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2672284	NM_001346231.2(RELCH):c.3126A>C (p.Arg1042Ser)	RELCH (R1038S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 3152921	NM_001346231.2(RELCH):c.3229G>A (p.Ala1077Thr)	RELCH (A1073T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570544	NM_001346231.2(RELCH):c.3347C>G (p.Ala1116Gly)	RELCH (A1150G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455184	NM_001346231.2(RELCH):c.3419G>A (p.Cys1140Tyr)	RELCH (C1148Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152923	NM_001346231.2(RELCH):c.3425G>A (p.Arg1142Gln)	RELCH (R563Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152924	NM_001346231.2(RELCH):c.3442C>T (p.Leu1148Phe)	RELCH (L1182F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 2427548	NC_000018.9:g.(?_59805456)_(60052267_?)dup	PIGN, RELCH +1 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526630	GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	FBXO15, SLC66A2 +57 more	Copy number loss	not specified	GPathogenic
Select item 1526628	GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	PHLPP1, PIGN +58 more	Copy number loss	not specified	GPathogenic
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic

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