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	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +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	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +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	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +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	LOC132090497, LOC130062628 +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 3313564	NM_001346231.2(RELCH):c.434C>T (p.Pro145Leu)	LOC130062625, RELCH (P145L)	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 3313566	NM_001346231.2(RELCH):c.1000G>A (p.Glu334Lys)	RELCH (E334K)	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 3313569	NM_001346231.2(RELCH):c.1483T>C (p.Ser495Pro)	RELCH (S495P)	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 3313571	NM_001346231.2(RELCH):c.1676G>A (p.Arg559Gln)	RELCH (R559Q +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 3313565	NM_001346231.2(RELCH):c.2227C>T (p.His743Tyr)	RELCH (H743Y +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 3313568	NM_001346231.2(RELCH):c.2335G>T (p.Val779Leu)	RELCH (V779L +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 3313574	NM_001346231.2(RELCH):c.2824C>T (p.His942Tyr)	RELCH (H938Y +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 3313570	NM_001346231.2(RELCH):c.3051-232C>T	RELCH (L1008F)	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 3313573	NM_001346231.2(RELCH):c.3460G>T (p.Val1154Phe)	RELCH (V1188F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313575	NM_001346231.2(RELCH):c.3544G>A (p.Ala1182Thr)	RELCH (C1158Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313572	NM_001346231.2(RELCH):c.3595G>A (p.Gly1199Ser)	RELCH (G1233S +4 more)	Single nucleotide variant (missense variant +2 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

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