"Ambry Genetics"[submitter] AND "RELCH"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59