20884[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2620933	NM_001029884.3(PLEKHG1):c.13G>A (p.Asp5Asn)	PLEKHG1 (D45N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490600	NM_001029884.3(PLEKHG1):c.20A>C (p.Asp7Ala)	PLEKHG1 (D47A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214897	NM_001029884.3(PLEKHG1):c.85G>A (p.Gly29Ser)	PLEKHG1 (G88S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214881	NM_001029884.3(PLEKHG1):c.149G>A (p.Gly50Glu)	PLEKHG1 (G50E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406152	NM_001029884.3(PLEKHG1):c.221C>T (p.Thr74Met)	PLEKHG1 (T114M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214888	NM_001029884.3(PLEKHG1):c.251A>G (p.Glu84Gly)	PLEKHG1 (E143G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254596	NM_001029884.3(PLEKHG1):c.289G>A (p.Gly97Arg)	PLEKHG1 (G137R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408530	NM_001029884.3(PLEKHG1):c.296C>G (p.Pro99Arg)	PLEKHG1 (P139R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409640	NM_001029884.3(PLEKHG1):c.302C>T (p.Thr101Met)	PLEKHG1 (T160M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400898	NM_001029884.3(PLEKHG1):c.302C>A (p.Thr101Lys)	PLEKHG1 (T101K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402188	NM_001029884.3(PLEKHG1):c.377G>A (p.Arg126Lys)	PLEKHG1 (R185K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371499	NM_001029884.3(PLEKHG1):c.433G>A (p.Asp145Asn)	PLEKHG1 (D204N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494408	NM_001029884.3(PLEKHG1):c.496A>G (p.Ile166Val)	PLEKHG1 (I225V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307024	NM_001029884.3(PLEKHG1):c.500A>G (p.Tyr167Cys)	PLEKHG1 (Y226C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214896	NM_001029884.3(PLEKHG1):c.590A>C (p.Glu197Ala)	PLEKHG1 (E197A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382444	NM_001029884.3(PLEKHG1):c.634G>A (p.Val212Met)	PLEKHG1 (V252M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386959	NM_001029884.3(PLEKHG1):c.691C>T (p.Arg231Cys)	PLEKHG1 (R271C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269658	NM_001029884.3(PLEKHG1):c.1001G>A (p.Arg334Gln)	PLEKHG1 (R374Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220579	NM_001029884.3(PLEKHG1):c.1348A>G (p.Thr450Ala)	PLEKHG1 (T411A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214880	NM_001029884.3(PLEKHG1):c.1490C>A (p.Ser497Tyr)	PLEKHG1 (S458Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214882	NM_001029884.3(PLEKHG1):c.1561A>G (p.Ser521Gly)	PLEKHG1 (S580G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346752	NM_001029884.3(PLEKHG1):c.1564G>A (p.Val522Met)	PLEKHG1 (V483M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610722	NM_001029884.3(PLEKHG1):c.1622C>T (p.Ala541Val)	PLEKHG1 (A528V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559024	NM_001029884.3(PLEKHG1):c.1625T>G (p.Leu542Trp)	PLEKHG1 (L503W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307544	NM_001029884.3(PLEKHG1):c.1822C>T (p.Arg608Trp)	PLEKHG1 (R595W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260911	NM_001029884.3(PLEKHG1):c.1830C>A (p.Ser610Arg)	PLEKHG1 (S610R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214883	NM_001029884.3(PLEKHG1):c.1924G>A (p.Glu642Lys)	PLEKHG1 (E682K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370376	NM_001029884.3(PLEKHG1):c.1948A>G (p.Ile650Val)	PLEKHG1 (I637V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2656996	NM_001029884.3(PLEKHG1):c.1983T>C (p.Tyr661=)	PLEKHG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2492453	NM_001029884.3(PLEKHG1):c.2027G>A (p.Arg676Gln)	PLEKHG1 (R663Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208815	NM_001029884.3(PLEKHG1):c.2074C>T (p.Arg692Cys)	PLEKHG1 (R692C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208539	NM_001029884.3(PLEKHG1):c.2075G>A (p.Arg692His)	PLEKHG1 (R751H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392855	NM_001029884.3(PLEKHG1):c.2135C>G (p.Ser712Cys)	PLEKHG1 (S752C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214884	NM_001029884.3(PLEKHG1):c.2148A>C (p.Gln716His)	PLEKHG1 (Q703H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214885	NM_001029884.3(PLEKHG1):c.2150C>T (p.Thr717Ile)	PLEKHG1 (T678I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315031	NM_001029884.3(PLEKHG1):c.2174A>G (p.Glu725Gly)	PLEKHG1 (E686G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307550	NM_001029884.3(PLEKHG1):c.2177C>T (p.Ala726Val)	PLEKHG1 (A713V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288182	NM_001029884.3(PLEKHG1):c.2291A>G (p.Lys764Arg)	PLEKHG1 (K751R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161500	NM_001029884.3(PLEKHG1):c.2293C>T (p.Arg765Trp)	PLEKHG1 (R765W +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2595054	NM_001029884.3(PLEKHG1):c.2294G>A (p.Arg765Gln)	PLEKHG1 (R726Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214887	NM_001029884.3(PLEKHG1):c.2314G>A (p.Glu772Lys)	PLEKHG1 (E733K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512682	NM_001029884.3(PLEKHG1):c.2386G>A (p.Glu796Lys)	PLEKHG1 (E757K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295633	NM_001029884.3(PLEKHG1):c.2393C>T (p.Pro798Leu)	PLEKHG1 (P785L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295634	NM_001029884.3(PLEKHG1):c.2395T>A (p.Tyr799Asn)	PLEKHG1 (Y786N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295635	NM_001029884.3(PLEKHG1):c.2399A>T (p.His800Leu)	PLEKHG1 (H787L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463967	NM_001029884.3(PLEKHG1):c.2566C>A (p.Arg856Ser)	PLEKHG1 (R896S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359705	NM_001029884.3(PLEKHG1):c.2591G>T (p.Ser864Ile)	PLEKHG1 (S904I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404223	NM_001029884.3(PLEKHG1):c.2685G>C (p.Glu895Asp)	PLEKHG1 (E954D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535501	NM_001029884.3(PLEKHG1):c.2725A>G (p.Arg909Gly)	PLEKHG1 (R909G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312223	NM_001029884.3(PLEKHG1):c.2741A>G (p.Asn914Ser)	PLEKHG1 (N875S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251286	NM_001029884.3(PLEKHG1):c.2791C>T (p.Leu931Phe)	PLEKHG1 (L918F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214889	NM_001029884.3(PLEKHG1):c.2796C>A (p.Asn932Lys)	PLEKHG1 (N893K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214890	NM_001029884.3(PLEKHG1):c.2798G>A (p.Arg933Gln)	PLEKHG1 (R992Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307547	NM_001029884.3(PLEKHG1):c.2822C>T (p.Pro941Leu)	PLEKHG1 (P902L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342257	NM_001029884.3(PLEKHG1):c.2941C>T (p.Arg981Trp)	PLEKHG1 (R1040W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404328	NM_001029884.3(PLEKHG1):c.2942G>A (p.Arg981Gln)	PLEKHG1 (R981Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332271	NM_001029884.3(PLEKHG1):c.3004G>A (p.Glu1002Lys)	PLEKHG1 (E1002K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260478	NM_001029884.3(PLEKHG1):c.3060C>G (p.Ile1020Met)	PLEKHG1 (I1020M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463542	NM_001029884.3(PLEKHG1):c.3071A>G (p.Lys1024Arg)	PLEKHG1 (K1024R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214891	NM_001029884.3(PLEKHG1):c.3091A>G (p.Ile1031Val)	PLEKHG1 (I992V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214892	NM_001029884.3(PLEKHG1):c.3101G>A (p.Arg1034Lys)	PLEKHG1 (R1074K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320458	NM_001029884.3(PLEKHG1):c.3179C>T (p.Ala1060Val)	PLEKHG1 (A1021V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596550	NM_001029884.3(PLEKHG1):c.3215C>T (p.Ser1072Leu)	PLEKHG1 (S1072L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256760	NM_001029884.3(PLEKHG1):c.3283G>A (p.Ala1095Thr)	PLEKHG1 (A1154T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404317	NM_001029884.3(PLEKHG1):c.3332C>T (p.Thr1111Met)	PLEKHG1 (T1111M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454255	NM_001029884.3(PLEKHG1):c.3349A>G (p.Lys1117Glu)	PLEKHG1 (K1078E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329392	NM_001029884.3(PLEKHG1):c.3442G>C (p.Val1148Leu)	PLEKHG1 (V1109L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267246	NM_001029884.3(PLEKHG1):c.3500G>T (p.Gly1167Val)	PLEKHG1 (G1154V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308765	NM_001029884.3(PLEKHG1):c.3502C>T (p.Arg1168Trp)	PLEKHG1 (R1208W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218005	NM_001029884.3(PLEKHG1):c.3509G>T (p.Gly1170Val)	PLEKHG1 (G1131V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307549	NM_001029884.3(PLEKHG1):c.3517G>A (p.Ala1173Thr)	PLEKHG1 (A1173T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307546	NM_001029884.3(PLEKHG1):c.3538A>T (p.Arg1180Trp)	PLEKHG1 (R1141W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468798	NM_001029884.3(PLEKHG1):c.3577A>G (p.Met1193Val)	PLEKHG1 (M1252V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479926	NM_001029884.3(PLEKHG1):c.3626C>G (p.Ser1209Cys)	PLEKHG1 (S1170C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220531	NM_001029884.3(PLEKHG1):c.3666G>C (p.Leu1222Phe)	PLEKHG1 (L1209F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543285	NM_001029884.3(PLEKHG1):c.3817A>G (p.Thr1273Ala)	PLEKHG1 (T1234A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304603	NM_001029884.3(PLEKHG1):c.3859G>A (p.Glu1287Lys)	PLEKHG1 (E1248K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214894	NM_001029884.3(PLEKHG1):c.3892C>T (p.Arg1298Cys)	PLEKHG1 (R1357C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307545	NM_001029884.3(PLEKHG1):c.3893G>A (p.Arg1298His)	PLEKHG1 (R1259H +4 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3214895	NM_001029884.3(PLEKHG1):c.3991A>C (p.Lys1331Gln)	PLEKHG1 (K1292Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367510	NM_001029884.3(PLEKHG1):c.3998C>T (p.Pro1333Leu)	PLEKHG1 (P1320L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494957	NM_001029884.3(PLEKHG1):c.4149C>G (p.Ser1383Arg)	PLEKHG1 (S1423R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2684458	GRCh37/hg19 6q25.1(chr6:151110723-151416268)x3	MTHFD1L, PLEKHG1	Copy number gain	not provided	GUncertain significance
Select item 980797	GRCh37/hg19 6q25.1(chr6:151121109-151664579)x3	AKAP12, MTHFD1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 814880	GRCh37/hg19 6q25.1(chr6:150665650-151126443)x3	IYD, PLEKHG1	Copy number gain	not provided	GUncertain significance
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 687883	GRCh37/hg19 6q25.1(chr6:151125814-151676908)x3	AKAP12, MTHFD1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394942	GRCh37/hg19 6q25.1(chr6:150981044-151304777)x3	MTHFD1L, PLEKHG1	Copy number gain	See cases	GLikely benign

<< First< Prev

Page of 2