MLPH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 1230963	NM_024101.7(MLPH):c.-24-262A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3295207	NM_024101.7(MLPH):c.22T>C (p.Ser8Pro)	MLPH (S8P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723824	NM_024101.7(MLPH):c.39A>G (p.Glu13=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 636328	NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)	MLPH (R24*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1387261	NM_024101.7(MLPH):c.97G>A (p.Glu33Lys)	MLPH (E33K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4268	NM_024101.7(MLPH):c.103C>T (p.Arg35Trp)	MLPH (R35W)	Single nucleotide variant (missense variant +1 more)	Griscelli syndrome type 3	GLikely pathogenic
Select item 191157	NM_024101.7(MLPH):c.104G>A (p.Arg35Gln)	MLPH (R35Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1637911	NM_024101.7(MLPH):c.110+11C>T	MLPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961503	NM_024101.7(MLPH):c.110+14G>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778284	NM_024101.7(MLPH):c.132G>A (p.Lys44=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1655837	NM_024101.7(MLPH):c.180C>T (p.Asn60=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 754576	NM_024101.7(MLPH):c.183G>A (p.Glu61=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1599849	NM_024101.7(MLPH):c.215A>G (p.Gln72Arg)	MLPH (Q72R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3295211	NM_024101.7(MLPH):c.240G>C (p.Gln80His)	MLPH (Q80H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390009	NM_024101.7(MLPH):c.280C>T (p.Arg94Cys)	MLPH (R94C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1511546	NM_024101.7(MLPH):c.281G>A (p.Arg94His)	MLPH (R94H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3351206	NM_024101.7(MLPH):c.291G>A (p.Pro97=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	MLPH-related disorder	GLikely benign
Select item 1686914	NM_024101.7(MLPH):c.292G>T (p.Glu98Ter)	MLPH	Single nucleotide variant (nonsense +1 more)	Griscelli syndrome type 3	GPathogenic
Select item 1602991	NM_024101.7(MLPH):c.292G>A (p.Glu98Lys)	MLPH (E98K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2293249	NM_024101.7(MLPH):c.295G>A (p.Glu99Lys)	MLPH (E99K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2772757	NM_024101.7(MLPH):c.318del (p.Cys107fs)	MLPH (C107fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1324723	NM_024101.7(MLPH):c.332+1G>T	MLPH	Single nucleotide variant (splice donor variant)	Griscelli syndrome type 3	GLikely pathogenic
Select item 1275303	NM_024101.7(MLPH):c.333-21A>G	MIR6811, MLPH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 744408	NM_024101.7(MLPH):c.333-10G>A	MIR6811, MLPH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2716758	NM_024101.7(MLPH):c.336C>T (p.Val112=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752996	NM_024101.7(MLPH):c.345C>T (p.Ile115=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210021	NM_024101.7(MLPH):c.367G>A (p.Glu123Lys)	MLPH (E123K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733682	NM_024101.7(MLPH):c.372T>C (p.His124=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1601105	NM_024101.7(MLPH):c.415C>T (p.Arg139Trp)	MLPH (R139W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2323371	NM_024101.7(MLPH):c.440G>A (p.Gly147Asp)	MLPH (G147D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1933869	NM_024101.7(MLPH):c.445+15G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263805	NM_024101.7(MLPH):c.445+183del	MLPH	Deletion (intron variant)	not provided	GBenign
Select item 1242269	NM_024101.7(MLPH):c.445+215T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179714	NM_024101.7(MLPH):c.446-292A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288370	NM_024101.7(MLPH):c.446-229G>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233553	NM_024101.7(MLPH):c.446-40T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267164	NM_024101.7(MLPH):c.458T>C (p.Leu153Pro)	MLPH (L153P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1302485	NM_024101.7(MLPH):c.479G>A (p.Gly160Glu)	MLPH (G160E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284306	NM_024101.7(MLPH):c.487G>A (p.Asp163Asn)	MLPH (D163N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1224701	NM_024101.7(MLPH):c.515G>A (p.Gly172Asp)	MLPH (G172D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3068068	NM_024101.7(MLPH):c.523GCCCAG[4] (p.Gln180_Pro181insAlaGln)	MLPH	Microsatellite (inframe_insertion +1 more)	Griscelli syndrome type 3	GUncertain significance
Select item 728022	NM_024101.7(MLPH):c.522G>A (p.Glu174=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1227817	NM_024101.7(MLPH):c.556-297T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250648	NM_024101.7(MLPH):c.556-226T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229343	NM_024101.7(MLPH):c.556-223A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295953	NM_024101.7(MLPH):c.556-135G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233484	NM_024101.7(MLPH):c.556-99T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278917	NM_024101.7(MLPH):c.556-94G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3210074	NM_024101.7(MLPH):c.563G>A (p.Arg188His)	MLPH (R188H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3295208	NM_024101.7(MLPH):c.574G>A (p.Val192Ile)	MLPH (V192I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2175477	NM_024101.7(MLPH):c.579C>T (p.His193=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1312044	NM_024101.7(MLPH):c.580G>A (p.Asp194Asn)	MLPH (D194N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3295209	NM_024101.7(MLPH):c.586G>A (p.Asp196Asn)	MLPH (D196N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1924709	NM_024101.7(MLPH):c.591C>T (p.Phe197=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1305771	NM_024101.7(MLPH):c.624A>C (p.Gln208His)	MLPH (Q208H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3210128	NM_024101.7(MLPH):c.634C>G (p.Leu212Val)	MLPH (L212V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2967526	NM_024101.7(MLPH):c.675+15G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234637	NM_024101.7(MLPH):c.675+151A>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181495	NM_024101.7(MLPH):c.675+289G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233663	NM_024101.7(MLPH):c.676-289T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250855	NM_024101.7(MLPH):c.676-279T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954811	NM_024101.7(MLPH):c.676T>A (p.Ser226Thr)	MLPH (S226T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2965119	NM_024101.7(MLPH):c.677C>G (p.Ser226Cys)	MLPH (S186C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1247906	NM_024101.7(MLPH):c.681C>T (p.Leu227=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2528272	NM_024101.7(MLPH):c.686A>G (p.Asp229Gly)	MLPH (D189G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1428479	NM_024101.7(MLPH):c.706G>A (p.Ala236Thr)	MLPH (A236T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2075132	NM_024101.7(MLPH):c.728G>A (p.Gly243Asp)	MLPH (G243D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3055459	NM_024101.7(MLPH):c.738G>A (p.Glu246=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	MLPH-related disorder	GLikely benign

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