"GeneDx"[submitter] AND "MLPH"[gene] - ClinVar

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

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	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 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +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 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	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 1230963	NM_024101.7(MLPH):c.-24-262A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1224701	NM_024101.7(MLPH):c.515G>A (p.Gly172Asp)	MLPH (G172D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 1247906	NM_024101.7(MLPH):c.681C>T (p.Leu227=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1279299	NM_024101.7(MLPH):c.866C>T (p.Thr289Ile)	MLPH (T249I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1246142	NM_024101.7(MLPH):c.880+157A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233750	NM_024101.7(MLPH):c.880+254T>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279479	NM_024101.7(MLPH):c.880+257A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305772	NM_024101.7(MLPH):c.992G>A (p.Arg331Gln)	MLPH (R291Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1283685	NM_024101.7(MLPH):c.1020+304T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238000	NM_024101.7(MLPH):c.1021-256G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288073	NM_024101.7(MLPH):c.1021-207C>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223011	NM_024101.7(MLPH):c.1021-182C>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229855	NM_024101.7(MLPH):c.1040A>G (p.His347Arg)	MLPH (H347R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1273815	NM_024101.7(MLPH):c.1104+117G>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232473	NM_024101.7(MLPH):c.1104+193C>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258608	NM_024101.7(MLPH):c.1104+219A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265234	NM_024101.7(MLPH):c.1104+252T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261737	NM_024101.7(MLPH):c.1105-1051A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290660	NM_024101.7(MLPH):c.1105-279A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235849	NM_024101.7(MLPH):c.1105-238A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278981	NM_024101.7(MLPH):c.1105-223T>C	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274242	NM_024101.7(MLPH):c.1137T>C (p.Asp379=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1309152	NM_024101.7(MLPH):c.1138G>A (p.Val380Ile)	MLPH (V237I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451506	NM_024101.7(MLPH):c.1142AGG[2] (p.Glu383del)	MLPH (E383del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1253962	NM_024101.7(MLPH):c.1171_1172delinsAT (p.Glu391Met)	MLPH (E248M +3 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1287353	NM_024101.7(MLPH):c.1221A>G (p.Glu407=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	Griscelli syndrome type 3 +1 more	GBenign
Select item 1246554	NM_024101.7(MLPH):c.1222G>T (p.Ala408Ser)	MLPH (A265S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780370	NM_024101.7(MLPH):c.1240G>C (p.Glu414Gln)	MLPH (E271Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1228751	NM_024101.7(MLPH):c.1447-43G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230862	NM_024101.7(MLPH):c.1540-149C>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282386	NM_024101.7(MLPH):c.1618-180A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261689	NM_024101.7(MLPH):c.1675+259G>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281409	NM_024101.7(MLPH):c.1676-309G>A	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280352	NM_024101.7(MLPH):c.1676-246A>G	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250513	NM_024101.7(MLPH):c.1777-140C>T	MLPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246991	NM_024101.7(MLPH):c.*89A>G	MLPH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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: 64