PALM3[gene] - ClinVar

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

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 2232614	NM_001145028.2(PALM3):c.2059G>C (p.Val687Leu)	PALM3 (V621L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403907	NM_001145028.2(PALM3):c.2057C>T (p.Ala686Val)	PALM3 (A620V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309805	NM_001145028.2(PALM3):c.2039A>G (p.Lys680Arg)	PALM3 (K614R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208207	NM_001145028.2(PALM3):c.1939G>A (p.Ala647Thr)	PALM3 (A581T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208206	NM_001145028.2(PALM3):c.1867C>T (p.Leu623Phe)	PALM3 (L557F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781460	NM_001145028.2(PALM3):c.1827C>T (p.Thr609=)	PALM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2540346	NM_001145028.2(PALM3):c.1819C>T (p.Pro607Ser)	PALM3 (P607S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600848	NM_001145028.2(PALM3):c.1765G>A (p.Gly589Arg)	PALM3 (G523R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344322	NM_001145028.2(PALM3):c.1727C>T (p.Pro576Leu)	PALM3 (P576L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304136	NM_001145028.2(PALM3):c.1709T>A (p.Met570Lys)	PALM3 (M504K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224682	NM_001145028.2(PALM3):c.1646C>T (p.Thr549Met)	PALM3 (T483M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264005	NM_001145028.2(PALM3):c.1600A>G (p.Lys534Glu)	PALM3 (K468E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551232	NM_001145028.2(PALM3):c.1511A>G (p.Glu504Gly)	PALM3 (E504G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351582	NM_001145028.2(PALM3):c.1469G>A (p.Arg490Gln)	PALM3 (R424Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208204	NM_001145028.2(PALM3):c.1385G>A (p.Arg462Lys)	PALM3 (R396K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340096	NM_001145028.2(PALM3):c.1364C>T (p.Ala455Val)	PALM3 (A455V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208203	NM_001145028.2(PALM3):c.1331A>G (p.Glu444Gly)	PALM3 (E378G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608048	NM_001145028.2(PALM3):c.1277G>C (p.Gly426Ala)	PALM3 (G360A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208202	NM_001145028.2(PALM3):c.1240G>A (p.Glu414Lys)	PALM3 (E348K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569652	NM_001145028.2(PALM3):c.1238C>T (p.Ala413Val)	PALM3 (A347V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481799	NM_001145028.2(PALM3):c.1213A>G (p.Thr405Ala)	PALM3 (T339A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208201	NM_001145028.2(PALM3):c.1207G>A (p.Glu403Lys)	PALM3 (E403K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404402	NM_001145028.2(PALM3):c.1196C>T (p.Thr399Met)	PALM3 (T333M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208200	NM_001145028.2(PALM3):c.1130A>T (p.Glu377Val)	PALM3 (E377V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208688	NM_001145028.2(PALM3):c.938T>C (p.Val313Ala)	PALM3 (V247A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265876	NM_001145028.2(PALM3):c.931C>T (p.Pro311Ser)	PALM3 (P245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603180	NM_001145028.2(PALM3):c.881A>T (p.Glu294Val)	PALM3 (E294V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282945	NM_001145028.2(PALM3):c.865G>A (p.Val289Met)	PALM3 (V223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316761	NM_001145028.2(PALM3):c.847A>G (p.Lys283Glu)	PALM3 (K217E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304143	NM_001145028.2(PALM3):c.818C>G (p.Ala273Gly)	PALM3 (A207G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304135	NM_001145028.2(PALM3):c.793G>A (p.Glu265Lys)	PALM3 (E199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337495	NM_001145028.2(PALM3):c.694G>A (p.Val232Met)	PALM3 (V232M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231913	NM_001145028.2(PALM3):c.684A>C (p.Lys228Asn)	PALM3 (K162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208209	NM_001145028.2(PALM3):c.668G>A (p.Arg223Gln)	PALM3 (R157Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508001	NM_001145028.2(PALM3):c.667C>T (p.Arg223Trp)	PALM3 (R157W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789243	NM_001145028.2(PALM3):c.611G>T (p.Ser204Ile)	PALM3 (S204I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2382952	NM_001145028.2(PALM3):c.608C>T (p.Pro203Leu)	PALM3 (P137L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304140	NM_001145028.2(PALM3):c.574G>C (p.Ala192Pro)	PALM3 (A126P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335365	NM_001145028.2(PALM3):c.568G>A (p.Gly190Arg)	PALM3 (G124R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622618	NM_001145028.2(PALM3):c.560A>G (p.Gln187Arg)	PALM3 (Q121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274576	NM_001145028.2(PALM3):c.554C>T (p.Pro185Leu)	PALM3 (P119L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208208	NM_001145028.2(PALM3):c.497C>T (p.Thr166Met)	PALM3 (T100M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304137	NM_001145028.2(PALM3):c.440C>T (p.Ser147Phe)	PALM3 (S81F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304144	NM_001145028.2(PALM3):c.409C>G (p.Pro137Ala)	PALM3 (P137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622533	NM_001145028.2(PALM3):c.308T>G (p.Leu103Trp)	PALM3 (L103W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359448	NM_001145028.2(PALM3):c.304A>G (p.Ser102Gly)	PALM3 (S36G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304138	NM_001145028.2(PALM3):c.288C>G (p.Ile96Met)	PALM3 (I30M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553100	NM_001145028.2(PALM3):c.275C>G (p.Ala92Gly)	PALM3 (A92G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304141	NM_001145028.2(PALM3):c.273G>C (p.Gln91His)	PALM3 (Q25H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404013	NM_001145028.2(PALM3):c.265G>A (p.Glu89Lys)	PALM3 (E89K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208205	NM_001145028.2(PALM3):c.181C>T (p.Leu61Phe)	PALM3 (L61F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208212	NM_001145028.2(PALM3):c.130C>G (p.Arg44Gly)	PALM3 (R44G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554923	NM_001145028.2(PALM3):c.124G>A (p.Ala42Thr)	PALM3 (A42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208210	NM_001145028.2(PALM3):c.118C>T (p.Arg40Cys)	PALM3 (R40C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304142	NM_001145028.2(PALM3):c.50C>A (p.Ala17Glu)	PALM3 (A17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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: 70