33274[HGNC] - ClinVar

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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

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Items: 70