ClinVar for Gene (Select 23338) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287106	NM_001388185.1(JADE2):c.607G>A (p.Asp203Asn)	JADE2 (D219N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287105	NM_001388185.1(JADE2):c.2456G>A (p.Arg819Gln)	JADE2 (R775Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287104	NM_001388185.1(JADE2):c.2422G>C (p.Glu808Gln)	JADE2 (E808Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287103	NM_001388185.1(JADE2):c.1988C>G (p.Thr663Arg)	JADE2 (T662R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3112091	NM_001388185.1(JADE2):c.304G>C (p.Val102Leu)	JADE2 (V118L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112089	NM_001388185.1(JADE2):c.2321G>A (p.Gly774Glu)	JADE2 (G774E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112088	NM_001388185.1(JADE2):c.2197G>A (p.Ala733Thr)	JADE2 (A732T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112086	NM_001388185.1(JADE2):c.2081G>A (p.Arg694Gln)	JADE2 (R650Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112085	NM_001388185.1(JADE2):c.1762A>G (p.Asn588Asp)	JADE2 (N545D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684432	GRCh37/hg19 5q31.1(chr5:133713529-134383753)x3	C5orf24, CAMLG +10 more	Copy number gain	not provided	GUncertain significance
Select item 2596021	NM_001388185.1(JADE2):c.2257C>T (p.Arg753Trp)	JADE2 (R710W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589430	NM_001388185.1(JADE2):c.1037G>A (p.Arg346Gln)	JADE2 (R362Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557539	NM_001388185.1(JADE2):c.2051A>G (p.Gln684Arg)	JADE2 (Q640R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546424	NM_001388185.1(JADE2):c.1988C>T (p.Thr663Met)	JADE2 (T662M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537826	NM_001388185.1(JADE2):c.2482C>T (p.Arg828Cys)	JADE2 (R784C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526067	NM_001388185.1(JADE2):c.1984C>T (p.Arg662Trp)	JADE2 (R619W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510186	NM_001388185.1(JADE2):c.2475G>C (p.Glu825Asp)	JADE2 (E782D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508900	NM_001388185.1(JADE2):c.2149C>T (p.Pro717Ser)	JADE2 (P673S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2478735	NM_001388185.1(JADE2):c.1206G>T (p.Glu402Asp)	JADE2 (E402D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412014	NM_001388185.1(JADE2):c.1262A>T (p.Glu421Val)	JADE2 (E421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403452	NM_001388185.1(JADE2):c.1499A>G (p.Gln500Arg)	JADE2 (Q500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393759	NM_001388185.1(JADE2):c.2353G>A (p.Val785Ile)	JADE2 (V741I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382172	NM_001388185.1(JADE2):c.2174C>T (p.Pro725Leu)	JADE2 (P725L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368310	NM_001388185.1(JADE2):c.1042A>G (p.Ile348Val)	JADE2 (I348V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362223	NM_001388185.1(JADE2):c.988G>A (p.Val330Ile)	JADE2 (V346I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361822	NM_001388185.1(JADE2):c.2252G>A (p.Arg751Gln)	JADE2 (R750Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359149	NM_001388185.1(JADE2):c.1915C>G (p.Arg639Gly)	JADE2 (R596G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357729	NM_001388185.1(JADE2):c.2179G>A (p.Glu727Lys)	JADE2 (E684K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338474	NM_001388185.1(JADE2):c.2121C>A (p.Asp707Glu)	JADE2 (D663E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301933	NM_001388185.1(JADE2):c.1982C>T (p.Ser661Leu)	JADE2 (S660L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294247	NM_001388185.1(JADE2):c.1807G>A (p.Asp603Asn)	JADE2 (D560N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278012	NM_001388185.1(JADE2):c.1475C>A (p.Thr492Lys)	JADE2 (T508K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235112	NM_001388185.1(JADE2):c.455C>T (p.Ser152Leu)	JADE2 (S152L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227985	NM_001388185.1(JADE2):c.2483G>A (p.Arg828His)	JADE2 (R844H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221536	NM_001388185.1(JADE2):c.1899C>A (p.Asp633Glu)	JADE2 (D589E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212326	NM_001388185.1(JADE2):c.280G>A (p.Gly94Arg)	JADE2 (G110R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696593	NM_001388185.1(JADE2):c.1644dup (p.Val549fs)	JADE2 (V549fs +1 more)	Duplication (frameshift variant +1 more)	JADE2-associated Neurodevelopmental Disorder	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 783447	NM_001388185.1(JADE2):c.395C>T (p.Pro132Leu)	JADE2 (P148L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395216	GRCh37/hg19 5q31.1(chr5:133871536-134010717)x1	JADE2, SAR1B +1 more	Copy number loss	See cases	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58362	GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1	C5orf15, C5orf24 +100 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 59