ClinVar for Gene (Select 55111) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215123	NM_018049.3(PLEKHJ1):c.434G>A (p.Ser145Asn)	PLEKHJ1 (S145N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215122	NM_018049.3(PLEKHJ1):c.398A>G (p.Gln133Arg)	PLEKHJ1 (Q133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215121	NM_018049.3(PLEKHJ1):c.157G>A (p.Ala53Thr)	LOC130063036, PLEKHJ1 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062390	GRCh37/hg19 19p13.3(chr19:2123255-2258285)x3	DOT1L, JSRP1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2648968	NM_032482.3(DOT1L):c.*789G>A	DOT1L, PLEKHJ1 (P139L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2569106	NM_018049.3(PLEKHJ1):c.403G>A (p.Gly135Ser)	PLEKHJ1 (G135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461050	NM_018049.3(PLEKHJ1):c.446C>T (p.Ala149Val)	PLEKHJ1 (A149V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2411282	NM_018049.3(PLEKHJ1):c.332T>C (p.Met111Thr)	PLEKHJ1 (M111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353767	NM_018049.3(PLEKHJ1):c.361G>A (p.Glu121Lys)	PLEKHJ1 (E121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351194	NM_018049.3(PLEKHJ1):c.412G>A (p.Glu138Lys)	PLEKHJ1 (E138K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325301	NM_018049.3(PLEKHJ1):c.265G>C (p.Glu89Gln)	PLEKHJ1 (E89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309567	NM_018049.3(PLEKHJ1):c.23T>C (p.Leu8Pro)	LOC130063036, PLEKHJ1 (L8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1341199	GRCh37/hg19 19p13.3(chr19:1973753-2380699)x3	AMH, AP3D1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	SMIM24, SPPL2B +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41