ClinVar for Gene (Select 10362) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284485	NM_006339.3(HMG20B):c.340A>T (p.Thr114Ser)	HMG20B (T114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3106259	NM_006339.3(HMG20B):c.733A>G (p.Thr245Ala)	HMG20B (T245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106257	NM_006339.3(HMG20B):c.149C>G (p.Pro50Arg)	HMG20B (P50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2540914	NM_006339.3(HMG20B):c.874G>A (p.Glu292Lys)	HMG20B (E292K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +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 2397480	NM_006339.3(HMG20B):c.488G>C (p.Gly163Ala)	HMG20B (G163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366347	NM_006339.3(HMG20B):c.685A>T (p.Ser229Cys)	HMG20B (S229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330665	NM_006339.3(HMG20B):c.746A>T (p.Gln249Leu)	HMG20B (Q249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300108	NM_006339.3(HMG20B):c.55G>A (p.Ala19Thr)	HMG20B (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277710	NM_006339.3(HMG20B):c.728G>T (p.Arg243Leu)	HMG20B (R243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272422	NM_006339.3(HMG20B):c.772G>A (p.Ala258Thr)	HMG20B (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268417	NM_006339.3(HMG20B):c.740C>G (p.Ala247Gly)	HMG20B (A247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238558	NM_006339.3(HMG20B):c.573G>C (p.Glu191Asp)	HMG20B (E191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231077	NM_006339.3(HMG20B):c.833G>A (p.Gly278Asp)	HMG20B (G278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686923	GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3	APBA3, ATCAY +20 more	Copy number gain	not provided	GUncertain significance
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	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	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 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +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	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39