ClinVar for Gene (Select 51398) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337986	NM_016145.4(WDR83OS):c.235C>T (p.Gln79Ter)	WDR83, WDR83OS (Q79*)	Single nucleotide variant (nonsense +2 more)	Hypercholanemia, familial	GPathogenic
Select item 3336830	NM_016145.4(WDR83OS):c.156+2T>A	WDR83, WDR83OS	Single nucleotide variant (intron variant +1 more)	Hypercholanemia, familial	GPathogenic
Select item 3336829	NM_016145.4(WDR83OS):c.50+1G>T	WDR83, WDR83OS	Single nucleotide variant (intron variant +1 more)	Hypercholanemia, familial	GPathogenic
Select item 3332975	NM_016145.4(WDR83OS):c.194T>C (p.Phe65Ser)	WDR83, WDR83OS (F65S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2983251	NM_016145.4(WDR83OS):c.255-10C>G	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2897198	NM_016145.4(WDR83OS):c.50+9C>G	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891607	NM_016145.4(WDR83OS):c.309G>A (p.Thr103=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889475	NM_016145.4(WDR83OS):c.271G>A (p.Val91Met)	WDR83, WDR83OS (V91M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884521	NM_016145.4(WDR83OS):c.115C>T (p.Leu39=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860632	NM_016145.4(WDR83OS):c.314dup (p.Trp106fs)	WDR83, WDR83OS (W106fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2577971	NM_016145.4(WDR83OS):c.255-4_260del	WDR83, WDR83OS	Deletion (splice acceptor variant +1 more)	Hypercholanemia, familial	GPathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2423225	NC_000019.9:g.(?_12768857)_(12780217_?)del	WDR83OS, MAN2B1 +1 more	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 2423224	NC_000019.9:g.(?_12757434)_(12780217_?)del	MAN2B1, WDR83 +1 more	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 2253620	NM_016145.4(WDR83OS):c.22G>C (p.Asp8His)	WDR83, WDR83OS (D8H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2168737	NM_016145.4(WDR83OS):c.8C>G (p.Thr3Ser)	WDR83, WDR83OS (T3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078051	NM_016145.4(WDR83OS):c.5C>G (p.Ser2Cys)	WDR83, WDR83OS (S2C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2044099	NM_016145.4(WDR83OS):c.85T>C (p.Leu29=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2039517	NM_016145.4(WDR83OS):c.14A>G (p.Asn5Ser)	WDR83, WDR83OS (N5S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2039025	NM_016145.4(WDR83OS):c.39C>T (p.Asn13=)	WDR83, WDR83OS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2031334	NM_016145.4(WDR83OS):c.157-19C>T	WDR83, WDR83OS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 1329852	NM_016145.4(WDR83OS):c.156+1G>T	WDR83, WDR83OS	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with seizures and speech and walking impairment +1 more	GConflicting classifications of pathogenicity
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	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 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
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 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 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 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 47