ClinVar for Gene (Select 199699) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270851	NM_152654.3(DAND5):c.346T>G (p.Ser116Ala)	DAND5 (S116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270850	NM_152654.3(DAND5):c.256G>T (p.Ala86Ser)	DAND5 (A86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270848	NM_152654.3(DAND5):c.217G>T (p.Gly73Trp)	DAND5 (G73W)	Single nucleotide variant (missense variant)	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 3080042	NM_152654.3(DAND5):c.47C>T (p.Ala16Val)	DAND5 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080041	NM_152654.3(DAND5):c.407G>T (p.Gly136Val)	DAND5 (G136V)	Single nucleotide variant (missense variant)	not specified	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 2465306	NM_152654.3(DAND5):c.461G>A (p.Arg154His)	DAND5 (R154H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
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 2365727	NM_152654.3(DAND5):c.532A>G (p.Met178Val)	DAND5 (M178V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351573	NM_152654.3(DAND5):c.235C>T (p.Arg79Cys)	DAND5 (R79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347157	NM_152654.3(DAND5):c.313C>T (p.Pro105Ser)	DAND5 (P105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314796	NM_152654.3(DAND5):c.284A>G (p.Glu95Gly)	DAND5 (E95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704287	NM_152654.3(DAND5):c.197del (p.Leu66fs)	DAND5 (L66fs)	Deletion (frameshift variant)	Heterotaxy	GUncertain significance
Select item 1511662	NC_000019.9:g.(?_12917488)_(13205463_?)del	CALR, DAND5 +11 more	Deletion	not provided	GUncertain significance
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 1065356	NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs)	DAND5 (Y133fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	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 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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 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 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
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 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	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: 38