1725[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 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 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 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 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
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 2356310	NM_001099737.3(WDR83):c.529C>T (p.Arg177Cys)	DHPS, WDR83 (R177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374818	NM_001099737.3(WDR83):c.548G>A (p.Gly183Glu)	DHPS, WDR83 (G183E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488686	NM_001099737.3(WDR83):c.568G>A (p.Val190Met)	DHPS, WDR83 (V190M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332973	NM_001099737.3(WDR83):c.614G>A (p.Cys205Tyr)	DHPS, WDR83 (C205Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372718	NM_001099737.3(WDR83):c.695A>G (p.His232Arg)	DHPS, WDR83 (H232R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353762	NM_001099737.3(WDR83):c.737G>A (p.Arg246His)	DHPS, WDR83 (R246H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190299	NM_001099737.3(WDR83):c.755G>C (p.Ser252Thr)	DHPS, WDR83 (S252T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600703	NM_001099737.3(WDR83):c.755G>A (p.Ser252Asn)	DHPS, WDR83 (S252N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190300	NM_001099737.3(WDR83):c.769G>A (p.Gly257Arg)	DHPS, WDR83 (G257R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190301	NM_001099737.3(WDR83):c.818T>C (p.Leu273Pro)	DHPS, WDR83 (L273P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315437	NM_001099737.3(WDR83):c.845C>T (p.Ser282Leu)	DHPS, WDR83 (S282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376284	NM_001099737.3(WDR83):c.883G>A (p.Ala295Thr)	DHPS, WDR83 (A295T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562385	NM_001099737.3(WDR83):c.923A>G (p.Tyr308Cys)	DHPS, WDR83 (Y308C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1675722	NM_001930.4(DHPS):c.1074G>A (p.Lys358=)	DHPS (D263N +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 560196	NM_001930.4(DHPS):c.1014+1G>A	DHPS	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3082030	NM_001930.4(DHPS):c.953G>A (p.Gly318Asp)	DHPS (G135D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3366299	NM_001930.4(DHPS):c.937G>C (p.Asp313His)	DHPS (D130H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 560195	NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)	DHPS	Deletion (inframe_deletion +2 more)	Neurodevelopmental disorder with seizures and speech and walking impairment +1 more	GLikely pathogenic
Select item 3271790	NM_001930.4(DHPS):c.907G>A (p.Ala303Thr)	DHPS (A120T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2506774	NM_001930.4(DHPS):c.785-1G>C	DHPS	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2571030	NM_001930.4(DHPS):c.784+8G>T	DHPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3271787	NM_001930.4(DHPS):c.758C>T (p.Pro253Leu)	DHPS (P253L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033079	NM_001930.4(DHPS):c.657C>G (p.Ser219=)	DHPS	Single nucleotide variant (synonymous variant +1 more)	DHPS-related disorder	GBenign
Select item 2531293	NM_001930.4(DHPS):c.649C>G (p.Pro217Ala)	DHPS (P217A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035505	NM_001930.4(DHPS):c.612T>C (p.Ser204=)	DHPS	Single nucleotide variant (synonymous variant +1 more)	DHPS-related disorder	GBenign
Select item 2649342	NM_001930.4(DHPS):c.525T>C (p.Asn175=)	DHPS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 560194	NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)	DHPS (N173S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2557931	NM_001930.4(DHPS):c.498C>G (p.Ile166Met)	DHPS (I166M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552794	NM_001930.4(DHPS):c.485G>C (p.Gly162Ala)	DHPS (G120A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1448487	NM_001930.4(DHPS):c.484G>A (p.Gly162Arg)	DHPS (G162R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1702982	NM_001930.4(DHPS):c.460_461del (p.Arg154fs)	DHPS (R112fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental disorder with seizures and speech and walking impairment	GLikely pathogenic
Select item 3346458	NM_001930.4(DHPS):c.435C>T (p.Pro145=)	DHPS	Single nucleotide variant (synonymous variant +2 more)	DHPS-related disorder	GLikely benign
Select item 2349205	NM_001930.4(DHPS):c.400G>A (p.Gly134Ser)	DHPS (G134S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602061	NM_001930.4(DHPS):c.284C>G (p.Thr95Ser)	DHPS (T53S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371568	NM_001930.4(DHPS):c.272G>A (p.Arg91His)	DHPS (R49H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082029	NM_001930.4(DHPS):c.271C>T (p.Arg91Cys)	DHPS (R49C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3082028	NM_001930.4(DHPS):c.262A>T (p.Thr88Ser)	DHPS (T88S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271788	NM_001930.4(DHPS):c.254C>T (p.Ala85Val)	DHPS (A43V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1331656	NM_001930.4(DHPS):c.216_217dup (p.Lys73fs)	DHPS (K31fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2355603	NM_001930.4(DHPS):c.211G>A (p.Glu71Lys)	DHPS (E29K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3055349	NM_001930.4(DHPS):c.207+462G>A	DHPS (A6T)	Single nucleotide variant (missense variant +2 more)	DHPS-related disorder	GBenign
Select item 3367774	NM_001930.4(DHPS):c.207+449G>A	DHPS, LOC112543448 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3056608	NM_001930.4(DHPS):c.204C>T (p.Ala68=)	DHPS, LOC112543448	Single nucleotide variant (synonymous variant +2 more)	DHPS-related disorder	GBenign
Select item 2375217	NM_001930.4(DHPS):c.196G>A (p.Val66Ile)	DHPS, LOC112543448 (V66I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485246	NM_001930.4(DHPS):c.193C>G (p.Gln65Glu)	DHPS, LOC112543448 (Q65E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2649343	NM_001930.4(DHPS):c.191A>G (p.Gln64Arg)	DHPS, LOC112543448 (Q64R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3233899	NM_001930.4(DHPS):c.126C>G (p.Tyr42Ter)	DHPS, LOC112543448 (Y42*)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 3271789	NM_001930.4(DHPS):c.46G>A (p.Ala16Thr)	DHPS, LOC112543448 (A16T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1704996	NM_001930.4(DHPS):c.38C>T (p.Ala13Val)	LOC112543448, DHPS (A13V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2568461	NM_001930.4(DHPS):c.32C>G (p.Ala11Gly)	DHPS, LOC112543448 (A11G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3354413	NM_001930.4(DHPS):c.21G>A (p.Arg7=)	DHPS, LOC112543448	Single nucleotide variant (synonymous variant +2 more)	DHPS-related disorder	GLikely benign
Select item 560197	NM_001930.4(DHPS):c.1A>G (p.Met1Val)	LOC112543448, DHPS (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	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 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 78