DHPS[gene] - ClinVar

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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 provided +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

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Items: 78