LOC129992304[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 150333	GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1	ADGRA3, CLRN2 +60 more	Copy number loss	See cases	GUncertain significance
Select item 1242685	NM_000320.3(QDPR):c.105+115T>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294083	NM_000320.3(QDPR):c.105+74del	LOC129992304, QDPR	Deletion (intron variant)	not provided	GBenign
Select item 2750783	NM_000320.3(QDPR):c.105+20C>G	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 445851	NM_000320.3(QDPR):c.105+17G>A	LOC129992304, QDPR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2821342	NM_000320.3(QDPR):c.105+16G>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2750784	NM_000320.3(QDPR):c.105+15T>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2725287	NM_000320.3(QDPR):c.105+14C>T	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2819032	NM_000320.3(QDPR):c.105+13G>A	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1904721	NM_000320.3(QDPR):c.105+13G>T	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2920247	NM_000320.3(QDPR):c.105+11G>C	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1938429	NM_000320.3(QDPR):c.105+10C>G	LOC129992304, QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2631990	NM_000320.3(QDPR):c.105+2T>A	QDPR, LOC129992304	Single nucleotide variant (splice donor variant)	Dihydropteridine reductase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1324981	NM_000320.3(QDPR):c.105+1G>A	LOC129992304, QDPR	Single nucleotide variant (splice donor variant)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 2780038	NM_000320.3(QDPR):c.105G>C (p.Trp35Cys)	LOC129992304, QDPR (W35C)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 1566557	NM_000320.3(QDPR):c.102C>T (p.Asn34=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 286391	NM_000320.3(QDPR):c.96C>T (p.Ala32=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2759024	NM_000320.3(QDPR):c.92G>C (p.Arg31Pro)	LOC129992304, QDPR (R31P)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 1371817	NM_000320.3(QDPR):c.91C>T (p.Arg31Trp)	LOC129992304, QDPR (R31W)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2749877	NM_000320.3(QDPR):c.90T>C (p.Phe30=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1959959	NM_000320.3(QDPR):c.81G>T (p.Val27=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1678544	NM_000320.3(QDPR):c.79G>T (p.Val27Leu)	LOC129992304, QDPR (V27L)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 449241	NM_000320.3(QDPR):c.79G>A (p.Val27Met)	LOC129992304, QDPR (V27M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2712753	NM_000320.3(QDPR):c.75A>C (p.Arg25=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2091215	NM_000320.3(QDPR):c.70T>G (p.Ser24Ala)	LOC129992304, QDPR (S24A)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 1462577	NM_000320.3(QDPR):c.68G>C (p.Gly23Ala)	LOC129992304, QDPR (G23A)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 490	NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)	LOC129992304, QDPR (G23D)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2128180	NM_000320.3(QDPR):c.67G>A (p.Gly23Ser)	LOC129992304, QDPR (G23S)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2087016	NM_000320.3(QDPR):c.60C>A (p.Gly20=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1963582	NM_000320.3(QDPR):c.60C>T (p.Gly20=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1008716	NM_000320.3(QDPR):c.55A>T (p.Arg19Trp)	LOC129992304, QDPR (R19W)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2730152	NM_000320.3(QDPR):c.54C>A (p.Gly18=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1413141	NM_000320.3(QDPR):c.53del (p.Gly18fs)	LOC129992304, QDPR (G18fs)	Deletion (frameshift variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2052122	NM_000320.3(QDPR):c.51C>A (p.Gly17=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 3062050	NM_000320.3(QDPR):c.49G>A (p.Gly17Ser)	QDPR, LOC129992304 (G17S)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 623325	NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)	LOC129992304, QDPR (G17R)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic/Likely pathogenic
Select item 567509	NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter)	QDPR, LOC129992304 (Y16*)	Single nucleotide variant (nonsense +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2912176	NM_000320.3(QDPR):c.45G>A (p.Val15=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 432122	NM_000320.3(QDPR):c.44T>C (p.Val15Ala)	QDPR, LOC129992304 (V15A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2771351	NM_000320.3(QDPR):c.42G>A (p.Leu14=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2721958	NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)	LOC129992304, QDPR (L14P)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2834561	NM_000320.3(QDPR):c.40C>T (p.Leu14=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2153684	NM_000320.3(QDPR):c.37G>A (p.Val13Met)	LOC129992304, QDPR (V13M)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2849838	NM_000320.3(QDPR):c.36G>C (p.Arg12=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1563576	NM_000320.3(QDPR):c.36G>A (p.Arg12=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1522142	NM_000320.3(QDPR):c.35G>A (p.Arg12Gln)	LOC129992304, QDPR (R12Q)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 1110905	NM_000320.3(QDPR):c.34C>A (p.Arg12=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 287243	NM_000320.3(QDPR):c.29C>T (p.Ala10Val)	LOC129992304, QDPR (A10V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2787717	NM_000320.3(QDPR):c.24C>G (p.Gly8=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2172059	NM_000320.3(QDPR):c.24C>T (p.Gly8=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2709878	NM_000320.3(QDPR):c.21A>C (p.Ala7=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2991492	NM_000320.3(QDPR):c.18T>G (p.Ala6=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2061910	NM_000320.3(QDPR):c.3GGC[7] (p.Ala7_Gly8insAlaAla)	LOC129992304, QDPR	Microsatellite (inframe_insertion +2 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 958406	NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup)	LOC129992304, QDPR	Microsatellite (inframe_insertion +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 745493	NM_000320.3(QDPR):c.18T>C (p.Ala6=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	QDPR-related disorder +1 more	GLikely benign
Select item 1426401	NM_000320.3(QDPR):c.3GGC[4] (p.Ala7del)	LOC129992304, QDPR (A7del)	Microsatellite (inframe_deletion +2 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2983837	NM_000320.3(QDPR):c.12G>A (p.Ala4=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2051879	NM_000320.3(QDPR):c.11C>T (p.Ala4Val)	LOC129992304, QDPR (A4V)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 998512	NM_000320.3(QDPR):c.8C>T (p.Ala3Val)	LOC129992304, QDPR (A3V)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 1389497	NM_000320.3(QDPR):c.7G>A (p.Ala3Thr)	LOC129992304, QDPR (A3T)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency +1 more	GUncertain significance
Select item 2702323	NM_000320.3(QDPR):c.6G>A (p.Ala2=)	LOC129992304, QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2157809	NM_000320.3(QDPR):c.5C>T (p.Ala2Val)	LOC129992304, QDPR (A2V)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 503646	NM_000320.3(QDPR):c.1A>T (p.Met1Leu)	LOC129992304, QDPR (M1L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 902567	NM_000320.3(QDPR):c.-17G>T	LOC129992304, QDPR	Single nucleotide variant (5 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348162	NM_000320.3(QDPR):c.-24G>T	LOC129992304, QDPR	Single nucleotide variant (5 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 348163	NM_000320.3(QDPR):c.-47C>G	LOC129992304, QDPR	Single nucleotide variant	BH4-Deficient Hyperphenylalaninemia +2 more	GBenign
Select item 348164	NM_000320.2(QDPR):c.-76delT	LOC129992304, QDPR	Deletion	BH4-Deficient Hyperphenylalaninemia	GUncertain significance
Select item 348166	NM_000320.2(QDPR):c.-81C>T	LOC129992304, QDPR	Single nucleotide variant	BH4-Deficient Hyperphenylalaninemia +1 more	GBenign
Select item 348165	NM_000320.2(QDPR):c.-81delC	LOC129992304, QDPR	Deletion	Dihydropteridine reductase deficiency +2 more	GBenign/Likely benign
Select item 348167	NM_000320.2(QDPR):c.-111G>C	LOC129992304, QDPR	Single nucleotide variant	BH4-Deficient Hyperphenylalaninemia	GUncertain significance

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Items: 86