9752[HGNC] - ClinVar - NCBI

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	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 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	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 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	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 348137	NM_000320.3(QDPR):c.*690A>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency +1 more	GBenign
Select item 348138	NM_000320.3(QDPR):c.*682A>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency +1 more	GBenign
Select item 348139	NM_000320.3(QDPR):c.*622T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 900816	NM_000320.3(QDPR):c.*612T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348140	NM_000320.3(QDPR):c.*568T>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348141	NM_000320.3(QDPR):c.*510C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348142	NM_000320.3(QDPR):c.*468A>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348143	NM_000320.3(QDPR):c.*450T>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348144	NM_000320.3(QDPR):c.*408C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348145	NM_000320.3(QDPR):c.*403A>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 902489	NM_000320.3(QDPR):c.*374G>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348146	NM_000320.3(QDPR):c.*329T>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348147	NM_000320.3(QDPR):c.*278G>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 903353	NM_000320.3(QDPR):c.*277T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348148	NM_000320.3(QDPR):c.*246del	QDPR	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348150	NM_000320.3(QDPR):c.220_221inv	QDPR	Inversion (3 prime UTR variant +1 more)	BH4-Deficient Hyperphenylalaninemia	GUncertain significance
Select item 348149	NM_000320.3(QDPR):c.*221G>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348151	NM_000320.3(QDPR):c.*220T>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency +1 more	GBenign
Select item 903354	NM_000320.3(QDPR):c.*187A>C	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 903355	NM_000320.3(QDPR):c.*103C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 899738	NM_000320.3(QDPR):c.*46C>A	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 348152	NM_000320.3(QDPR):c.*31C>T	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 348153	NM_000320.3(QDPR):c.11_12del	QDPR	Deletion (3 prime UTR variant +1 more)	BH4-Deficient Hyperphenylalaninemia	GUncertain significance
Select item 3043347	NM_000320.3(QDPR):c.*6A>G	QDPR	Single nucleotide variant (3 prime UTR variant +1 more)	QDPR-related disorder	GLikely benign
Select item 1496349	NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys)	QDPR (Y212C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2741403	NM_000320.3(QDPR):c.720C>A (p.Thr240=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1936576	NM_000320.3(QDPR):c.717C>T (p.Leu239=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2901520	NM_000320.3(QDPR):c.711G>A (p.Thr237=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1492932	NM_000320.3(QDPR):c.689T>C (p.Val230Ala)	QDPR (V199A +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2766426	NM_000320.3(QDPR):c.681A>C (p.Leu227=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1979688	NM_000320.3(QDPR):c.668G>A (p.Ser223Asn)	QDPR (S223N +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2901868	NM_000320.3(QDPR):c.666G>A (p.Pro222=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 954325	NM_000320.3(QDPR):c.662G>A (p.Arg221Gln)	QDPR (R221Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 802058	NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)	QDPR (R190* +1 more)	Single nucleotide variant (nonsense +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 3150296	NM_000320.3(QDPR):c.658A>C (p.Asn220His)	QDPR (N189H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1351801	NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup)	QDPR	Duplication (inframe_insertion +1 more)	Dihydropteridine reductase deficiency +1 more	GUncertain significance
Select item 1453021	NM_000320.3(QDPR):c.644G>A (p.Trp215Ter)	QDPR (W215* +1 more)	Single nucleotide variant (nonsense +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2080992	NM_000320.3(QDPR):c.642C>T (p.Asp214=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2848418	NM_000320.3(QDPR):c.639T>C (p.His213=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1635804	NM_000320.3(QDPR):c.636C>T (p.Phe212=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2775915	NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)	QDPR (F181S +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GLikely pathogenic
Select item 571689	NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr)	QDPR (F212Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2783290	NM_000320.3(QDPR):c.630-4C>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2845180	NM_000320.3(QDPR):c.630-14A>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1634985	NM_000320.3(QDPR):c.630-15T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 518352	NM_000320.3(QDPR):c.630-17T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GBenign
Select item 2883018	NM_000320.3(QDPR):c.630-19C>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2417610	NM_000320.3(QDPR):c.630-20dup	QDPR	Duplication (intron variant)	Dihydropteridine reductase deficiency	GBenign
Select item 2997348	NM_000320.3(QDPR):c.630-20A>T	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2803927	NM_000320.3(QDPR):c.630-23_630-20del	QDPR	Deletion (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1572760	NM_000320.3(QDPR):c.630-20A>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1568770	NM_000320.3(QDPR):c.630-20del	QDPR	Deletion (intron variant)	Dihydropteridine reductase deficiency	GBenign
Select item 1279118	NM_000320.3(QDPR):c.630-46A>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287411	NM_000320.3(QDPR):c.630-91C>T	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257842	NM_000320.3(QDPR):c.630-144A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214483	NM_000320.3(QDPR):c.629+237C>T	QDPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254079	NM_000320.3(QDPR):c.629+140A>G	QDPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1555698	NM_000320.3(QDPR):c.629+18G>A	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1658457	NM_000320.3(QDPR):c.629+17T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2876034	NM_000320.3(QDPR):c.629+16A>G	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1950533	NM_000320.3(QDPR):c.629+11_629+12del	QDPR	Deletion (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1137524	NM_000320.3(QDPR):c.629+9T>C	QDPR	Single nucleotide variant (intron variant)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2807160	NM_000320.3(QDPR):c.629+2T>C	QDPR	Single nucleotide variant (splice donor variant)	Dihydropteridine reductase deficiency	GPathogenic
Select item 1578396	NM_000320.3(QDPR):c.624A>G (p.Leu208=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1127959	NM_000320.3(QDPR):c.621C>T (p.Phe207=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2879589	NM_000320.3(QDPR):c.618A>G (p.Glu206=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1458840	NM_000320.3(QDPR):c.614T>G (p.Leu205Ter)	QDPR (L174* +1 more)	Single nucleotide variant (nonsense +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2830854	NM_000320.3(QDPR):c.612C>T (p.Pro204=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2734651	NM_000320.3(QDPR):c.609dup (p.Pro204fs)	QDPR (P204fs +1 more)	Duplication (frameshift variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 1662356	NM_000320.3(QDPR):c.603C>T (p.Ser201=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1003665	NM_000320.3(QDPR):c.600C>G (p.Ser200Arg)	QDPR (S169R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 348154	NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)	QDPR (E196D +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2057412	NM_000320.3(QDPR):c.580A>G (p.Met194Val)	QDPR (M163V +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 1374068	NM_000320.3(QDPR):c.578C>T (p.Ser193Leu)	QDPR (S162L +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2868538	NM_000320.3(QDPR):c.576A>G (p.Lys192=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 2757447	NM_000320.3(QDPR):c.576del (p.Lys192fs)	QDPR (K192fs +1 more)	Deletion (frameshift variant +1 more)	Dihydropteridine reductase deficiency	GPathogenic
Select item 2188568	NM_000320.3(QDPR):c.564G>A (p.Pro188=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1389804	NM_000320.3(QDPR):c.563C>T (p.Pro188Leu)	QDPR (P157L +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2883228	NM_000320.3(QDPR):c.561C>T (p.Thr187=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign
Select item 1378300	NM_000320.3(QDPR):c.560C>A (p.Thr187Asn)	QDPR (T156N +1 more)	Single nucleotide variant (missense variant +1 more)	Dihydropteridine reductase deficiency	GUncertain significance
Select item 2846215	NM_000320.3(QDPR):c.558T>C (p.Asp186=)	QDPR	Single nucleotide variant (synonymous variant +1 more)	Dihydropteridine reductase deficiency	GLikely benign

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