H6PD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 402919	NM_004285.3(H6PD):c.-7_1delCCCAGGCA	H6PD	Microsatellite	not specified +1 more	GBenign
Select item 2350053	NM_004285.4(H6PD):c.31T>G (p.Leu11Val)	H6PD (L11V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1970612	NM_004285.4(H6PD):c.80C>T (p.Ser27Phe)	H6PD (S27F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521468	NM_004285.4(H6PD):c.127T>C (p.Trp43Arg)	H6PD (W54R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777319	NM_004285.4(H6PD):c.186C>T (p.Phe62=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3104050	NM_004285.4(H6PD):c.209C>T (p.Pro70Leu)	H6PD (P70L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2017864	NM_004285.4(H6PD):c.217G>C (p.Gly73Arg)	H6PD (G73R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730928	NM_004285.4(H6PD):c.255C>T (p.Ser85=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2286175	NM_004285.4(H6PD):c.302A>C (p.Gln101Pro)	H6PD (Q101P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225378	NM_004285.4(H6PD):c.316A>G (p.Ser106Gly)	H6PD (S106G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31587	NM_004285.4(H6PD):c.325del (p.Arg109fs)	H6PD (R120fs +1 more)	Deletion (frameshift variant)	Cortisone reductase deficiency 1	GPathogenic
Select item 1390033	NM_004285.4(H6PD):c.326G>A (p.Arg109His)	H6PD (R120H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1612341	NM_004285.4(H6PD):c.342C>T (p.Ala114=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2152753	NM_004285.4(H6PD):c.343G>A (p.Glu115Lys)	H6PD (E115K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3104053	NM_004285.4(H6PD):c.367G>T (p.Asp123Tyr)	H6PD (D123Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104054	NM_004285.4(H6PD):c.370A>G (p.Ile124Val)	H6PD (I124V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735495	NM_004285.4(H6PD):c.400C>T (p.Arg134Trp)	H6PD (R134W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1913033	NM_004285.4(H6PD):c.415A>G (p.Ile139Val)	H6PD (I139V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443977	NM_004285.4(H6PD):c.422A>G (p.Tyr141Cys)	H6PD (Y141C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1601522	NM_004285.4(H6PD):c.452A>C (p.Asp151Ala)	H6PD (D151A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283382	NM_004285.4(H6PD):c.460C>T (p.Arg154Cys)	H6PD (R165C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757401	NM_004285.4(H6PD):c.516T>C (p.Leu172=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326170	NM_004285.4(H6PD):c.518A>G (p.Glu173Gly)	H6PD (E173G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645717	NM_004285.4(H6PD):c.539A>G (p.His180Arg)	H6PD (H180R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3022168	NM_004285.4(H6PD):c.628-6dup	H6PD	Duplication (intron variant)	not provided	GBenign
Select item 1987851	NM_004285.4(H6PD):c.628-6del	H6PD	Deletion (intron variant)	not provided	GBenign
Select item 1607299	NM_004285.4(H6PD):c.628-9C>G	H6PD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1405685	NM_004285.4(H6PD):c.628-9C>A	H6PD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783923	NM_004285.4(H6PD):c.628-8C>T	H6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719701	NM_004285.4(H6PD):c.628-8C>G	H6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2177024	NM_004285.4(H6PD):c.628-7C>T	H6PD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709135	NM_004285.4(H6PD):c.628-7C>G	H6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734104	NM_004285.4(H6PD):c.635C>T (p.Ala212Val)	H6PD (A223V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1269315	NM_004285.4(H6PD):c.636G>A (p.Ala212=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1 +1 more	GBenign
Select item 3020543	NM_004285.4(H6PD):c.652C>T (p.Arg218Ter)	H6PD (R218* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 787733	NM_004285.4(H6PD):c.653G>A (p.Arg218Gln)	H6PD (R218Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 736310	NM_004285.4(H6PD):c.664C>T (p.Arg222Cys)	H6PD (R222C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 785928	NM_004285.4(H6PD):c.678C>T (p.Asp226=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777320	NM_004285.4(H6PD):c.679G>A (p.Gly227Ser)	H6PD (G238S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3283384	NM_004285.4(H6PD):c.691C>T (p.Arg231Trp)	H6PD (R231W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136736	NM_004285.4(H6PD):c.692G>A (p.Arg231Gln)	H6PD (R242Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3104055	NM_004285.4(H6PD):c.715A>T (p.Ile239Phe)	H6PD (I250F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234281	NM_004285.4(H6PD):c.718A>G (p.Ile240Val)	H6PD (I240V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 793462	NM_004285.4(H6PD):c.732C>T (p.Thr244=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728540	NM_004285.4(H6PD):c.732C>A (p.Thr244=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288974	NM_004285.4(H6PD):c.741T>C (p.Ala247=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1 +1 more	GBenign
Select item 3022974	NM_004285.4(H6PD):c.745+19G>A	H6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 191261	NM_004285.4(H6PD):c.745+88T>A	H6PD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1678444	NM_004285.4(H6PD):c.746-4631C>T	H6PD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2196979	NM_004285.4(H6PD):c.748C>T (p.Arg250Cys)	H6PD (R250C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147539	NM_004285.4(H6PD):c.749G>A (p.Arg250His)	H6PD (R250H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379928	NM_004285.4(H6PD):c.751A>G (p.Thr251Ala)	H6PD (T251A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 732187	NM_004285.4(H6PD):c.771C>T (p.Tyr257=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361435	NM_004285.4(H6PD):c.781C>T (p.Arg261Cys)	H6PD (R261C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1640539	NM_004285.4(H6PD):c.783C>T (p.Arg261=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2083200	NM_004285.4(H6PD):c.786C>T (p.Asp262=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516394	NM_004285.4(H6PD):c.787G>A (p.Val263Ile)	H6PD (V263I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726659	NM_004285.4(H6PD):c.822C>T (p.Leu274=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416557	NM_004285.4(H6PD):c.871C>T (p.Arg291Trp)	H6PD (R291W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2562406	NM_004285.4(H6PD):c.896C>T (p.Ala299Val)	H6PD (A299V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696989	NM_004285.4(H6PD):c.901C>T (p.Arg301Trp)	H6PD (R301W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714450	NM_004285.4(H6PD):c.902G>A (p.Arg301Gln)	H6PD (R312Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903444	NM_004285.4(H6PD):c.906C>T (p.Gly302=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395258	NM_004285.4(H6PD):c.913A>G (p.Arg305Gly)	H6PD (R305G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923091	NM_004285.4(H6PD):c.916G>A (p.Gly306Ser)	H6PD (G306S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1591096	NM_004285.4(H6PD):c.924C>T (p.Ala308=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780762	NM_004285.4(H6PD):c.927C>T (p.Val309=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2485723	NM_004285.4(H6PD):c.928G>A (p.Val310Met)	H6PD (V310M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104057	NM_004285.4(H6PD):c.935A>G (p.Gln312Arg)	H6PD (Q312R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 31586	NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter)	H6PD (Y316* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 31584	NM_004285.4(H6PD):c.960G>A (p.Val320=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1	GPathogenic
Select item 717436	NM_004285.4(H6PD):c.961C>T (p.Arg321Cys)	H6PD (R321C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2079445	NM_004285.4(H6PD):c.1001C>T (p.Thr334Met)	H6PD (T334M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773105	NM_004285.4(H6PD):c.1004C>T (p.Pro335Leu)	H6PD (P335L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783924	NM_004285.4(H6PD):c.1011C>T (p.Phe337=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2544647	NM_004285.4(H6PD):c.1012G>A (p.Ala338Thr)	H6PD (A338T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2812829	NM_004285.4(H6PD):c.1015+7C>T	H6PD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987826	NM_004285.4(H6PD):c.1016-19T>C	H6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2412332	NM_004285.4(H6PD):c.1018G>A (p.Val340Ile)	H6PD (V340I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1950376	NM_004285.4(H6PD):c.1039C>T (p.Leu347Phe)	H6PD (L347F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418223	NM_004285.4(H6PD):c.1043G>A (p.Arg348His)	H6PD (R359H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791775	NM_004285.4(H6PD):c.1053C>T (p.Gly351=)	H6PD	Single nucleotide variant (synonymous variant)	Cortisone reductase deficiency 1 +1 more	GBenign/Likely benign

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