112817[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 1263263	NC_000010.11:g.97584164G>A	HOGA1	Single nucleotide variant	not provided	GBenign
Select item 1204625	NC_000010.11:g.97584318A>G	HOGA1	Single nucleotide variant	not provided	GLikely benign
Select item 301787	NM_138413.4(HOGA1):c.-279G>A	HOGA1	Single nucleotide variant (5 prime UTR variant)	Primary hyperoxaluria type 3 +1 more	GBenign/Likely benign
Select item 877104	NM_138413.4(HOGA1):c.-224G>A	HOGA1	Single nucleotide variant (5 prime UTR variant)	Primary hyperoxaluria type 3	GUncertain significance
Select item 1369845	NM_138413.4(HOGA1):c.2T>G (p.Met1Arg)	HOGA1 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2664379	NM_138413.4(HOGA1):c.3G>A (p.Met1Ile)	HOGA1 (M1I)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria type 3	GPathogenic
Select item 1452928	NM_138413.4(HOGA1):c.3G>T (p.Met1Ile)	HOGA1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 593936	NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)	HOGA1 (P4fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1612844	NM_138413.4(HOGA1):c.9T>C (p.Gly3=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761567	NM_138413.4(HOGA1):c.18C>T (p.Val6=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664384	NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser)	HOGA1 (W7S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GUncertain significance
Select item 555721	NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del)	HOGA1 (S9del)	Microsatellite (inframe_deletion)	Primary hyperoxaluria type 3	GUncertain significance
Select item 1606754	NM_138413.4(HOGA1):c.30G>A (p.Val10=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968283	NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser)	HOGA1 (R11S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 796141	NM_138413.4(HOGA1):c.33G>A (p.Arg11=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540410	NM_138413.4(HOGA1):c.39G>T (p.Gly13=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301788	NM_138413.4(HOGA1):c.39G>A (p.Gly13=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2664392	NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)	HOGA1 (L14Q)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GUncertain significance
Select item 1540619	NM_138413.4(HOGA1):c.42A>G (p.Leu14=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577195	NM_138413.4(HOGA1):c.51C>T (p.Ser17=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980124	NM_138413.4(HOGA1):c.54G>A (p.Leu18=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791651	NM_138413.4(HOGA1):c.63T>C (p.Asn21=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 840938	NM_138413.4(HOGA1):c.64G>A (p.Val22Met)	HOGA1 (V22M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529062	NM_138413.4(HOGA1):c.66G>A (p.Val22=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070213	NM_138413.4(HOGA1):c.70del (p.Val24fs)	HOGA1 (V24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2831553	NM_138413.4(HOGA1):c.69G>A (p.Gly23=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 848856	NM_138413.4(HOGA1):c.75G>A (p.Trp25Ter)	HOGA1 (W25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2391657	NM_138413.4(HOGA1):c.80C>T (p.Ser27Leu)	HOGA1 (S27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1565428	NM_138413.4(HOGA1):c.81A>G (p.Ser27=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664401	NM_138413.4(HOGA1):c.85G>T (p.Glu29Ter)	HOGA1 (E29*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria type 3	GPathogenic
Select item 3106468	NM_138413.4(HOGA1):c.88G>A (p.Gly30Arg)	HOGA1 (G30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389068	NM_138413.4(HOGA1):c.89G>T (p.Gly30Val)	HOGA1 (G30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1540210	NM_138413.4(HOGA1):c.90G>A (p.Gly30=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 550439	NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)	HOGA1 (K32del)	Microsatellite (inframe_deletion)	Primary hyperoxaluria type 3	GUncertain significance
Select item 2664409	NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)	HOGA1 (I35V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GUncertain significance
Select item 374532	NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr)	HOGA1 (A36T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 204265	NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)	HOGA1 (A36V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1125962	NM_138413.4(HOGA1):c.108G>A (p.Ala36=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664413	NM_138413.4(HOGA1):c.110G>A (p.Gly37Asp)	HOGA1 (G37D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GPathogenic
Select item 554893	NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)	HOGA1 (G37V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GConflicting classifications of pathogenicity
Select item 1111952	NM_138413.4(HOGA1):c.111T>C (p.Gly37=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082024	NM_138413.4(HOGA1):c.114C>T (p.Ile38=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 652071	NM_138413.4(HOGA1):c.122_135del (p.Pro41fs)	HOGA1 (P41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 558178	NM_138413.4(HOGA1):c.122dup (p.Val42fs)	HOGA1 (V42fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2664414	NM_138413.4(HOGA1):c.122del (p.Pro41fs)	HOGA1 (P41fs)	Deletion (frameshift variant)	Primary hyperoxaluria type 3	GLikely pathogenic
Select item 2067408	NM_138413.4(HOGA1):c.117C>T (p.Tyr39=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204268	NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter)	HOGA1 (Y39*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1342818	NM_138413.4(HOGA1):c.119C>A (p.Pro40His)	HOGA1 (P40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591832	NM_138413.4(HOGA1):c.122_123del (p.Pro41fs)	HOGA1 (P41fs)	Deletion (frameshift variant)	Primary hyperoxaluria type 3	GLikely pathogenic
Select item 522533	NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)	HOGA1	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 748994	NM_138413.4(HOGA1):c.129C>T (p.Thr43=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997237	NM_138413.4(HOGA1):c.132C>T (p.Thr44=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989900	NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala)	HOGA1 (P45A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 877105	NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg)	HOGA1 (P45R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204266	NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu)	HOGA1 (P45L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 862201	NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro)	HOGA1 (T47P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 877106	NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp)	HOGA1 (E51D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GUncertain significance
Select item 204287	NM_138413.4(HOGA1):c.158del (p.Asp53fs)	HOGA1 (D53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2840151	NM_138413.4(HOGA1):c.162T>C (p.Tyr54=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965578	NM_138413.4(HOGA1):c.165G>T (p.Gly55=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622825	NM_138413.4(HOGA1):c.165G>A (p.Gly55=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843234	NM_138413.4(HOGA1):c.168A>G (p.Lys56=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575459	NM_138413.4(HOGA1):c.169C>T (p.Leu57=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091161	NM_138413.4(HOGA1):c.174G>A (p.Glu58=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117688	NM_138413.4(HOGA1):c.179del (p.Asn60fs)	HOGA1 (N60fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2768338	NM_138413.4(HOGA1):c.180T>C (p.Asn60=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664380	NM_138413.4(HOGA1):c.186_187del (p.His62fs)	HOGA1 (H62fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria type 3	GPathogenic
Select item 301789	NM_138413.4(HOGA1):c.185A>T (p.His62Leu)	HOGA1 (H62L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1070518	NM_138413.4(HOGA1):c.189del (p.Lys63fs)	HOGA1 (K63fs)	Deletion (frameshift variant)	Primary hyperoxaluria type 3 +1 more	GPathogenic/Likely pathogenic
Select item 2538041	NM_138413.4(HOGA1):c.190C>G (p.Leu64Val)	HOGA1 (L64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239672	NM_138413.4(HOGA1):c.204dup (p.Phe69fs)	HOGA1 (F69fs)	Duplication (frameshift variant)	Primary hyperoxaluria type 3	GLikely pathogenic
Select item 2664092	NM_138413.4(HOGA1):c.200T>G (p.Phe67Cys)	HOGA1 (F67C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GUncertain significance
Select item 2764302	NM_138413.4(HOGA1):c.201C>T (p.Phe67=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664381	NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys)	HOGA1 (F69C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GLikely pathogenic
Select item 1669867	NM_138413.4(HOGA1):c.207C>T (p.Phe69=)	HOGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204269	NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)	HOGA1 (R70*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria type 3 +1 more	GPathogenic
Select item 2375402	NM_138413.4(HOGA1):c.209G>A (p.Arg70Gln)	HOGA1 (R70Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 33	NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)	HOGA1 (R70P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2432522	NM_138413.4(HOGA1):c.211+4A>G	HOGA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1568302	NM_138413.4(HOGA1):c.211+12T>G	HOGA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912611	NM_138413.4(HOGA1):c.211+14T>G	HOGA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740636	NM_138413.4(HOGA1):c.211+15C>T	HOGA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995105	NM_138413.4(HOGA1):c.211+20G>C	HOGA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917389	NM_138413.4(HOGA1):c.211+20G>A	HOGA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871490	NM_138413.4(HOGA1):c.211+20G>T	HOGA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921193	NM_138413.4(HOGA1):c.211+5280G>T	C10orf62, HOGA1 (K99N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2397869	NM_001009997.3(C10orf62):c.539A>C (p.Lys180Thr)	C10orf62, HOGA1 (K180T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1278687	NM_138413.4(HOGA1):c.212-339A>T	HOGA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204254	NM_138413.4(HOGA1):c.212-21A>G	HOGA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1976672	NM_138413.4(HOGA1):c.212-9C>G	HOGA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301790	NM_138413.4(HOGA1):c.212-6T>C	HOGA1	Single nucleotide variant (intron variant)	Primary hyperoxaluria type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2664382	NM_138413.4(HOGA1):c.212-1G>A	HOGA1	Single nucleotide variant (splice acceptor variant +1 more)	Primary hyperoxaluria type 3	GLikely pathogenic
Select item 2664099	NM_138413.4(HOGA1):c.212G>T (p.Gly71Val)	HOGA1 (G71V)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria type 3	GLikely pathogenic
Select item 2047591	NM_138413.4(HOGA1):c.213C>T (p.Gly71=)	HOGA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 795333	NM_138413.4(HOGA1):c.216C>T (p.Phe72=)	HOGA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2753716	NM_138413.4(HOGA1):c.221T>C (p.Val74Ala)	HOGA1 (V74A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 204267	NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)	HOGA1 (V74G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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