79803[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 1234088	NC_000010.11:g.102065163C>T	HPS6, LOC130004578	Single nucleotide variant	not provided	GBenign
Select item 1234658	NC_000010.11:g.102065312G>A	HPS6, LOC130004578	Single nucleotide variant	not provided	GBenign
Select item 880395	NM_024747.6(HPS6):c.-5G>A	HPS6, LOC130004578	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 812730	NM_024747.6(HPS6):c.1A>G (p.Met1Val)	HPS6, LOC130004578 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3003734	NM_024747.6(HPS6):c.4A>T (p.Lys2Ter)	HPS6, LOC130004578 (K2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1492067	NM_024747.6(HPS6):c.7C>T (p.Arg3Cys)	HPS6, LOC130004578 (R3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558010	NM_024747.6(HPS6):c.11C>T (p.Ser4Leu)	HPS6, LOC130004578 (S4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2077948	NM_024747.6(HPS6):c.13G>A (p.Gly5Arg)	HPS6, LOC130004578 (G5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872672	NM_024747.6(HPS6):c.15G>A (p.Gly5=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353976	NM_024747.6(HPS6):c.17C>T (p.Thr6Ile)	HPS6, LOC130004578 (T6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623366	NM_024747.6(HPS6):c.19_20del (p.Leu7fs)	HPS6, LOC130004578 (L7fs)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 2994227	NM_024747.6(HPS6):c.24G>T (p.Arg8=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693547	NM_024747.6(HPS6):c.27del (p.Leu10fs)	HPS6, LOC130004578 (L10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2875469	NM_024747.6(HPS6):c.30C>T (p.Leu10=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898652	NM_024747.6(HPS6):c.30C>G (p.Leu10=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995503	NM_024747.6(HPS6):c.33G>A (p.Ser11=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918509	NM_024747.6(HPS6):c.37_38delinsGG (p.Leu13Gly)	HPS6, LOC130004578 (L13G)	Indel (missense variant)	not provided	GUncertain significance
Select item 2892950	NM_024747.6(HPS6):c.42C>T (p.Ser14=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351754	NM_024747.6(HPS6):c.43G>A (p.Ala15Thr)	HPS6, LOC130004578 (A15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3284742	NM_024747.6(HPS6):c.44C>T (p.Ala15Val)	HPS6, LOC130004578 (A15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494577	NM_024747.6(HPS6):c.44C>G (p.Ala15Gly)	HPS6, LOC130004578 (A15G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755018	NM_024747.6(HPS6):c.45C>T (p.Ala15=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083194	NM_024747.6(HPS6):c.47T>C (p.Phe16Ser)	HPS6, LOC130004578 (F16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452276	NM_024747.6(HPS6):c.60_64dup (p.Leu22fs)	HPS6, LOC130004578 (L22fs)	Microsatellite (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 2904009	NM_024747.6(HPS6):c.54C>T (p.Gly18=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1650834	NM_024747.6(HPS6):c.57G>A (p.Ala19=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169322	NM_024747.6(HPS6):c.70G>A (p.Glu24Lys)	HPS6, LOC130004578 (E24K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1652173	NM_024747.6(HPS6):c.78G>T (p.Val26=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837145	NM_024747.6(HPS6):c.87_108dup (p.Ser37fs)	HPS6, LOC130004578 (S37fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2824592	NM_024747.6(HPS6):c.89C>G (p.Ser30Ter)	HPS6, LOC130004578 (S30*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1517273	NM_024747.6(HPS6):c.89C>T (p.Ser30Leu)	HPS6, LOC130004578 (S30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411911	NM_024747.6(HPS6):c.91_92delinsTT (p.Ala31Leu)	LOC130004578, HPS6 (A31L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1498909	NM_024747.6(HPS6):c.92C>T (p.Ala31Val)	HPS6, LOC130004578 (A31V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2771676	NM_024747.6(HPS6):c.93G>T (p.Ala31=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3011863	NM_024747.6(HPS6):c.97C>T (p.Arg33Ter)	HPS6, LOC130004578 (R33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1517193	NM_024747.6(HPS6):c.97C>G (p.Arg33Gly)	LOC130004578, HPS6 (R33G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163680	NM_024747.6(HPS6):c.99A>G (p.Arg33=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6 +2 more	GBenign
Select item 1353352	NM_024747.6(HPS6):c.104G>A (p.Arg35His)	HPS6, LOC130004578 (R35H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286495	NM_024747.6(HPS6):c.105T>C (p.Arg35=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 298550	NM_024747.6(HPS6):c.112C>G (p.Pro38Ala)	HPS6, LOC130004578 (P38A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2972372	NM_024747.6(HPS6):c.117C>T (p.Asp39=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433971	NM_024747.6(HPS6):c.119G>C (p.Gly40Ala)	HPS6, LOC130004578 (G40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649790	NM_024747.6(HPS6):c.120C>T (p.Gly40=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781440	NM_024747.6(HPS6):c.135C>T (p.Leu45=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775573	NM_024747.6(HPS6):c.139_148del (p.Arg47fs)	HPS6, LOC130004578 (R47fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1960595	NM_024747.6(HPS6):c.136C>T (p.Leu46=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298551	NM_024747.6(HPS6):c.138G>A (p.Leu46=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 163681	NM_024747.6(HPS6):c.150G>A (p.Gly50=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 627011	NM_024747.6(HPS6):c.155del (p.Val52fs)	HPS6, LOC130004578 (V52fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 1004793	NM_024747.6(HPS6):c.157G>A (p.Ala53Thr)	HPS6, LOC130004578 (A53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1638421	NM_024747.6(HPS6):c.165G>A (p.Gln55=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013226	NM_024747.6(HPS6):c.174C>A (p.Val58=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897361	NM_024747.6(HPS6):c.177G>A (p.Ala59=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2251127	NM_024747.6(HPS6):c.178T>G (p.Ser60Ala)	HPS6, LOC130004578 (S60A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2062597	NM_024747.6(HPS6):c.181C>T (p.Arg61Ter)	HPS6, LOC130004578 (R61*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1063083	NM_024747.6(HPS6):c.184G>T (p.Gly62Trp)	HPS6, LOC130004578 (G62W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298552	NM_024747.6(HPS6):c.194C>G (p.Ala65Gly)	HPS6, LOC130004578 (A65G)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 2903864	NM_024747.6(HPS6):c.195G>A (p.Ala65=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050563	NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)	HPS6, LOC130004578 (W71fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome 6	GLikely pathogenic
Select item 1419623	NM_024747.6(HPS6):c.205C>G (p.Arg69Gly)	HPS6, LOC130004578 (R69G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962044	NM_024747.6(HPS6):c.210C>T (p.Ala70=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999374	NM_024747.6(HPS6):c.220_223dup (p.Gln75fs)	HPS6, LOC130004578 (Q75fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2072423	NM_024747.6(HPS6):c.215C>T (p.Pro72Leu)	HPS6, LOC130004578 (P72L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2539470	NM_024747.6(HPS6):c.218C>T (p.Ala73Val)	HPS6, LOC130004578 (A73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374107	NM_024747.6(HPS6):c.218C>G (p.Ala73Gly)	HPS6, LOC130004578 (A73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1953921	NM_024747.6(HPS6):c.219C>T (p.Ala73=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962718	NM_024747.6(HPS6):c.222C>G (p.Gly74=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30676	NM_024747.6(HPS6):c.223C>T (p.Gln75Ter)	HPS6, LOC130004578 (Q75*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1677073	NM_024747.6(HPS6):c.229_232del (p.Ser77fs)	HPS6, LOC130004578 (S77fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 1473662	NM_024747.6(HPS6):c.226C>T (p.Pro76Ser)	HPS6, LOC130004578 (P76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194563	NM_024747.6(HPS6):c.231C>T (p.Ser77=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284745	NM_024747.6(HPS6):c.233C>T (p.Pro78Leu)	HPS6, LOC130004578 (P78L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035200	NM_024747.6(HPS6):c.234G>T (p.Pro78=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	HPS6-related disorder	GLikely benign
Select item 208586	NM_024747.6(HPS6):c.238dup (p.Asp80fs)	HPS6, LOC130004578 (D80fs)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3014146	NM_024747.6(HPS6):c.237G>A (p.Leu79=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922196	NM_024747.6(HPS6):c.250C>T (p.Leu84=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988873	NM_024747.6(HPS6):c.256_264dup (p.Trp86_Ala88dup)	HPS6, LOC130004578	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 435463	NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)	HPS6, LOC130004578 (P85L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2860845	NM_024747.6(HPS6):c.257_258del (p.Trp86fs)	HPS6, LOC130004578 (W86fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1954110	NM_024747.6(HPS6):c.260C>T (p.Pro87Leu)	HPS6, LOC130004578 (P87L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517080	NM_024747.6(HPS6):c.269C>G (p.Pro90Arg)	HPS6, LOC130004578 (P90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1533041	NM_024747.6(HPS6):c.270G>A (p.Pro90=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048318	NM_024747.6(HPS6):c.273G>T (p.Ala91=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877350	NM_024747.6(HPS6):c.276G>A (p.Leu92=)	HPS6, LOC130004578	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750489	NM_024747.6(HPS6):c.276_277delinsCT (p.Val93Leu)	HPS6, LOC130004578 (V93L)	Indel (missense variant)	not provided	GLikely benign
Select item 880396	NM_024747.6(HPS6):c.277G>T (p.Val93Leu)	HPS6, LOC130004578 (V93L)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 595731	NM_024747.6(HPS6):c.283del (p.Val95fs)	HPS6, LOC130004578 (V95fs)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +1 more	GPathogenic
Select item 298553	NM_024747.6(HPS6):c.298C>T (p.Leu100=)	HPS6	Single nucleotide variant (synonymous variant)	Hermansky-Pudlak syndrome 6	GUncertain significance
Select item 877635	NM_024747.6(HPS6):c.303C>T (p.Ala101=)	HPS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2803247	NM_024747.6(HPS6):c.307G>A (p.Val103Met)	HPS6 (V103M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124159	NM_024747.6(HPS6):c.321C>G (p.Gly107=)	HPS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354472	NM_024747.6(HPS6):c.322G>T (p.Val108Leu)	HPS6 (V108L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3106865	NM_024747.6(HPS6):c.325G>T (p.Gly109Trp)	HPS6 (G109W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2882082	NM_024747.6(HPS6):c.327G>A (p.Gly109=)	HPS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996366	NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)	HPS6 (W112*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2092426	NM_024747.6(HPS6):c.337C>A (p.Arg113=)	HPS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 282566	NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)	HPS6 (R113W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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