HAMP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 1168056	NC_000019.10:g.35281996A>G	HAMP	Single nucleotide variant	Hereditary hemochromatosis	GBenign
Select item 871232	NM_021175.4(HAMP):c.-153C>T	HAMP	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1165507	NM_021175.4(HAMP):c.-72C>T	HAMP	Single nucleotide variant	Hereditary hemochromatosis	GBenign
Select item 328835	NM_021175.3(HAMP):c.-67G>C	HAMP	Single nucleotide variant	Juvenile hemochromatosis	GUncertain significance
Select item 4287	NM_021175.4(HAMP):c.-25G>A	HAMP	Single nucleotide variant (5 prime UTR variant)	Hereditary hemochromatosis	GPathogenic
Select item 328836	NM_021175.4(HAMP):c.-1G>A	HAMP	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 2B	GUncertain significance
Select item 2576337	NM_021175.4(HAMP):c.2T>C (p.Met1Thr)	HAMP (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2800028	NM_021175.4(HAMP):c.9G>A (p.Leu3=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3008301	NM_021175.4(HAMP):c.21C>A (p.Ile7=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1111172	NM_021175.4(HAMP):c.21C>T (p.Ile7=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2498770	NM_021175.4(HAMP):c.27C>T (p.Ala9=)	HAMP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1623708	NM_021175.4(HAMP):c.27C>G (p.Ala9=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3021339	NM_021175.4(HAMP):c.36C>A (p.Leu12=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1431988	NM_021175.4(HAMP):c.40CTC[3] (p.Leu17_Leu18del)	HAMP	Microsatellite (inframe_deletion)	Hereditary hemochromatosis	GUncertain significance
Select item 2770687	NM_021175.4(HAMP):c.42C>G (p.Leu14=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2913112	NM_021175.4(HAMP):c.45C>G (p.Leu15=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 772813	NM_021175.4(HAMP):c.45C>T (p.Leu15=)	HAMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912783	NM_021175.4(HAMP):c.48C>T (p.Leu16=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3011391	NM_021175.4(HAMP):c.54C>G (p.Leu18=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 215916	NM_021175.4(HAMP):c.54C>T (p.Leu18=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2144119	NM_021175.4(HAMP):c.61C>T (p.Leu21=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2896459	NM_021175.4(HAMP):c.63G>C (p.Leu21=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1413522	NM_021175.4(HAMP):c.65C>T (p.Thr22Ile)	HAMP (T22I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2727490	NM_021175.4(HAMP):c.66C>T (p.Thr22=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1632405	NM_021175.4(HAMP):c.72C>T (p.Gly24=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1592571	NM_021175.4(HAMP):c.90+8C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2725843	NM_021175.4(HAMP):c.90+10C>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2844462	NM_021175.4(HAMP):c.90+11A>G	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3001743	NM_021175.4(HAMP):c.90+12G>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2998958	NM_021175.4(HAMP):c.90+17C>G	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 1271246	NM_021175.4(HAMP):c.91-297G>A	HAMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286974	NM_021175.4(HAMP):c.91-251A>G	HAMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255193	NM_021175.4(HAMP):c.91-66C>T	HAMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2978232	NM_021175.4(HAMP):c.91-17C>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2851908	NM_021175.4(HAMP):c.91-16C>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2733015	NM_021175.4(HAMP):c.91-16C>G	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2748019	NM_021175.4(HAMP):c.91-14T>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2720161	NM_021175.4(HAMP):c.91-12C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 1697837	NM_021175.4(HAMP):c.91-1G>A	HAMP	Single nucleotide variant (splice acceptor variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 216876	NM_021175.4(HAMP):c.92C>T (p.Thr31Met)	HAMP (T31M)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 4283	NM_021175.4(HAMP):c.95del (p.Gly32fs)	HAMP (G32fs)	Deletion (frameshift variant)	Hemochromatosis type 2B	GPathogenic
Select item 2908860	NM_021175.4(HAMP):c.96A>C (p.Gly32=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1380926	NM_021175.4(HAMP):c.97C>A (p.Gln33Lys)	HAMP (Q33K)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 750533	NM_021175.4(HAMP):c.99A>G (p.Gln33=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2285392	NM_021175.4(HAMP):c.100C>A (p.Leu34Ile)	HAMP (L34I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2841256	NM_021175.4(HAMP):c.102T>C (p.Leu34=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 1144165	NM_021175.4(HAMP):c.108G>A (p.Glu36=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2836277	NM_021175.4(HAMP):c.114A>G (p.Gln38=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2909160	NM_021175.4(HAMP):c.138G>A (p.Arg46=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2893395	NM_021175.4(HAMP):c.141C>T (p.Ala47=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 4285	NM_021175.4(HAMP):c.148_150+1del	HAMP	Deletion (splice donor variant)	Hemochromatosis, juvenile, digenic	GPathogenic
Select item 219838	NM_021175.4(HAMP):c.150+6C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1118335	NM_021175.4(HAMP):c.150+7G>C	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GLikely benign
Select item 414002	NM_021175.4(HAMP):c.150+7G>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 2740228	NM_021175.4(HAMP):c.150+12A>C	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GBenign
Select item 2885062	NM_021175.4(HAMP):c.150+15G>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2873795	NM_021175.4(HAMP):c.150+16A>G	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2796655	NM_021175.4(HAMP):c.150+19C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3008271	NM_021175.4(HAMP):c.151-16C>G	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2883689	NM_021175.4(HAMP):c.151-15C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2845322	NM_021175.4(HAMP):c.151-14C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 784735	NM_021175.4(HAMP):c.151-10C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3021521	NM_021175.4(HAMP):c.151-7C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 641643	NM_021175.4(HAMP):c.155T>C (p.Met52Thr)	HAMP (M52T)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 2611219	NM_021175.4(HAMP):c.163A>G (p.Arg55Gly)	HAMP (R55G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4284	NM_021175.4(HAMP):c.166C>T (p.Arg56Ter)	HAMP (R56*)	Single nucleotide variant (nonsense)	Hemochromatosis type 2B	GPathogenic
Select item 891878	NM_021175.4(HAMP):c.167G>A (p.Arg56Gln)	HAMP (R56Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1411728	NM_021175.4(HAMP):c.175C>T (p.Arg59Ter)	HAMP (R59*)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis	GUncertain significance
Select item 241375	NM_021175.4(HAMP):c.175C>G (p.Arg59Gly)	HAMP (R59G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 917401	NM_021175.4(HAMP):c.176G>C (p.Arg59Pro)	HAMP (R59P)	Single nucleotide variant (missense variant)	Hemochromatosis type 2B	GPathogenic
Select item 891879	NM_021175.4(HAMP):c.189C>T (p.Phe63=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis +1 more	GConflicting classifications of pathogenicity
Select item 2908865	NM_021175.4(HAMP):c.192C>T (p.Pro64=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3015378	NM_021175.4(HAMP):c.207C>T (p.Cys69=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 947112	NM_021175.4(HAMP):c.208T>C (p.Cys70Arg)	HAMP (C70R)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1099001	NM_021175.4(HAMP):c.210C>T (p.Cys70=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 4286	NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)	HAMP (G71D)	Single nucleotide variant (missense variant)	Hemochromatosis type 2B +4 more	GBenign/Likely benign
Select item 2726029	NM_021175.4(HAMP):c.216C>T (p.Cys72=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 188077	NM_021175.4(HAMP):c.216C>A (p.Cys72Ter)	HAMP (C72*)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis	GUncertain significance
Select item 216732	NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr)	HAMP (C73Y)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 1350113	NM_021175.4(HAMP):c.223C>T (p.Arg75Ter)	HAMP (R75*)	Single nucleotide variant (nonsense)	Hemochromatosis type 2B +1 more	GLikely pathogenic
Select item 891880	NM_021175.4(HAMP):c.223C>G (p.Arg75Gly)	HAMP (R75G)	Single nucleotide variant (missense variant)	Hemochromatosis type 2B	GUncertain significance
Select item 2697239	NM_021175.4(HAMP):c.228A>C (p.Ser76=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 219770	NM_021175.4(HAMP):c.252G>A (p.Thr84=)	HAMP	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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