HAL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 310671	NM_002108.4(HAL):c.*1548G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310672	NM_002108.4(HAL):c.*1518C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310673	NM_002108.4(HAL):c.*1499A>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GBenign
Select item 310674	NM_002108.4(HAL):c.*1489A>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310675	NM_002108.4(HAL):c.*1409G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310676	NM_002108.4(HAL):c.*1359C>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310677	NM_002108.4(HAL):c.*1312C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GBenign
Select item 881356	NM_002108.4(HAL):c.*1300T>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310678	NM_002108.4(HAL):c.*1283T>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310679	NM_002108.4(HAL):c.*1241A>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GBenign
Select item 310680	NM_002108.4(HAL):c.*1178A>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310681	NM_002108.4(HAL):c.*1169G>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310682	NM_002108.4(HAL):c.*1161C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310683	NM_002108.4(HAL):c.*1119dup	HAL	Duplication (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310684	NM_002108.4(HAL):c.*976T>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 881357	NM_002108.4(HAL):c.*914T>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 310685	NM_002108.4(HAL):c.*836C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 310686	NM_002108.4(HAL):c.*789G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310687	NM_002108.4(HAL):c.*756C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310688	NM_002108.4(HAL):c.*728T>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 881801	NM_002108.4(HAL):c.*673T>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310689	NM_002108.4(HAL):c.*617G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 310690	NM_002108.4(HAL):c.*603A>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310691	NM_002108.4(HAL):c.*555G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 881802	NM_002108.4(HAL):c.*547G>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 882952	NM_002108.4(HAL):c.*530T>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 310692	NM_002108.4(HAL):c.*509A>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310693	NM_002108.4(HAL):c.*428C>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310695	NM_002108.4(HAL):c.405_408dup	HAL	Duplication (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310694	NM_002108.4(HAL):c.406_408dup	HAL	Duplication (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310696	NM_002108.4(HAL):c.*408del	HAL	Deletion (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 310697	NM_002108.4(HAL):c.*392C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310698	NM_002108.4(HAL):c.*227A>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310699	NM_002108.4(HAL):c.*191C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 310700	NM_002108.4(HAL):c.*132C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310701	NM_002108.4(HAL):c.*110C>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GBenign
Select item 883747	NM_002108.4(HAL):c.*4G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 2315527	NM_002108.4(HAL):c.1969C>T (p.Leu657Phe)	HAL (L657F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043109	NM_002108.4(HAL):c.1956G>A (p.Pro652=)	HAL	Single nucleotide variant (synonymous variant +1 more)	HAL-related disorder	GLikely benign
Select item 2408358	NM_002108.4(HAL):c.1951A>G (p.Ile651Val)	HAL (I651V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296341	NM_002108.4(HAL):c.1948A>G (p.Lys650Glu)	HAL (K442E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 883748	NM_002108.4(HAL):c.1933C>T (p.His645Tyr)	HAL (H437Y +1 more)	Single nucleotide variant (missense variant +1 more)	Histidinemia	GUncertain significance
Select item 883749	NM_002108.4(HAL):c.1823T>C (p.Leu608Pro)	HAL (L400P +1 more)	Single nucleotide variant (missense variant +1 more)	Histidinemia	GUncertain significance
Select item 310702	NM_002108.4(HAL):c.1801G>A (p.Glu601Lys)	HAL (E601K +1 more)	Single nucleotide variant (missense variant +1 more)	Histidinemia	GUncertain significance
Select item 3042715	NM_002108.4(HAL):c.1800C>T (p.Ile600=)	HAL	Single nucleotide variant (synonymous variant +1 more)	HAL-related disorder	GLikely benign
Select item 2528813	NM_002108.4(HAL):c.1798A>G (p.Ile600Val)	HAL (I392V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 883750	NM_002108.4(HAL):c.1794G>A (p.Pro598=)	HAL	Single nucleotide variant (synonymous variant +1 more)	Histidinemia	GUncertain significance
Select item 310703	NM_002108.4(HAL):c.1793C>T (p.Pro598Leu)	HAL (P598L +1 more)	Single nucleotide variant (missense variant +1 more)	Histidinemia	GUncertain significance
Select item 2338158	NM_002108.4(HAL):c.1781G>A (p.Arg594His)	HAL (R386H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 883751	NM_002108.4(HAL):c.1764-4G>T	HAL	Single nucleotide variant (intron variant)	HAL-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 310704	NM_002108.4(HAL):c.1764-5T>C	HAL	Single nucleotide variant (intron variant)	Histidinemia	GUncertain significance
Select item 310705	NM_002108.4(HAL):c.1763+9A>C	HAL	Single nucleotide variant (intron variant)	Histidinemia	GUncertain significance
Select item 881408	NM_002108.4(HAL):c.1754C>G (p.Ser585Cys)	HAL (S585C +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881409	NM_002108.4(HAL):c.1724C>T (p.Pro575Leu)	HAL (P575L +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 2329259	NM_002108.4(HAL):c.1702C>T (p.Arg568Cys)	HAL (R360C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296045	NM_002108.4(HAL):c.1686G>C (p.Gln562His)	HAL (Q354H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286443	NM_002108.4(HAL):c.1681T>A (p.Cys561Ser)	HAL (C353S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881410	NM_002108.4(HAL):c.1645G>A (p.Val549Met)	HAL (V341M +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881411	NM_002108.4(HAL):c.1609T>C (p.Trp537Arg)	HAL (W329R +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881412	NM_002108.4(HAL):c.1594G>A (p.Val532Ile)	HAL (V324I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 750733	NM_002108.4(HAL):c.1593C>T (p.His531=)	HAL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732015	NM_002108.4(HAL):c.1584G>A (p.Thr528=)	HAL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3035284	NM_002108.4(HAL):c.1578A>G (p.Ala526=)	HAL	Single nucleotide variant (synonymous variant)	HAL-related disorder	GLikely benign
Select item 3104164	NM_002108.4(HAL):c.1550C>T (p.Ser517Leu)	HAL (S517L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257458	NM_002108.4(HAL):c.1507G>A (p.Ala503Thr)	HAL (A295T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104163	NM_002108.4(HAL):c.1505C>T (p.Thr502Met)	HAL (T294M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881413	NM_002108.4(HAL):c.1472G>T (p.Gly491Val)	HAL (G283V +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 310706	NM_002108.4(HAL):c.1453T>C (p.Phe485Leu)	HAL (F485L +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881847	NM_002108.4(HAL):c.1428T>G (p.Asn476Lys)	HAL (N268K +1 more)	Single nucleotide variant (missense variant)	Histidinemia +1 more	GUncertain significance
Select item 310707	NM_002108.4(HAL):c.1416G>A (p.Glu472=)	HAL	Single nucleotide variant (synonymous variant)	Histidinemia	GUncertain significance
Select item 310708	NM_002108.4(HAL):c.1414G>A (p.Glu472Lys)	HAL (E472K +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 776737	NM_002108.4(HAL):c.1378A>C (p.Ile460Leu)	HAL (I460L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2384474	NM_002108.4(HAL):c.1373T>C (p.Ile458Thr)	HAL (I250T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511892	NM_002108.4(HAL):c.1354G>T (p.Ala452Ser)	HAL (A244S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 310709	NM_002108.4(HAL):c.1353+13A>G	HAL	Single nucleotide variant (intron variant)	Histidinemia	GBenign
Select item 881848	NM_002108.4(HAL):c.1329C>G (p.Asn443Lys)	HAL (N235K +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 310710	NM_002108.4(HAL):c.1315G>A (p.Val439Ile)	HAL (V439I +1 more)	Single nucleotide variant (missense variant)	HAL-related disorder +1 more	GBenign
Select item 225880	NM_002108.4(HAL):c.1287+2T>C	HAL	Single nucleotide variant (splice donor variant)	Histidinemia +1 more	GUncertain significance; association
Select item 2243335	NM_002108.4(HAL):c.1283A>C (p.Asn428Thr)	HAL (N220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 883014	NM_002108.4(HAL):c.1277C>G (p.Thr426Arg)	HAL (T426R +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 2265709	NM_002108.4(HAL):c.1229C>T (p.Thr410Ile)	HAL (T202I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104162	NM_002108.4(HAL):c.1211A>G (p.His404Arg)	HAL (H196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 883015	NM_002108.4(HAL):c.1169G>A (p.Arg390His)	HAL (R182H +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 2241762	NM_002108.4(HAL):c.1168C>T (p.Arg390Cys)	HAL (R182C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 883016	NM_002108.4(HAL):c.1163G>A (p.Cys388Tyr)	HAL (C180Y +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 2606816	NM_002108.4(HAL):c.1131C>A (p.His377Gln)	HAL, LOC128772385 (H377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104161	NM_002108.4(HAL):c.1127A>G (p.His376Arg)	HAL, LOC128772385 (H168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 310711	NM_002108.4(HAL):c.1106G>A (p.Arg369Gln)	HAL (R369Q +1 more)	Single nucleotide variant (missense variant)	HAL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 883017	NM_002108.4(HAL):c.1090G>A (p.Val364Ile)	HAL (V156I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 883018	NM_002108.4(HAL):c.1076G>A (p.Arg359His)	HAL (R151H +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 2444415	NM_002108.4(HAL):c.1018G>A (p.Val340Met)	HAL (V132M +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 3104169	NM_002108.4(HAL):c.983G>A (p.Arg328Gln)	HAL (R120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1692	NM_002108.4(HAL):c.965G>C (p.Arg322Pro)	HAL (R322P +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GAffects
Select item 225881	NM_002108.3(HAL):c.964C>T	HAL (R322* +1 more)	Single nucleotide variant (nonsense)	Increased histidine	Gassociation
Select item 2402478	NM_002108.4(HAL):c.940T>C (p.Ser314Pro)	HAL (S314P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 310712	NM_002108.4(HAL):c.921T>C (p.Asn307=)	HAL	Single nucleotide variant (synonymous variant)	HAL-related disorder +1 more	GBenign
Select item 310713	NM_002108.4(HAL):c.904-5G>A	HAL	Single nucleotide variant (intron variant)	Histidinemia	GUncertain significance
Select item 310714	NM_002108.4(HAL):c.855+9C>T	HAL	Single nucleotide variant (intron variant)	Histidinemia +1 more	GConflicting classifications of pathogenicity

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