ClinVar for MedGen (Select 113135) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2432363	NM_002108.4(HAL):c.578C>G (p.Ser193Ter)	HAL (S193*)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 883859	NM_002108.4(HAL):c.-139C>A	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883800	NM_002108.4(HAL):c.724C>A (p.Leu242Met)	HAL (L242M +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 883799	NM_002108.4(HAL):c.751G>A (p.Val251Ile)	HAL (V43I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	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 883750	NM_002108.4(HAL):c.1794G>A (p.Pro598=)	HAL	Single nucleotide variant (synonymous 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 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 883747	NM_002108.4(HAL):c.*4G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883089	NM_002108.4(HAL):c.-38C>T	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GLikely benign
Select item 883088	NM_002108.4(HAL):c.-7C>T	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883087	NM_002108.4(HAL):c.-5G>A	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883086	NM_002108.4(HAL):c.25C>T (p.Arg9Cys)	HAL (R9C)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia +1 more	GUncertain significance
Select item 883085	NM_002108.4(HAL):c.33A>G (p.Glu11=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 883084	NM_002108.4(HAL):c.86G>A (p.Arg29Gln)	HAL (R29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 883083	NM_002108.4(HAL):c.181C>T (p.Leu61=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	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 883017	NM_002108.4(HAL):c.1090G>A (p.Val364Ile)	HAL (V156I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	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 883015	NM_002108.4(HAL):c.1169G>A (p.Arg390His)	HAL (R182H +1 more)	Single nucleotide variant (missense variant)	Histidinemia	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 882952	NM_002108.4(HAL):c.*530T>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 881913	NM_002108.4(HAL):c.287C>T (p.Ser96Phe)	HAL (S96F)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881912	NM_002108.4(HAL):c.345G>A (p.Glu115=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	HAL-related disorder +1 more	GBenign/Likely benign
Select item 881911	NM_002108.4(HAL):c.368C>T (p.Thr123Met)	HAL (T123M)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881910	NM_002108.4(HAL):c.421A>G (p.Thr141Ala)	HAL (T141A)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
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 881847	NM_002108.4(HAL):c.1428T>G (p.Asn476Lys)	HAL (N268K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 881801	NM_002108.4(HAL):c.*673T>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 881470	NM_002108.4(HAL):c.438G>A (p.Val146=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881469	NM_002108.4(HAL):c.590G>C (p.Gly197Ala)	HAL (G197A)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881468	NM_002108.4(HAL):c.623G>A (p.Arg208Gln)	HAL (R208Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	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 881412	NM_002108.4(HAL):c.1594G>A (p.Val532Ile)	HAL (V324I +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 881410	NM_002108.4(HAL):c.1645G>A (p.Val549Met)	HAL (V341M +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 881408	NM_002108.4(HAL):c.1754C>G (p.Ser585Cys)	HAL (S585C +1 more)	Single nucleotide variant (missense 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 881356	NM_002108.4(HAL):c.*1300T>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 779267	NM_002108.4(HAL):c.715+9A>G	HAL	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 773028	NM_002108.4(HAL):c.492C>T (p.Tyr164=)	HAL	Single nucleotide variant (synonymous variant +1 more)	Histidinemia +1 more	GBenign/Likely 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 632205	NM_002108.4(HAL):c.309-2A>G	HAL	Single nucleotide variant (splice acceptor variant)	Histidinemia	GUncertain significance
Select item 632204	NM_002108.4(HAL):c.475G>T (p.Glu159Ter)	HAL (E159*)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 632203	NM_002108.4(HAL):c.484+1G>A	HAL	Single nucleotide variant (splice donor variant)	Histidinemia	GUncertain significance
Select item 369030	NM_002108.3(HAL):c.-378A>G	HAL	Single nucleotide variant	Histidinemia	GLikely benign
Select item 310735	NM_002108.4(HAL):c.-322T>C	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GLikely benign
Select item 310734	NM_002108.4(HAL):c.-231del	HAL	Deletion (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310733	NM_002108.4(HAL):c.-216A>C	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GLikely benign
Select item 310732	NM_002108.4(HAL):c.-127C>A	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GBenign
Select item 310731	NM_002108.4(HAL):c.-120C>T	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310730	NM_002108.4(HAL):c.-108C>T	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310729	NM_002108.4(HAL):c.-68G>A	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310728	NM_002108.4(HAL):c.9A>G (p.Arg3=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 310727	NM_002108.4(HAL):c.77G>A (p.Trp26Ter)	HAL (W26*)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 310726	NM_002108.4(HAL):c.94G>T (p.Val32Leu)	HAL (V32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 310725	NM_002108.4(HAL):c.276C>T (p.Asp92=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 310724	NM_002108.4(HAL):c.308+14C>T	HAL	Single nucleotide variant (intron variant)	Histidinemia	GUncertain significance
Select item 310723	NM_002108.4(HAL):c.322C>T (p.Arg108Trp)	HAL (R108W)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 310722	NM_002108.4(HAL):c.398G>A (p.Arg133His)	HAL (R133H)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 310721	NM_002108.4(HAL):c.423A>T (p.Thr141=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	HAL-related disorder +1 more	GBenign
Select item 310720	NM_002108.4(HAL):c.429G>A (p.Glu143=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 310719	NM_002108.4(HAL):c.485-5T>C	HAL	Single nucleotide variant (intron variant)	HAL-related disorder +1 more	GBenign
Select item 310718	NM_002108.4(HAL):c.493G>A (p.Gly165Ser)	HAL (G165S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 310717	NM_002108.4(HAL):c.686C>T (p.Thr229Ile)	HAL (T229I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 310716	NM_002108.4(HAL):c.777A>G (p.Pro259=)	HAL	Single nucleotide variant (synonymous variant)	HAL-related disorder +1 more	GBenign
Select item 310715	NM_002108.4(HAL):c.841G>A (p.Ala281Thr)	HAL (A281T +1 more)	Single nucleotide variant (missense 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
Select item 310713	NM_002108.4(HAL):c.904-5G>A	HAL	Single nucleotide variant (intron variant)	Histidinemia	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 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 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 310709	NM_002108.4(HAL):c.1353+13A>G	HAL	Single nucleotide variant (intron variant)	Histidinemia	GBenign
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 310707	NM_002108.4(HAL):c.1416G>A (p.Glu472=)	HAL	Single nucleotide variant (synonymous 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 310705	NM_002108.4(HAL):c.1763+9A>C	HAL	Single nucleotide variant (intron variant)	Histidinemia	GUncertain significance
Select item 310704	NM_002108.4(HAL):c.1764-5T>C	HAL	Single nucleotide variant (intron variant)	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 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 310701	NM_002108.4(HAL):c.*110C>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GBenign
Select item 310700	NM_002108.4(HAL):c.*132C>T	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 310698	NM_002108.4(HAL):c.*227A>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310697	NM_002108.4(HAL):c.*392C>T	HAL	Single nucleotide variant (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 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 310693	NM_002108.4(HAL):c.*428C>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310692	NM_002108.4(HAL):c.*509A>T	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 310690	NM_002108.4(HAL):c.*603A>G	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 310688	NM_002108.4(HAL):c.*728T>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 310686	NM_002108.4(HAL):c.*789G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 310685	NM_002108.4(HAL):c.*836C>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign

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