H1-4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 2656298	NM_005321.3(H1-4):c.-6T>C	H1-4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2502562	NM_005321.3(H1-4):c.2T>A (p.Met1Lys)	H1-4 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 797120	NM_005321.3(H1-4):c.6C>A (p.Ser2=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676011	NM_005321.3(H1-4):c.11C>T (p.Thr4Ile)	H1-4 (T4I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656299	NM_005321.3(H1-4):c.14C>T (p.Ala5Val)	H1-4 (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746017	NM_005321.3(H1-4):c.15G>A (p.Ala5=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661931	NM_005321.3(H1-4):c.43_54dup (p.Thr18_Pro19insAlaGluLysThr)	H1-4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3025591	NM_005321.3(H1-4):c.55C>T (p.Pro19Ser)	H1-4 (P19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753933	NM_005321.3(H1-4):c.57C>T (p.Pro19=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580814	NM_005321.3(H1-4):c.85G>T (p.Gly29Cys)	H1-4 (G29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599030	NM_005321.3(H1-4):c.89C>T (p.Ala30Val)	H1-4 (A30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 745651	NM_005321.3(H1-4):c.93C>G (p.Ala31=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related condition +1 more	GBenign/Likely benign
Select item 2656300	NM_005321.3(H1-4):c.105G>T (p.Ala35=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related condition +1 more	GLikely benign
Select item 3032188	NM_005321.3(H1-4):c.111G>A (p.Gly37=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related condition	GLikely benign
Select item 3058379	NM_005321.3(H1-4):c.117G>A (p.Pro39=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related condition	GLikely benign
Select item 938390	NM_005321.3(H1-4):c.127C>T (p.Leu43Phe)	H1-4 (L43F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695152	NM_005321.3(H1-4):c.129C>T (p.Leu43=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800337	NM_005321.3(H1-4):c.133A>C (p.Thr45Pro)	H1-4 (T45P)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 2459362	NM_005321.3(H1-4):c.134C>T (p.Thr45Ile)	H1-4 (T45I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 791564	NM_005321.3(H1-4):c.140C>T (p.Ala47Val)	H1-4 (A47V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1680528	NM_005321.3(H1-4):c.148G>T (p.Ala50Ser)	H1-4 (A50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572223	NM_005321.3(H1-4):c.152C>T (p.Ser51Phe)	H1-4 (S51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611020	NM_005321.3(H1-4):c.167G>C (p.Gly56Ala)	H1-4 (G56A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732111	NM_005321.3(H1-4):c.168C>A (p.Gly56=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656301	NM_005321.3(H1-4):c.171A>G (p.Val57=)	H1-4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 762063	NM_005321.3(H1-4):c.189G>A (p.Lys63=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794060	NM_005321.3(H1-4):c.196C>T (p.Leu66=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025631	NM_005321.3(H1-4):c.204C>T (p.Ala68=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757388	NM_005321.3(H1-4):c.204C>A (p.Ala68=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2673046	NM_005321.3(H1-4):c.210C>T (p.Gly70=)	H1-4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1702696	NM_005321.3(H1-4):c.220_222del (p.Glu74del)	H1-4 (E74del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 779247	NM_005321.3(H1-4):c.225G>A (p.Lys75=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1299019	NM_005321.3(H1-4):c.236G>A (p.Arg79His)	H1-4 (R79H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725879	NM_005321.3(H1-4):c.252C>T (p.Leu84=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 432775	NM_005321.3(H1-4):c.277del (p.Leu93fs)	H1-4 (L93fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2656302	NM_005321.3(H1-4):c.276C>G (p.Thr92=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722769	NM_005321.3(H1-4):c.312C>T (p.Ser104=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617766	NM_005321.3(H1-4):c.319C>G (p.Leu107Val)	H1-4 (L107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463445	NM_005321.3(H1-4):c.332C>T (p.Ala111Val)	H1-4 (A111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 760253	NM_005321.3(H1-4):c.333G>C (p.Ala111=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725198	NM_005321.3(H1-4):c.335C>T (p.Ala112Val)	H1-4 (A112V)	Single nucleotide variant (missense variant)	H1-4-related condition +1 more	GBenign/Likely benign
Select item 3055132	NM_005321.3(H1-4):c.336C>T (p.Ala112=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related condition	GLikely benign
Select item 2656303	NM_005321.3(H1-4):c.339T>C (p.Ser113=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637866	NM_005321.3(H1-4):c.341G>A (p.Gly114Glu)	H1-4 (G114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975953	NM_005321.3(H1-4):c.365dup (p.Ala123fs)	H1-4 (A123fs)	Duplication (frameshift variant)	Rahman syndrome +1 more	GPathogenic
Select item 801358	NM_005321.3(H1-4):c.364_365del (p.Lys122fs)	H1-4 (K122fs)	Deletion (frameshift variant)	Rahman syndrome	GUncertain significance
Select item 985130	NM_005321.3(H1-4):c.368_369insT (p.Gly124fs)	H1-4 (G124fs)	Insertion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 723164	NM_005321.3(H1-4):c.372C>T (p.Gly124=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790028	NM_005321.3(H1-4):c.375G>T (p.Ala125=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3030566	NM_005321.3(H1-4):c.377C>T (p.Ala126Val)	H1-4 (A126V)	Single nucleotide variant (missense variant)	H1-4-related condition	GLikely benign
Select item 2656304	NM_005321.3(H1-4):c.378C>T (p.Ala126=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817291	NM_005321.3(H1-4):c.392dup (p.Ala132fs)	H1-4 (A132fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1685874	NM_005321.3(H1-4):c.396dup (p.Gly133fs)	H1-4 (G133fs)	Duplication (frameshift variant)	Rahman syndrome	GPathogenic
Select item 992671	NM_005321.3(H1-4):c.407dup (p.Lys137fs)	H1-4 (K137fs)	Duplication (frameshift variant)	Rahman syndrome	Gnot provided
Select item 992670	NM_005321.3(H1-4):c.406_407insT (p.Lys136fs)	H1-4 (K136fs)	Insertion (frameshift variant)	Rahman syndrome	Gnot provided
Select item 635256	NM_005321.3(H1-4):c.408dup (p.Lys137fs)	H1-4 (K137fs)	Duplication (frameshift variant)	Rahman syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3024464	NM_005321.3(H1-4):c.410dup (p.Pro138fs)	H1-4 (P138fs)	Duplication (frameshift variant)	Rahman syndrome	GPathogenic
Select item 3064024	NM_005321.3(H1-4):c.410_415delinsTCCT (p.Lys137fs)	H1-4 (K137fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 635257	NM_005321.3(H1-4):c.414dup (p.Lys139fs)	H1-4 (K139fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1679381	NM_005321.3(H1-4):c.416_419dup (p.Ala141fs)	H1-4 (A141fs)	Duplication (frameshift variant)	Rahman syndrome	GPathogenic
Select item 992672	NM_005321.3(H1-4):c.416dup (p.Lys140fs)	H1-4 (K140fs)	Duplication (frameshift variant)	Rahman syndrome	Gnot provided
Select item 931645	NM_005321.3(H1-4):c.415A>G (p.Lys139Glu)	H1-4 (K139E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1303813	NM_005321.3(H1-4):c.416A>G (p.Lys139Arg)	H1-4 (K139R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2588960	NM_005321.3(H1-4):c.422C>T (p.Ala141Val)	H1-4 (A141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3058172	NM_005321.3(H1-4):c.425C>T (p.Thr142Met)	H1-4 (T142M)	Single nucleotide variant (missense variant)	H1-4-related condition	GLikely benign
Select item 985333	NM_005321.3(H1-4):c.427_430dup (p.Ala144fs)	H1-4 (A144fs)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 635259	NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs)	H1-4 (T142fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 635258	NM_005321.3(H1-4):c.425_431delinsAGGGGGTT (p.Thr142fs)	H1-4 (T142fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 428605	NM_005321.3(H1-4):c.430dup (p.Ala144fs)	H1-4 (A144fs)	Duplication (frameshift variant)	Rahman syndrome +2 more	GPathogenic/Likely pathogenic
Select item 801359	NM_005321.3(H1-4):c.429_430del (p.Ala144fs)	H1-4 (A144fs)	Deletion (frameshift variant)	Rahman syndrome	GPathogenic
Select item 992673	NM_005321.3(H1-4):c.431dup (p.Ala145fs)	H1-4 (A145fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 817475	NM_005321.3(H1-4):c.430delinsCC (p.Ala144fs)	H1-4 (A144fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2656305	NM_005321.3(H1-4):c.431C>T (p.Ala144Val)	H1-4 (A144V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 503824	NM_005321.3(H1-4):c.433dup (p.Ala145fs)	H1-4 (A145fs)	Duplication (frameshift variant)	Rahman syndrome +1 more	GPathogenic
Select item 870827	NM_005321.3(H1-4):c.435dup (p.Thr146fs)	H1-4 (T146fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 428607	NM_005321.3(H1-4):c.436_458del (p.Thr146fs)	H1-4 (T146fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 428606	NM_005321.3(H1-4):c.441dup (p.Lys148fs)	H1-4 (K148fs)	Duplication (frameshift variant)	Rahman syndrome +1 more	GPathogenic
Select item 992674	NM_005321.3(H1-4):c.440_441del (p.Pro147fs)	H1-4 (P147fs)	Deletion (frameshift variant)	Rahman syndrome	Gnot provided
Select item 817681	NM_005321.3(H1-4):c.444_466del (p.Lys149fs)	H1-4 (K149fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1191465	NM_005321.3(H1-4):c.443dup (p.Lys149fs)	H1-4 (K149fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2577944	NM_005321.3(H1-4):c.444dup (p.Lys149fs)	H1-4 (K149fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2631828	NM_005321.3(H1-4):c.445_446del (p.Lys149fs)	H1-4 (K149fs)	Deletion (frameshift variant)	H1-4-related condition	GPathogenic
Select item 635260	NM_005321.3(H1-4):c.447dup (p.Ser150fs)	H1-4 (S150fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2663829	NM_005321.3(H1-4):c.455AGA[1] (p.Lys153del)	H1-4 (K153del)	Microsatellite (inframe_deletion)	Rahman syndrome	GPathogenic
Select item 523954	NM_005321.3(H1-4):c.454_455insT (p.Lys152fs)	H1-4 (K152fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 773469	NM_005321.3(H1-4):c.455A>G (p.Lys152Arg)	H1-4 (K152R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 635261	NM_005321.3(H1-4):c.464dup (p.Lys157fs)	H1-4 (K157fs)	Duplication (frameshift variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1695153	NM_005321.3(H1-4):c.462C>T (p.Thr154=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related condition +1 more	GBenign/Likely benign
Select item 751796	NM_005321.3(H1-4):c.482C>T (p.Pro161Leu)	H1-4 (P161L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2656306	NM_005321.3(H1-4):c.485C>T (p.Ala162Val)	H1-4 (A162V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2477415	NM_005321.3(H1-4):c.493G>A (p.Ala165Thr)	H1-4 (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527962	NM_005321.3(H1-4):c.509_549del (p.Ala170fs)	H1-4 (A170fs)	Deletion (frameshift variant)	Rahman syndrome	GLikely pathogenic
Select item 1696708	NM_005321.3(H1-4):c.526G>T (p.Ala176Ser)	H1-4 (A176S)	Single nucleotide variant (missense variant)	Rahman syndrome	GUncertain significance
Select item 2690479	NM_005321.3(H1-4):c.548A>G (p.Lys183Arg)	H1-4 (K183R)	Single nucleotide variant (missense variant)	Rahman syndrome	GLikely benign
Select item 2624031	NM_005321.3(H1-4):c.548A>T (p.Lys183Met)	H1-4 (K183M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312220	NM_005321.3(H1-4):c.552_553dup (p.Pro185fs)	H1-4 (P185fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 739608	NM_005321.3(H1-4):c.549G>A (p.Lys183=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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