FOXH1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 325

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860453, LOC126860454 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	CTHRC1, CTSB +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860334, LOC126860335 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC108281171, LOC108281187 +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000117, LOC130000118 +3110 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130000886, LOC130000887 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LINC03084, LNCOC1 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130000944, LOC130000945 +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	AARD, ABRA +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	AARD, ABRA +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	RHPN1-AS1, RNF139 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	LOC130001235, LOC130001236 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001227, LOC130001228 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	LOC101927915, LOC101928087 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	ADCK5, ADCY8 +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	LOC130001266, LOC130001267 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	LOC130001307, LOC130001308 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 3384214	Single allele	ADCK5, ADGRB1 +289 more	Duplication	Recombinant 8 syndrome	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 692244	NM_003923.2(FOXH1):c.2041_2044delinsGAAG	FOXH1, KIFC2 (C761S)	Indel (missense variant)	CBL-related disorder	GUncertain significance
Select item 3534570	NM_001369769.2(KIFC2):c.*23T>C	FOXH1, KIFC2 (W827R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2599306	NM_001369769.2(KIFC2):c.*35C>T	FOXH1, KIFC2 (P831S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3115053	NM_001369769.2(KIFC2):c.*36C>T	FOXH1, KIFC2 (P831L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3534560	NM_001369769.2(KIFC2):c.*41C>T	FOXH1, KIFC2 (L833F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3288689	NM_001369769.2(KIFC2):c.*44T>C	FOXH1, KIFC2 (C834R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 362270	NM_003923.3(FOXH1):c.*472G>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362271	NM_003923.3(FOXH1):c.*451C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909137	NM_003923.3(FOXH1):c.*436G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909138	NM_003923.3(FOXH1):c.*430G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909979	NM_003923.3(FOXH1):c.*423G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909980	NM_003923.3(FOXH1):c.*382C>T	KIFC2, FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909981	NM_003923.3(FOXH1):c.*354C>T	KIFC2, FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909982	NM_003923.3(FOXH1):c.*322C>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362272	NM_003923.3(FOXH1):c.*311C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362273	NM_003923.3(FOXH1):c.237_239del	FOXH1, KIFC2	Deletion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909983	NM_003923.3(FOXH1):c.*233G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 362274	NM_003923.3(FOXH1):c.*172C>G	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909984	NM_003923.3(FOXH1):c.*88A>G	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362275	NM_003923.3(FOXH1):c.*74G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 362276	NM_003923.3(FOXH1):c.*55C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362277	NM_003923.3(FOXH1):c.*23C>T	FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 910871	NM_003923.3(FOXH1):c.*21C>A	FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 259199	NM_003923.3(FOXH1):c.*20A>G	FOXH1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 137397	NM_003923.3(FOXH1):c.1077G>A (p.Leu359=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2854701	NM_003923.3(FOXH1):c.1071C>T (p.Gly357=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 3516743	NM_003923.3(FOXH1):c.1064G>A (p.Gly355Asp)	FOXH1 (G355D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136717	NM_003923.3(FOXH1):c.1060C>T (p.Pro354Ser)	FOXH1 (P354S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 3516742	NM_003923.3(FOXH1):c.1058C>T (p.Ala353Val)	FOXH1 (A353V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2770815	NM_003923.3(FOXH1):c.1057G>A (p.Ala353Thr)	FOXH1 (A353T)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 837434	NM_003923.3(FOXH1):c.1056G>A (p.Ala352=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 420047	NM_003923.3(FOXH1):c.1055C>T (p.Ala352Val)	FOXH1 (A352V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001572	NM_003923.3(FOXH1):c.1050C>T (p.Asp350=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 458508	NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly)	FOXH1 (D350G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3669198	NM_003923.3(FOXH1):c.1047G>A (p.Arg349=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 387599	NM_003923.3(FOXH1):c.1033G>A (p.Val345Ile)	FOXH1 (V345I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704011	NM_003923.3(FOXH1):c.1027G>A (p.Val343Ile)	FOXH1 (V343I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085541	NM_003923.3(FOXH1):c.1026C>T (p.Asp342=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 409646	NM_003923.3(FOXH1):c.1024G>A (p.Asp342Asn)	FOXH1 (D342N)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 696087	NM_003923.3(FOXH1):c.1023C>T (p.Tyr341=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 664380	NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu)	FOXH1 (P335L)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2658991	NM_003923.3(FOXH1):c.994C>T (p.Gln332Ter)	FOXH1 (Q332*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 281145	NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu)	FOXH1 (D328E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2618848	NM_003923.3(FOXH1):c.976G>C (p.Asp326His)	FOXH1 (D326H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 572194	NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr)	FOXH1 (C325Y)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2768487	NM_003923.3(FOXH1):c.965G>A (p.Gly322Glu)	FOXH1 (G322E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 912093	NM_003923.3(FOXH1):c.965G>T (p.Gly322Val)	FOXH1 (G322V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 3730576	NM_003923.3(FOXH1):c.962C>A (p.Pro321Gln)	FOXH1 (P321Q)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 3851338	NM_003923.3(FOXH1):c.961C>G (p.Pro321Ala)	FOXH1 (P321A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1398925	NM_003923.3(FOXH1):c.958C>T (p.Pro320Ser)	FOXH1 (P320S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 705511	NM_003923.3(FOXH1):c.936G>A (p.Gly312=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 362278	NM_003923.3(FOXH1):c.933G>C (p.Trp311Cys)	FOXH1 (W311C)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2630017	NM_003923.3(FOXH1):c.932G>A (p.Trp311Ter)	FOXH1 (W311*)	Single nucleotide variant (nonsense)	FOXH1-related disorder	GUncertain significance
Select item 3279590	NM_003923.3(FOXH1):c.925G>A (p.Ala309Thr)	FOXH1 (A309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181827	NM_003923.3(FOXH1):c.923C>T (p.Pro308Leu)	FOXH1 (P308L)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2284929	NM_003923.3(FOXH1):c.916A>G (p.Thr306Ala)	FOXH1 (T306A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 698469	NM_003923.3(FOXH1):c.912G>T (p.Pro304=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 415739	NM_003923.3(FOXH1):c.912G>A (p.Pro304=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GBenign
Select item 1327340	NM_003923.3(FOXH1):c.910C>G (p.Pro304Ala)	FOXH1 (P304A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634544	NM_003923.3(FOXH1):c.901C>T (p.Pro301Ser)	FOXH1 (P301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442540	NM_003923.3(FOXH1):c.889C>T (p.Pro297Ser)	FOXH1 (P297S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1059053	NM_003923.3(FOXH1):c.878T>G (p.Leu293Trp)	FOXH1 (L293W)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1983140	NM_003923.3(FOXH1):c.868G>A (p.Val290Ile)	FOXH1 (V290I)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1939843	NM_003923.3(FOXH1):c.867G>A (p.Val289=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 259201	NM_003923.3(FOXH1):c.864T>C (p.Asn288=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3365713	NM_003923.3(FOXH1):c.863A>G (p.Asn288Ser)	FOXH1 (N288S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689088	NM_003923.3(FOXH1):c.859C>T (p.Pro287Ser)	FOXH1 (P287S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761222	NM_003923.3(FOXH1):c.856A>C (p.Thr286Pro)	FOXH1 (T286P)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1662300	NM_003923.3(FOXH1):c.843C>T (p.Tyr281=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 3375833	NM_003923.3(FOXH1):c.838T>G (p.Ser280Ala)	FOXH1 (S280A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013415	NM_003923.3(FOXH1):c.825G>A (p.Gly275=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 3776551	NM_003923.3(FOXH1):c.821G>T (p.Trp274Leu)	FOXH1 (W274L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 4