"GeneDx"[submitter] AND "FOXH1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 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 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
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)	Holoprosencephaly sequence +2 more	GBenign
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 458508	NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly)	FOXH1 (D350G)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
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 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 1327340	NM_003923.3(FOXH1):c.910C>G (p.Pro304Ala)	FOXH1 (P304A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3375833	NM_003923.3(FOXH1):c.838T>G (p.Ser280Ala)	FOXH1 (S280A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806546	NM_003923.3(FOXH1):c.803G>T (p.Gly268Val)	FOXH1 (G268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 219981	NM_003923.3(FOXH1):c.771C>A (p.Gly257=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 137396	NM_003923.3(FOXH1):c.771C>T (p.Gly257=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2578077	NM_003923.3(FOXH1):c.652C>T (p.Pro218Ser)	FOXH1 (P218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636833	NM_003923.3(FOXH1):c.610G>T (p.Val204Leu)	FOXH1 (V204L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 861858	NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu)	FOXH1 (P191L)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 1019603	NM_003923.3(FOXH1):c.507C>G (p.Ile169Met)	FOXH1 (I169M)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 3343268	NM_003923.3(FOXH1):c.451G>C (p.Gly151Arg)	FOXH1 (G151R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137395	NM_003923.3(FOXH1):c.450C>T (p.His150=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +2 more	GBenign
Select item 196368	NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser)	FOXH1 (T125S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +2 more	GBenign/Likely benign
Select item 137394	NM_003923.3(FOXH1):c.363G>C (p.Arg121=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 94385	NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)	FOXH1 (S113T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2573910	NM_003923.3(FOXH1):c.269G>A (p.Cys90Tyr)	FOXH1 (C90Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804238	NM_003923.3(FOXH1):c.257C>T (p.Ser86Phe)	FOXH1 (S86F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573967	NM_003923.3(FOXH1):c.242T>C (p.Ile81Thr)	FOXH1 (I81T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373438	NM_003923.3(FOXH1):c.236A>G (p.Asp79Gly)	FOXH1 (D79G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 869451	NM_003923.3(FOXH1):c.232A>G (p.Lys78Glu)	FOXH1 (K78E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1275068	NM_003923.3(FOXH1):c.175-30C>T	FOXH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272572	NM_003923.3(FOXH1):c.175-151T>C	FOXH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310196	NM_003923.3(FOXH1):c.166C>G (p.Leu56Val)	FOXH1 (L56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259200	NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu)	FOXH1 (S16L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 391567	NM_003923.3(FOXH1):c.44A>C (p.Glu15Ala)	FOXH1 (E15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581992	NM_003923.3(FOXH1):c.39_41delinsCGT (p.Glu13_Ala14delinsAspVal)	FOXH1	Indel (missense variant)	not provided	GUncertain significance
Select item 393055	NM_003923.3(FOXH1):c.14G>A (p.Ser5Asn)	FOXH1 (S5N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 362284	NM_003923.3(FOXH1):c.-54C>T	FOXH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362288	NM_003923.2(FOXH1):c.-314T>G	FOXH1	Single nucleotide variant	Holoprosencephaly sequence +1 more	GBenign
Select item 1235462	NC_000008.11:g.144476624T>C	FOXH1	Single nucleotide variant	not provided	GBenign
Select item 253782	GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3	ADCK5, ARHGAP39 +15 more	Copy number gain	See cases	GUncertain significance
Select item 3362054	NM_003923.3(FOXH1):c.110C>T (p.Thr37Ile)	FOXH1 (T37I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360666	NM_003923.3(FOXH1):c.350C>T (p.Ala117Val)	FOXH1 (A117V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 44