"FOXH1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696087	NM_003923.3(FOXH1):c.1023C>T (p.Tyr341=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GBenign/Likely benign
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 415739	NM_003923.3(FOXH1):c.912G>A (p.Pro304=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GBenign/Likely benign
Select item 2634544	NM_003923.3(FOXH1):c.901C>T (p.Pro301Ser)	FOXH1 (P301S)	Single nucleotide variant (missense variant)	FOXH1-related disorder	GUncertain significance
Select item 3030225	NM_003923.3(FOXH1):c.795C>T (p.Ser265=)	FOXH1	Single nucleotide variant (synonymous variant)	FOXH1-related disorder	GLikely benign
Select item 3050254	NM_003923.3(FOXH1):c.720C>T (p.Pro240=)	FOXH1	Single nucleotide variant (synonymous variant)	FOXH1-related disorder	GLikely benign
Select item 2636833	NM_003923.3(FOXH1):c.610G>T (p.Val204Leu)	FOXH1 (V204L)	Single nucleotide variant (missense variant)	FOXH1-related disorder	GUncertain significance
Select item 1537620	NM_003923.3(FOXH1):c.477C>G (p.Pro159=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GLikely benign
Select item 2633046	NM_003923.3(FOXH1):c.457C>A (p.Pro153Thr)	FOXH1 (P153T)	Single nucleotide variant (missense variant)	FOXH1-related disorder	GUncertain significance
Select item 3050097	NM_003923.3(FOXH1):c.456G>A (p.Arg152=)	FOXH1	Single nucleotide variant (synonymous variant)	FOXH1-related disorder	GLikely benign
Select item 577331	NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln)	FOXH1 (R129Q)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +2 more	GUncertain significance
Select item 2631085	NM_003923.3(FOXH1):c.89G>A (p.Arg30Gln)	FOXH1 (R30Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance