ClinVar for MedGen (Select 38214) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062107	NM_001377229.1(DISP1):c.1916C>T (p.Thr639Ile)	DISP1 (T396I +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 3019778	NM_003923.3(FOXH1):c.214_217del (p.Glu72fs)	FOXH1 (E72fs)	Deletion (frameshift variant)	Holoprosencephaly sequence	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 3001572	NM_003923.3(FOXH1):c.1050C>T (p.Asp350=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2966939	NM_003923.3(FOXH1):c.567C>A (p.Ser189Arg)	FOXH1 (S189R)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2905627	NM_003923.3(FOXH1):c.2T>A (p.Met1Lys)	FOXH1 (M1K)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly sequence	GUncertain significance
Select item 2885105	NM_003923.3(FOXH1):c.619C>T (p.Pro207Ser)	FOXH1 (P207S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2878337	NM_003923.3(FOXH1):c.680G>A (p.Arg227Lys)	FOXH1 (R227K)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2858392	NM_003923.3(FOXH1):c.403G>A (p.Gly135Ser)	FOXH1 (G135S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 2854701	NM_003923.3(FOXH1):c.1071C>T (p.Gly357=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2837877	NM_003923.3(FOXH1):c.167T>G (p.Leu56Arg)	FOXH1 (L56R)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	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 2768487	NM_003923.3(FOXH1):c.965G>A (p.Gly322Glu)	FOXH1 (G322E)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	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 2741774	NM_003923.3(FOXH1):c.100C>T (p.Pro34Ser)	FOXH1 (P34S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2740788	NM_003923.3(FOXH1):c.714C>T (p.Ile238=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2733508	NM_003923.3(FOXH1):c.244C>A (p.Arg82Ser)	FOXH1 (R82S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2732603	NM_003923.3(FOXH1):c.606G>A (p.Glu202=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2728957	NM_003923.3(FOXH1):c.704G>A (p.Gly235Glu)	FOXH1 (G235E)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2726574	NM_003923.3(FOXH1):c.763C>T (p.Leu255=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2723363	NM_003923.3(FOXH1):c.694A>G (p.Thr232Ala)	FOXH1 (T232A)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2328454	NM_003923.3(FOXH1):c.527C>A (p.Ser176Tyr)	FOXH1 (S176Y)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 2200051	NM_003923.3(FOXH1):c.219C>T (p.Asp73=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2196438	NM_003923.3(FOXH1):c.444G>C (p.Val148=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
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 2175176	NM_003923.3(FOXH1):c.75G>A (p.Lys25=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2171232	NM_003923.3(FOXH1):c.77A>G (p.Lys26Arg)	FOXH1 (K26R)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2170693	NM_003923.3(FOXH1):c.599G>A (p.Gly200Glu)	FOXH1 (G200E)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2153084	NM_003923.3(FOXH1):c.48G>A (p.Ser16=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 2148903	NM_003923.3(FOXH1):c.470C>G (p.Pro157Arg)	FOXH1 (P157R)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	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 2136586	NM_003923.3(FOXH1):c.296C>A (p.Ala99Glu)	FOXH1 (A99E)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 2129004	NM_003923.3(FOXH1):c.182G>T (p.Arg61Leu)	FOXH1 (R61L)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	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 1983140	NM_003923.3(FOXH1):c.868G>A (p.Val290Ile)	FOXH1 (V290I)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1961738	NM_003923.3(FOXH1):c.385C>T (p.Arg129Trp)	FOXH1 (R129W)	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 1662300	NM_003923.3(FOXH1):c.843C>T (p.Tyr281=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 1643350	NM_003923.3(FOXH1):c.525G>A (p.Gly175=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1623550	NM_003923.3(FOXH1):c.165G>A (p.Lys55=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 1606650	NM_003923.3(FOXH1):c.660C>T (p.Cys220=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 1551457	NM_003923.3(FOXH1):c.609G>A (p.Ala203=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 1537620	NM_003923.3(FOXH1):c.477C>G (p.Pro159=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 1516632	NM_003923.3(FOXH1):c.560C>T (p.Pro187Leu)	FOXH1 (P187L)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1495854	NM_003923.3(FOXH1):c.548C>T (p.Pro183Leu)	FOXH1 (P183L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1474768	NM_003923.3(FOXH1):c.147_149del (p.Pro50del)	FOXH1 (P50del)	Deletion (inframe_deletion)	Holoprosencephaly sequence	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 1437505	NM_003923.3(FOXH1):c.40G>A (p.Ala14Thr)	FOXH1 (A14T)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1436191	NM_003923.3(FOXH1):c.254_265del (p.Leu85_Asn88del)	FOXH1	Deletion (inframe_deletion)	Holoprosencephaly sequence	GUncertain significance
Select item 1419514	NM_003923.3(FOXH1):c.416C>A (p.Ala139Asp)	FOXH1 (A139D)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 1412772	NM_003923.3(FOXH1):c.791G>C (p.Arg264Pro)	FOXH1 (R264P)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1402848	NM_003923.3(FOXH1):c.128C>T (p.Ala43Val)	FOXH1 (A43V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	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 1386532	NM_003923.3(FOXH1):c.122T>C (p.Met41Thr)	FOXH1 (M41T)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1377603	NM_003923.3(FOXH1):c.376G>A (p.Ala126Thr)	FOXH1 (A126T)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1342534	NM_001393530.1(MATN4):c.1688-7C>A	LOC130065955, MATN4	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly sequence	GUncertain significance
Select item 1150025	NM_003923.3(FOXH1):c.130T>G (p.Leu44Val)	FOXH1 (L44V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1149375	NM_003923.3(FOXH1):c.726C>T (p.Thr242=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 1101639	NM_003923.3(FOXH1):c.6G>A (p.Gly2=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
Select item 1059478	NM_003923.3(FOXH1):c.32C>A (p.Pro11His)	FOXH1 (P11H)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GLikely benign
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 1021945	NM_003923.3(FOXH1):c.424A>G (p.Lys142Glu)	FOXH1 (K142E)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	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 1017204	NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe)	FOXH1 (L243F)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 1007245	NM_003923.3(FOXH1):c.685G>A (p.Glu229Lys)	FOXH1 (E229K)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 978674	NM_005560.6(LAMA5):c.5635G>A (p.Val1879Ile)	LAMA5 (V1879I)	Single nucleotide variant (missense variant)	Severe hydrocephalus +1 more	GUncertain significance
Select item 978645	NM_005560.6(LAMA5):c.5680C>T (p.Arg1894Cys)	LAMA5 (R1894C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 978620	NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)	ZRSR2 (R403fs)	Deletion (frameshift variant)	Heart, malformation of +3 more	GLikely pathogenic
Select item 963495	NM_003923.3(FOXH1):c.13A>T (p.Ser5Cys)	FOXH1 (S5C)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 956321	NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr)	FOXH1 (S158T)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 912161	NM_003923.2(FOXH1):c.-337G>A	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 912160	NM_003923.2(FOXH1):c.-307G>A	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GBenign
Select item 912159	NM_003923.2(FOXH1):c.-307G>C	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 912158	NM_003923.2(FOXH1):c.-275G>T	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 912095	NM_003923.3(FOXH1):c.776C>T (p.Ala259Val)	FOXH1 (A259V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 912094	NM_003923.3(FOXH1):c.812C>T (p.Ala271Val)	FOXH1 (A271V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	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 910940	NM_003923.3(FOXH1):c.-53G>A	FOXH1	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 910939	NM_003923.3(FOXH1):c.-27C>A	FOXH1	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 910938	NM_003923.3(FOXH1):c.44A>T (p.Glu15Val)	FOXH1 (E15V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 910937	NM_003923.3(FOXH1):c.81G>A (p.Arg27=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GUncertain significance
Select item 910936	NM_003923.3(FOXH1):c.182G>A (p.Arg61His)	FOXH1 (R61H)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 910871	NM_003923.3(FOXH1):c.*21C>A	FOXH1	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 910041	NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly)	FOXH1 (E75G)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GConflicting classifications of pathogenicity
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 909983	NM_003923.3(FOXH1):c.*233G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
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 909981	NM_003923.3(FOXH1):c.*354C>T	KIFC2, FOXH1	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 909979	NM_003923.3(FOXH1):c.*423G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909138	NM_003923.3(FOXH1):c.*430G>A	KIFC2, FOXH1	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 908152	NM_003923.2(FOXH1):c.-543C>T	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 908151	NM_003923.2(FOXH1):c.-527C>T	FOXH1	Single nucleotide variant	Holoprosencephaly sequence	GUncertain significance
Select item 908089	NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser)	FOXH1 (A136S)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence +1 more	GUncertain significance
Select item 908088	NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala)	FOXH1 (P160A)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 879713	NM_018055.5(NODAL):c.*729A>G	NODAL	Single nucleotide variant (3 prime UTR variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 879451	NM_018055.5(NODAL):c.467C>T (p.Thr156Ile)	NODAL (T23I +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance
Select item 879450	NM_018055.5(NODAL):c.512A>T (p.Lys171Met)	NODAL (K171M +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 5, autosomal +1 more	GUncertain significance

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