ClinVar for Gene (Select 8928) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3279590	NM_003923.3(FOXH1):c.925G>A (p.Ala309Thr)	FOXH1 (A309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
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 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
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 3050097	NM_003923.3(FOXH1):c.456G>A (p.Arg152=)	FOXH1	Single nucleotide variant (synonymous variant)	FOXH1-related disorder	GLikely benign
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 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GSDMC, LY6D +173 more	Copy number gain	not provided	GPathogenic
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)	Inborn genetic diseases +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 2689088	NM_003923.3(FOXH1):c.859C>T (p.Pro287Ser)	FOXH1 (P287S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689087	NM_003923.3(FOXH1):c.620C>T (p.Pro207Leu)	FOXH1 (P207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658992	NM_003923.3(FOXH1):c.561A>G (p.Pro187=)	FOXH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658991	NM_003923.3(FOXH1):c.994C>T (p.Gln332Ter)	FOXH1 (Q332*)	Single nucleotide variant (nonsense)	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 2634544	NM_003923.3(FOXH1):c.901C>T (p.Pro301Ser)	FOXH1 (P301S)	Single nucleotide variant (missense variant)	FOXH1-related disorder	GUncertain significance
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 2631085	NM_003923.3(FOXH1):c.89G>A (p.Arg30Gln)	FOXH1 (R30Q)	Single nucleotide variant (missense variant)	not provided +1 more	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 2620226	NM_003923.3(FOXH1):c.350C>G (p.Ala117Gly)	FOXH1 (A117G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2616896	NM_003923.3(FOXH1):c.707G>A (p.Gly236Glu)	FOXH1 (G236E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2581992	NM_003923.3(FOXH1):c.39_41delinsCGT (p.Glu13_Ala14delinsAspVal)	FOXH1	Indel (missense variant)	not provided	GUncertain significance
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 2573967	NM_003923.3(FOXH1):c.242T>C (p.Ile81Thr)	FOXH1 (I81T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2559996	NM_003923.3(FOXH1):c.345C>G (p.Ile115Met)	FOXH1 (I115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547798	NM_003923.3(FOXH1):c.605A>C (p.Glu202Ala)	FOXH1 (E202A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543400	NM_003923.3(FOXH1):c.289G>A (p.Asp97Asn)	FOXH1 (D97N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536418	NM_003923.3(FOXH1):c.362G>A (p.Arg121Gln)	FOXH1 (R121Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492229	NM_003923.3(FOXH1):c.496G>A (p.Gly166Ser)	FOXH1 (G166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469808	NM_003923.3(FOXH1):c.662C>G (p.Pro221Arg)	FOXH1 (P221R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455045	NM_003923.3(FOXH1):c.182G>C (p.Arg61Pro)	FOXH1 (R61P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445821	NM_003923.3(FOXH1):c.584G>T (p.Gly195Val)	FOXH1 (G195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385884	NM_003923.3(FOXH1):c.407C>T (p.Ala136Val)	FOXH1 (A136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2298711	NM_003923.3(FOXH1):c.791G>A (p.Arg264Gln)	FOXH1 (R264Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2282730	NM_003923.3(FOXH1):c.433G>C (p.Gly145Arg)	FOXH1 (G145R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281833	NM_003923.3(FOXH1):c.809G>C (p.Arg270Thr)	FOXH1 (R270T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1806546	NM_003923.3(FOXH1):c.803G>T (p.Gly268Val)	FOXH1 (G268V)	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 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
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)	Holoprosencephaly sequence	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 +1 more	GLikely benign
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
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 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	DGAT1, EEF1D +52 more	Deletion	Epidermolysis bullosa simplex with nail dystrophy +5 more	GPathogenic
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

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