8928[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC114827840, LOC121331310 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC129390060, LOC129929031 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	LOC126860527, LOC126860528 +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	LOC130001259, LOC130001260 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	MIR10400, MIR1234 +375 more	Copy number gain	See cases	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_001369769.2(KIFC2):c.2280_2282delinsTTC (p.Cys761Ser)	FOXH1, KIFC2 (C761S)	Indel (missense variant)	CBL-related disorder	GUncertain significance
Select item 2599306	NM_001369769.2(KIFC2):c.*35C>T	FOXH1, KIFC2 (P831S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 362270	NM_001369769.2(KIFC2):c.*377C>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362271	NM_001369769.2(KIFC2):c.*398G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909137	NM_001369769.2(KIFC2):c.*413C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909138	NM_001369769.2(KIFC2):c.*419C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909979	NM_001369769.2(KIFC2):c.*426C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909980	NM_001369769.2(KIFC2):c.*467G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909981	NM_001369769.2(KIFC2):c.*495G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909982	NM_001369769.2(KIFC2):c.*527G>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362272	NM_001369769.2(KIFC2):c.*538G>A	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GBenign
Select item 362273	NM_001369769.2(KIFC2):c.612_614del	FOXH1, KIFC2	Deletion (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909983	NM_001369769.2(KIFC2):c.*616C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GLikely benign
Select item 362274	NM_001369769.2(KIFC2):c.*677G>C	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 909984	NM_001369769.2(KIFC2):c.*761T>C	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362275	NM_001369769.2(KIFC2):c.*775C>T	FOXH1, KIFC2	Single nucleotide variant (3 prime UTR variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362276	NM_001369769.2(KIFC2):c.*794G>A	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)	Holoprosencephaly sequence +2 more	GBenign
Select item 137397	NM_003923.3(FOXH1):c.1077G>A (p.Leu359=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified +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 2136717	NM_003923.3(FOXH1):c.1060C>T (p.Pro354Ser)	FOXH1 (P354S)	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 837434	NM_003923.3(FOXH1):c.1056G>A (p.Ala352=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GUncertain significance
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 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)	FOXH1-related condition +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)	Holoprosencephaly sequence +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)	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 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 condition	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)	FOXH1-related condition +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 2634544	NM_003923.3(FOXH1):c.901C>T (p.Pro301Ser)	FOXH1 (P301S)	Single nucleotide variant (missense variant)	FOXH1-related condition	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 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 3013415	NM_003923.3(FOXH1):c.825G>A (p.Gly275=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
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 2281833	NM_003923.3(FOXH1):c.809G>C (p.Arg270Thr)	FOXH1 (R270T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3030225	NM_003923.3(FOXH1):c.795C>T (p.Ser265=)	FOXH1	Single nucleotide variant (synonymous variant)	FOXH1-related condition	GLikely benign
Select item 409649	NM_003923.3(FOXH1):c.794C>A (p.Ser265Tyr)	FOXH1 (S265Y)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	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 1412772	NM_003923.3(FOXH1):c.791G>C (p.Arg264Pro)	FOXH1 (R264P)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 362279	NM_003923.3(FOXH1):c.785G>T (p.Gly262Val)	FOXH1 (G262V)	Single nucleotide variant (missense variant)	Holoprosencephaly sequence	GUncertain significance
Select item 196370	NM_003923.3(FOXH1):c.783T>C (p.Pro261=)	FOXH1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 699728	NM_003923.3(FOXH1):c.780T>G (p.Val260=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign
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 219981	NM_003923.3(FOXH1):c.771C>A (p.Gly257=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +2 more	GBenign
Select item 137396	NM_003923.3(FOXH1):c.771C>T (p.Gly257=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence +1 more	GBenign
Select item 2726574	NM_003923.3(FOXH1):c.763C>T (p.Leu255=)	FOXH1	Single nucleotide variant (synonymous variant)	Holoprosencephaly sequence	GLikely benign

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