57217[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 1180436	NC_000002.12:g.46722010_46985532dup	LOC129933679, LOC129933680 +19 more	Duplication	not specified	Gnot provided
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 1236835	NM_001288953.2(TTC7A):c.-13+273G>A	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285754	NM_001288953.2(TTC7A):c.-12-153A>C	TTC7A, MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249964	NM_001288953.2(TTC7A):c.-12-120C>G	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678372	NM_001288953.2(TTC7A):c.7C>T (p.Pro3Ser)	TTC7A, MCFD2 (P3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650876	NM_001288953.2(TTC7A):c.15G>A (p.Ser5=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2498818	NM_001288953.2(TTC7A):c.44C>T (p.Ser15Phe)	TTC7A, MCFD2 (S15F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1209045	NM_001288953.2(TTC7A):c.60C>G (p.Leu20=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1280667	NM_001288953.2(TTC7A):c.82+116T>C	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285856	NM_001288953.2(TTC7A):c.82+213A>G	TTC7A, MCFD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271947	NM_001288953.2(TTC7A):c.83-9516T>C	MCFD2, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268387	NM_001288953.2(TTC7A):c.83-9432A>G	LOC129933677, MCFD2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274211	NM_020458.3(TTC7A):c.-354C>A	LOC129933677, MCFD2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250809	NM_020458.4(TTC7A):c.-84C>A	MCFD2, TTC7A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2503811	NM_020458.4(TTC7A):c.8del (p.Ala3fs)	MCFD2, TTC7A (A3fs)	Deletion (frameshift variant +2 more)	Gastrointestinal defect and immunodeficiency syndrome	GLikely pathogenic
Select item 1037180	NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn)	MCFD2, TTC7A (K4N)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 528468	NM_020458.4(TTC7A):c.12G>A (p.Lys4=)	TTC7A, MCFD2	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2135849	NM_020458.4(TTC7A):c.15C>T (p.Gly5=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2917855	NM_020458.4(TTC7A):c.21C>T (p.His7=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 808739	NM_020458.4(TTC7A):c.27C>T (p.Ser9=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias +1 more	GLikely benign
Select item 1025381	NM_020458.4(TTC7A):c.29A>T (p.Tyr10Phe)	MCFD2, TTC7A (Y10F)	Single nucleotide variant (missense variant +3 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 3069133	NM_020458.4(TTC7A):c.30C>T (p.Tyr10=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2650877	NM_020458.4(TTC7A):c.31C>T (p.Leu11=)	MCFD2, TTC7A (R31K)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2633239	NM_020458.4(TTC7A):c.32T>C (p.Leu11Pro)	MCFD2, TTC7A (L11P +1 more)	Single nucleotide variant (missense variant +2 more)	TTC7A-related disorder	GUncertain significance
Select item 2069745	NM_020458.4(TTC7A):c.35A>G (p.Lys12Arg)	MCFD2, TTC7A (F30L +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1160841	NM_020458.4(TTC7A):c.36G>A (p.Lys12=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1007313	NM_020458.4(TTC7A):c.44G>C (p.Ser15Thr)	MCFD2, TTC7A (L27V +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1433198	NM_020458.4(TTC7A):c.46G>A (p.Glu16Lys)	MCFD2, TTC7A (E16K +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1437772	NM_020458.4(TTC7A):c.52G>C (p.Glu18Gln)	TTC7A, MCFD2 (E18Q +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias +1 more	GUncertain significance
Select item 391837	NM_020458.4(TTC7A):c.59G>A (p.Cys20Tyr)	MCFD2, TTC7A (C20Y +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1011882	NM_020458.4(TTC7A):c.61C>G (p.Arg21Gly)	MCFD2, TTC7A (R21G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1007608	NM_020458.4(TTC7A):c.61C>T (p.Arg21Cys)	MCFD2, TTC7A (R21C +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 660088	NM_020458.4(TTC7A):c.71G>C (p.Gly24Ala)	MCFD2, TTC7A (G24A +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1499268	NM_020458.4(TTC7A):c.73C>T (p.His25Tyr)	MCFD2, TTC7A (H25Y +1 more)	Single nucleotide variant (missense variant +3 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 988519	NM_020458.4(TTC7A):c.76dup (p.Trp26fs)	TTC7A, MCFD2 (W17fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 3184391	NM_020458.4(TTC7A):c.79G>T (p.Asp27Tyr)	MCFD2, TTC7A (D27Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1634154	NM_020458.4(TTC7A):c.81C>T (p.Asp27=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 856340	NM_020458.4(TTC7A):c.89C>T (p.Pro30Leu)	MCFD2, TTC7A (G12S +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1544150	NM_020458.4(TTC7A):c.94C>T (p.Leu32=)	MCFD2, TTC7A (S10N)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 791014	NM_020458.4(TTC7A):c.94C>G (p.Leu32Val)	MCFD2, TTC7A (L32V +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GBenign
Select item 1057166	NM_020458.4(TTC7A):c.101G>A (p.Arg34Gln)	MCFD2, TTC7A (R34Q +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1109658	NM_020458.4(TTC7A):c.102G>C (p.Arg34=)	MCFD2, TTC7A (C7W)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2758825	NM_020458.4(TTC7A):c.106C>T (p.Leu36=)	MCFD2, TTC7A (S6N)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2533838	NM_020458.4(TTC7A):c.107T>C (p.Leu36Pro)	MCFD2, TTC7A (S6G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3001306	NM_020458.4(TTC7A):c.108G>C (p.Leu36=)	MCFD2, TTC7A (C5W)	Single nucleotide variant (synonymous variant +3 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1487795	NM_020458.4(TTC7A):c.113C>G (p.Thr38Arg)	MCFD2, TTC7A (T38R +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 639812	NM_020458.4(TTC7A):c.113C>T (p.Thr38Met)	MCFD2, TTC7A (V4I +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1403869	NM_020458.4(TTC7A):c.124C>G (p.Pro42Ala)	MCFD2, TTC7A (P42A)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 528466	NM_020458.4(TTC7A):c.132C>T (p.Gly44=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2003902	NM_020458.4(TTC7A):c.136G>C (p.Gly46Arg)	MCFD2, TTC7A (G46R)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2289329	NM_020458.4(TTC7A):c.137G>A (p.Gly46Asp)	MCFD2, TTC7A (G46D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 996288	NM_020458.4(TTC7A):c.138dup (p.Asn47Ter)	MCFD2, TTC7A (N47*)	Duplication (nonsense +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1502463	NM_020458.4(TTC7A):c.141C>A (p.Asn47Lys)	MCFD2, TTC7A (N47K)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 626201	NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly)	MCFD2, TTC7A (R48G)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal defects and immunodeficiency syndrome 1 +2 more	GUncertain significance
Select item 3020169	NM_020458.4(TTC7A):c.145C>A (p.Arg49=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 969448	NM_020458.4(TTC7A):c.148G>C (p.Gly50Arg)	MCFD2, TTC7A (G50R)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1914937	NM_020458.4(TTC7A):c.153C>G (p.Ser51Arg)	MCFD2, TTC7A (S51R)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2145713	NM_020458.4(TTC7A):c.154C>T (p.Pro52Ser)	MCFD2, TTC7A (P52S)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias +1 more	GUncertain significance
Select item 947792	NM_020458.4(TTC7A):c.154C>A (p.Pro52Thr)	MCFD2, TTC7A (P52T)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 657424	NM_020458.4(TTC7A):c.154C>G (p.Pro52Ala)	MCFD2, TTC7A (P52A)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 721225	NM_020458.4(TTC7A):c.158G>C (p.Ser53Thr)	MCFD2, TTC7A (S53T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1155290	NM_020458.4(TTC7A):c.162A>G (p.Ala54=)	MCFD2, TTC7A	Single nucleotide variant (synonymous variant +2 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 847046	NM_020458.4(TTC7A):c.163G>A (p.Ala55Thr)	MCFD2, TTC7A (A55T)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 3233576	NM_020458.4(TTC7A):c.164C>T (p.Ala55Val)	MCFD2, TTC7A (A55V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 641829	NM_020458.4(TTC7A):c.169A>G (p.Thr57Ala)	MCFD2, TTC7A (T57A)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 2819608	NM_020458.4(TTC7A):c.176del (p.Pro59fs)	MCFD2, TTC7A (P59fs)	Deletion (frameshift variant +2 more)	Multiple gastrointestinal atresias	GPathogenic
Select item 528474	NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg)	MCFD2, TTC7A (P59R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1720676	NM_020458.4(TTC7A):c.180C>G (p.Asp60Glu)	MCFD2, TTC7A (D60E)	Single nucleotide variant (missense variant +2 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1639011	NM_020458.4(TTC7A):c.184+7A>C	TTC7A, MCFD2	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1293929	NM_020458.4(TTC7A):c.184+28G>C	MCFD2, TTC7A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1250417	NM_020458.4(TTC7A):c.184+139C>T	TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247852	NM_020458.4(TTC7A):c.184+235A>C	TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1932883	NM_020458.4(TTC7A):c.185-20A>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 1643015	NM_020458.4(TTC7A):c.185-14A>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2784839	NM_020458.4(TTC7A):c.185-13C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 2420089	NM_020458.4(TTC7A):c.185-10T>G	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 626202	NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu)	TTC7A (D63E +1 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal defects and immunodeficiency syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1071145	NM_020458.4(TTC7A):c.192del (p.Phe64fs)	TTC7A (F30fs +1 more)	Deletion (frameshift variant +1 more)	Gastrointestinal defects and immunodeficiency syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2997075	NM_020458.4(TTC7A):c.191T>A (p.Phe64Tyr)	TTC7A (F30Y +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1036922	NM_020458.4(TTC7A):c.194G>C (p.Gly65Ala)	TTC7A (G65A +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias +1 more	GUncertain significance
Select item 1561778	NM_020458.4(TTC7A):c.202C>T (p.Leu68=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 2983108	NM_020458.4(TTC7A):c.204G>C (p.Leu68=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 846721	NM_020458.4(TTC7A):c.208G>A (p.Ala70Thr)	TTC7A (A70T +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias +2 more	GUncertain significance
Select item 190395	NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	TTC7A (E71K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2330872	NM_020458.4(TTC7A):c.214G>A (p.Ala72Thr)	TTC7A (A72T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2001826	NM_020458.4(TTC7A):c.226C>T (p.Gln76Ter)	TTC7A (Q42* +1 more)	Single nucleotide variant (nonsense +1 more)	Multiple gastrointestinal atresias	GPathogenic
Select item 755586	NM_020458.4(TTC7A):c.246T>C (p.His82=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 1517173	NM_020458.4(TTC7A):c.248C>G (p.Ala83Gly)	TTC7A (A83G +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 967082	NM_020458.4(TTC7A):c.248C>A (p.Ala83Asp)	TTC7A (A83D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 649734	NM_020458.4(TTC7A):c.262T>C (p.Ser88Pro)	TTC7A (S54P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1628053	NM_020458.4(TTC7A):c.264C>T (p.Ser88=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	Multiple gastrointestinal atresias	GLikely benign
Select item 665288	NM_020458.4(TTC7A):c.266T>A (p.Met89Lys)	TTC7A (M55K +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1395472	NM_020458.4(TTC7A):c.275T>C (p.Leu92Pro)	TTC7A (L58P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1696369	NM_020458.4(TTC7A):c.281del (p.Lys94fs)	TTC7A (K60fs +1 more)	Deletion (frameshift variant +1 more)	Gastrointestinal defect and immunodeficiency syndrome	GLikely pathogenic

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