7026[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 150426	GRCh38/hg38 15q26.2(chr15:96326287-96330171)x3	NR2F2, NR2F2-AS1	Copy number gain	See cases	GLikely benign
Select item 3347446	NM_001145155.2(NR2F2):c.37G>A (p.Gly13Ser)	NR2F2, NR2F2-AS1 (G13S)	Single nucleotide variant (missense variant)	NR2F2-related disorder	GUncertain significance
Select item 426710	NM_021005.3(NR2F2):c.-5753G>A	NR2F2, NR2F2-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1291706	NM_001145155.2(NR2F2):c.43+114G>T	NR2F2, NR2F2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 154977	GRCh38/hg38 15q26.2(chr15:96329890-96331506)x3	LOC130057995, NR2F2	Copy number gain	See cases	GLikely benign
Select item 149470	GRCh38/hg38 15q26.2(chr15:96329890-96332571)x1	LOC130057995, NR2F2	Copy number loss	See cases	GLikely benign
Select item 149789	GRCh38/hg38 15q26.2(chr15:96330112-96332571)x3	LOC130057995, NR2F2	Copy number gain	See cases	GLikely benign
Select item 152950	GRCh38/hg38 15q26.2(chr15:96330212-96332349)x3	LOC130057995, NR2F2	Copy number gain	See cases	GBenign
Select item 1262787	NM_021005.4(NR2F2):c.-962C>T	NR2F2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248399	NM_021005.4(NR2F2):c.-65C>T	NR2F2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 958490	NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser)	NR2F2 (A2S)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 3368148	NM_021005.4(NR2F2):c.9G>A (p.Met3Ile)	NR2F2 (M3I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1016890	NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala)	NR2F2 (T7A)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2570648	NM_021005.4(NR2F2):c.23G>A (p.Trp8Ter)	NR2F2 (W8*)	Single nucleotide variant (nonsense +1 more)	NR2F2 associated disorders	GLikely pathogenic
Select item 1127824	NM_021005.4(NR2F2):c.36G>A (p.Gln12=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3051780	NM_021005.4(NR2F2):c.48C>T (p.Pro16=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	NR2F2-related disorder	GLikely benign
Select item 521441	NM_021005.4(NR2F2):c.64C>T (p.Gln22Ter)	NR2F2 (Q22*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2259072	NM_021005.4(NR2F2):c.76G>C (p.Ala26Pro)	NR2F2 (A26P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 547880	NM_021005.4(NR2F2):c.83_84dup (p.Val29fs)	NR2F2 (V29fs)	Duplication (frameshift variant +1 more)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 916034	NM_021005.4(NR2F2):c.97_103del (p.Pro33fs)	NR2F2 (P33fs)	Deletion (frameshift variant +1 more)	Congenital heart defects, multiple types, 4 +1 more	GPathogenic
Select item 2042346	NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)	NR2F2 (P32R)	Single nucleotide variant (intron variant +1 more)	Congenital heart defects, multiple types, 4 +1 more	GUncertain significance
Select item 916038	NM_021005.4(NR2F2):c.103_109del (p.Gly35fs)	NR2F2 (G35fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2541489	NM_021005.4(NR2F2):c.100C>T (p.Pro34Ser)	NR2F2 (P34S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3407657	NM_021005.4(NR2F2):c.103G>A (p.Gly35Ser)	NR2F2 (G35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252829	NM_021005.4(NR2F2):c.110C>T (p.Pro37Leu)	NR2F2 (P37L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 241369	NM_021005.4(NR2F2):c.129C>G (p.Pro43=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2475201	NM_021005.4(NR2F2):c.146C>A (p.Ala49Asp)	NR2F2 (A49D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2916730	NM_021005.4(NR2F2):c.150C>T (p.Ser50=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2257274	NM_021005.4(NR2F2):c.162G>C (p.Gln54His)	NR2F2 (Q54H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 989358	NM_021005.4(NR2F2):c.172G>C (p.Gly58Arg)	NR2F2 (G58R)	Single nucleotide variant (missense variant +1 more)	NR2F2-related congenital heart defects	GUncertain significance
Select item 3407659	NM_021005.4(NR2F2):c.180G>C (p.Gln60His)	NR2F2 (Q60H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634144	NM_021005.4(NR2F2):c.197C>T (p.Pro66Leu)	NR2F2 (P66L)	Single nucleotide variant (missense variant +1 more)	NR2F2-related disorder	GUncertain significance
Select item 2569423	NM_021005.4(NR2F2):c.202A>G (p.Ser68Gly)	NR2F2 (S68G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2113678	NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)	NR2F2 (S68N)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 640947	NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg)	NR2F2 (S68R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 128234	NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)	NR2F2	Microsatellite (inframe_insertion +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1669155	NM_021005.4(NR2F2):c.210G>A (p.Lys70=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 848589	NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter)	NR2F2 (Q73*)	Single nucleotide variant (nonsense +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 3376906	NM_021005.4(NR2F2):c.232G>T (p.Glu78Ter)	NR2F2 (E78*)	Single nucleotide variant (nonsense +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 2038653	NM_021005.4(NR2F2):c.237C>T (p.Cys79=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 446122	NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter)	NR2F2 (G83*)	Single nucleotide variant (nonsense +1 more)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1557058	NM_021005.4(NR2F2):c.264C>G (p.Gly88=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1064859	NM_021005.4(NR2F2):c.269A>G (p.His90Arg)	NR2F2 (H90R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4 +1 more	GUncertain significance
Select item 1723583	NM_021005.4(NR2F2):c.274G>C (p.Gly92Arg)	NR2F2 (G92R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570646	NM_021005.4(NR2F2):c.275G>T (p.Gly92Val)	NR2F2 (G92V)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 854852	NM_021005.4(NR2F2):c.276C>T (p.Gly92=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2570643	NM_021005.4(NR2F2):c.287G>A (p.Cys96Tyr)	NR2F2 (C96Y)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 2662617	NM_021005.4(NR2F2):c.301A>G (p.Ser101Gly)	NR2F2 (S101G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014312	NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu)	NR2F2 (F103L)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2570644	NM_021005.4(NR2F2):c.313C>A (p.Arg105Ser)	NR2F2 (R105S)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 3201929	NM_021005.4(NR2F2):c.334A>G (p.Ser112Gly)	NR2F2 (S112G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1159403	NM_021005.4(NR2F2):c.357G>C (p.Arg119=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 2505835	NM_021005.4(NR2F2):c.362G>A (p.Cys121Tyr)	NR2F2 (C121Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2570645	NM_021005.4(NR2F2):c.382C>T (p.Arg128Cys)	NR2F2 (R128C)	Single nucleotide variant (missense variant +1 more)	NR2F2 associated disorders	GUncertain significance
Select item 3371224	NM_021005.4(NR2F2):c.404G>A (p.Arg135His)	NR2F2 (R135H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1097672	NM_021005.4(NR2F2):c.414G>A (p.Lys138=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1805184	NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)	NR2F2 (L140F)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1710861	NM_021005.4(NR2F2):c.442+1G>T	NR2F2	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1597154	NM_021005.4(NR2F2):c.443-5C>T	NR2F2	Single nucleotide variant (intron variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3006856	NM_021005.4(NR2F2):c.456C>T (p.Gly152=)	NR2F2	Single nucleotide variant (synonymous variant +1 more)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1606266	NM_021005.4(NR2F2):c.468G>T (p.Pro156=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3055368	NM_021005.4(NR2F2):c.489G>A (p.Gln163=)	NR2F2	Single nucleotide variant (synonymous variant)	NR2F2-related disorder	GLikely benign
Select item 1338920	NM_021005.4(NR2F2):c.527C>T (p.Ser176Leu)	NR2F2 (S176L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 477848	NM_021005.4(NR2F2):c.537C>T (p.Ser179=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4 +1 more	GBenign/Likely benign
Select item 1520649	NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg)	NR2F2 (G27R +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1805610	NM_021005.4(NR2F2):c.558dup (p.Arg187fs)	NR2F2 (R187fs +2 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 3062062	NM_021005.4(NR2F2):c.576del (p.Thr193fs)	NR2F2 (T193fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 2681443	NM_021005.4(NR2F2):c.583C>T (p.Arg195Cys)	NR2F2 (R195C +2 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1452069	NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter)	NR2F2 (Q69* +2 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 128233	NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile)	NR2F2 (N205I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 2733995	NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)	NR2F2 (I206L +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 2662479	NM_021005.4(NR2F2):c.621G>A (p.Met207Ile)	NR2F2 (M207I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165588	NM_021005.4(NR2F2):c.648C>A (p.Ala216=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 3407660	NM_021005.4(NR2F2):c.649G>A (p.Ala217Thr)	NR2F2 (A64T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201930	NM_021005.4(NR2F2):c.657G>T (p.Met219Ile)	NR2F2 (M66I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966751	NM_021005.4(NR2F2):c.671T>A (p.Val224Asp)	NR2F2 (V91D +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1038040	NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp)	NR2F2 (R75W +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 3062322	NM_021005.4(NR2F2):c.684del (p.Asn229fs)	NR2F2 (N229fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 2040295	NM_021005.4(NR2F2):c.687C>T (p.Asn229=)	NR2F2	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 4	GLikely benign
Select item 1321294	NM_021005.4(NR2F2):c.691C>A (p.Pro231Thr)	NR2F2 (P231T +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GUncertain significance
Select item 1311948	NM_021005.4(NR2F2):c.692C>T (p.Pro231Leu)	NR2F2 (P231L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241370	NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter)	NR2F2 (Q104* +2 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 4	GUncertain significance

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