17341[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155626	GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1	CHL1, CHL1-AS1 +37 more	Copy number loss	See cases	GUncertain significance
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150610	GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1	CHL1, CHL1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 154669	GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1	CHL1, CHL1-AS1 +72 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57737	GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1	CHL1, CHL1-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 60049	GRCh38/hg38 3p26.3-26.2(chr3:2301168-3219257)x1	CNTN4, CNTN4-AS1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 57693	GRCh38/hg38 3p26.3-26.2(chr3:2577647-3615783)x3	CNTN4, CNTN4-AS1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 155549	GRCh38/hg38 3p26.3-26.2(chr3:2740571-3165943)x3	CNTN4, CNTN4-AS1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 154282	GRCh38/hg38 3p26.2(chr3:2847667-3320817)x3	CNTN4, CNTN4-AS1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 153379	GRCh38/hg38 3p26.2(chr3:3060140-3263298)x1	CNTN4-AS1, CRBN +9 more	Copy number loss	See cases	GUncertain significance
Select item 1329830	NC_000003.12:g.3126841C>T	LOC129936047, TRNT1	Single nucleotide variant	not provided	GLikely benign
Select item 1223814	NC_000003.12:g.3126875T>C	LOC129936047, TRNT1	Single nucleotide variant	not provided	GBenign
Select item 1292317	NC_000003.12:g.3126901C>T	LOC129936047, TRNT1	Single nucleotide variant	not provided	GBenign
Select item 1326594	NM_182916.3(TRNT1):c.-76C>A	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 681405	NM_182916.3(TRNT1):c.-55_-47dup	LOC129936047, TRNT1	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 386930	NM_182916.3(TRNT1):c.-50C>T	LOC129936047, TRNT1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 388658	NM_182916.3(TRNT1):c.-47C>T	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 513853	NM_182916.3(TRNT1):c.-33G>A	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 513098	NM_182916.3(TRNT1):c.-28+9G>A	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 384903	NM_182916.3(TRNT1):c.-28+10C>G	LOC129936047, TRNT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 387457	NM_182916.3(TRNT1):c.-28+17C>G	TRNT1, LOC129936047	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1326595	NM_182916.3(TRNT1):c.-28+98C>A	TRNT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 669583	NM_182916.3(TRNT1):c.-27-289G>C	TRNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269795	NM_182916.3(TRNT1):c.-27-237_-27-235dup	TRNT1	Duplication (intron variant)	not provided	GBenign
Select item 1216072	NM_182916.3(TRNT1):c.-27-68C>T	TRNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297783	NM_182916.3(TRNT1):c.-27-67C>G	TRNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381864	NM_182916.3(TRNT1):c.-27-20C>G	TRNT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 422964	NM_182916.3(TRNT1):c.-27-17_-27-14del	TRNT1	Deletion (intron variant)	not provided	GLikely benign
Select item 681586	NM_182916.3(TRNT1):c.-27-13A>T	TRNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509315	NM_182916.3(TRNT1):c.-23G>A	TRNT1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1378892	NM_182916.3(TRNT1):c.1A>G (p.Met1Val)	TRNT1 (M1V)	Single nucleotide variant (missense variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 3017738	NM_182916.3(TRNT1):c.5_12del (p.Leu2fs)	TRNT1 (L2fs)	Deletion (frameshift variant +2 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1154995	NM_182916.3(TRNT1):c.4C>T (p.Leu2=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2116264	NM_182916.3(TRNT1):c.12C>T (p.Cys4=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2989720	NM_182916.3(TRNT1):c.15G>A (p.Leu5=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2301991	NM_182916.3(TRNT1):c.27C>G (p.His9Gln)	TRNT1 (H9Q)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GUncertain significance
Select item 511192	NM_182916.3(TRNT1):c.27C>T (p.His9=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GLikely benign
Select item 2001044	NM_182916.3(TRNT1):c.31C>T (p.Pro11Ser)	TRNT1 (P11S)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1422232	NM_182916.3(TRNT1):c.31C>G (p.Pro11Ala)	TRNT1 (P11A)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1068618	NM_182916.3(TRNT1):c.33_46del (p.Leu13fs)	TRNT1 (L13fs)	Deletion (frameshift variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1612189	NM_182916.3(TRNT1):c.36G>A (p.Val12=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1379375	NM_182916.3(TRNT1):c.38T>C (p.Leu13Pro)	TRNT1 (L13P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1045778	NM_182916.3(TRNT1):c.43C>T (p.Arg15Cys)	TRNT1 (R15C)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1095776	NM_182916.3(TRNT1):c.45T>C (p.Arg15=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2074925	NM_182916.3(TRNT1):c.54T>C (p.Ser18=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1020210	NM_182916.3(TRNT1):c.59T>C (p.Leu20Pro)	TRNT1 (L20P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1634524	NM_182916.3(TRNT1):c.60G>A (p.Leu20=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1095212	NM_182916.3(TRNT1):c.60G>T (p.Leu20=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1082383	NM_182916.3(TRNT1):c.63C>T (p.Cys21=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 1375131	NM_182916.3(TRNT1):c.64C>T (p.Leu22Phe)	TRNT1 (L22F)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1036569	NM_182916.3(TRNT1):c.65T>G (p.Leu22Arg)	TRNT1 (L22R)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2109788	NM_182916.3(TRNT1):c.67_68delinsTT (p.Pro23Leu)	TRNT1 (P23L)	Indel (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 772448	NM_182916.3(TRNT1):c.67_68delinsGT (p.Pro23Val)	TRNT1 (P23V)	Indel (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GBenign
Select item 506590	NM_182916.3(TRNT1):c.67C>G (p.Pro23Ala)	TRNT1 (P23A)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +2 more	GBenign
Select item 475269	NM_182916.3(TRNT1):c.68= (p.Pro23=)	TRNT1	Single nucleotide variant (no sequence alteration +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GBenign
Select item 403570	NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu)	TRNT1 (P23L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 2129809	NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)	TRNT1 (Q25K)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1068812	NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter)	TRNT1 (Q25*)	Single nucleotide variant (nonsense +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GPathogenic
Select item 1968252	NM_182916.3(TRNT1):c.74A>G (p.Gln25Arg)	TRNT1 (Q25R)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1021371	NM_182916.3(TRNT1):c.74A>C (p.Gln25Pro)	TRNT1 (Q25P)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1348519	NM_182916.3(TRNT1):c.75G>T (p.Gln25His)	TRNT1 (Q25H)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2166343	NM_182916.3(TRNT1):c.79C>G (p.Leu27Val)	TRNT1 (L27V)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 2147154	NM_182916.3(TRNT1):c.79C>T (p.Leu27=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 2001045	NM_182916.3(TRNT1):c.81A>T (p.Leu27=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 851985	NM_182916.3(TRNT1):c.88A>G (p.Met30Val)	TRNT1 (M30V)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance
Select item 1566525	NM_182916.3(TRNT1):c.93G>A (p.Lys31=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GLikely benign
Select item 383920	NM_182916.3(TRNT1):c.105C>T (p.Pro35=)	TRNT1	Single nucleotide variant (synonymous variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome +1 more	GBenign/Likely benign
Select item 1352537	NM_182916.3(TRNT1):c.106G>A (p.Glu36Lys)	TRNT1 (E36K)	Single nucleotide variant (missense variant +1 more)	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	GUncertain significance

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