BANF1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 305392	NM_001143985.1(BANF1):c.-440A>G	EIF1AD, LOC130006089 +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305393	NM_001143985.1(BANF1):c.-429G>C	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305394	NM_001143985.1(BANF1):c.-421G>A	EIF1AD, LOC130006089 +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305395	NM_001143985.1(BANF1):c.-415_-414dup	BANF1, EIF1AD +1 more	Duplication (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305396	NM_001143985.1(BANF1):c.-408C>T	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
Select item 305397	NM_001143985.1(BANF1):c.-297G>A	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
Select item 305398	NM_001143985.1(BANF1):c.-254G>T	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
Select item 305399	NM_001143985.1(BANF1):c.-230C>T	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305400	NM_001143985.1(BANF1):c.-221T>G	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome +1 more	GBenign
Select item 305401	NM_001143985.1(BANF1):c.-192G>C	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome +1 more	GBenign
Select item 879758	NM_001143985.1(BANF1):c.-105G>A	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305402	NM_001143985.1(BANF1):c.-86G>A	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305403	NM_001143985.1(BANF1):c.-35A>T	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305404	NM_003860.4(BANF1):c.-70T>G	BANF1	Single nucleotide variant (intron variant +1 more)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305405	NM_003860.4(BANF1):c.-62A>G	BANF1, LOC130006090	Single nucleotide variant (5 prime UTR variant +1 more)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 879759	NM_003860.4(BANF1):c.-60C>T	BANF1, LOC130006090	Single nucleotide variant (5 prime UTR variant +1 more)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 1265531	NM_003860.4(BANF1):c.-16-303T>C	BANF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272135	NM_003860.4(BANF1):c.-16-293G>A	BANF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296891	NM_003860.4(BANF1):c.-16-161G>A	BANF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266370	NM_003860.4(BANF1):c.-16-48A>G	BANF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305406	NM_003860.4(BANF1):c.9C>T (p.Thr3=)	BANF1	Single nucleotide variant (synonymous variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 30390	NM_003860.4(BANF1):c.34G>A (p.Ala12Thr)	BANF1 (A12T)	Single nucleotide variant (missense variant)	Nestor-Guillermo progeria syndrome	GPathogenic
Select item 1241972	NM_003860.4(BANF1):c.123+109G>A	BANF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266005	NM_003860.4(BANF1):c.124-37_124-31del	BANF1	Microsatellite (intron variant)	not provided	GBenign
Select item 790644	NM_003860.4(BANF1):c.204C>T (p.Gly68=)	BANF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 305407	NM_003860.4(BANF1):c.*64T>A	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 877794	NM_003860.4(BANF1):c.*100C>T	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
Select item 305408	NM_003860.4(BANF1):c.*120T>A	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305409	NM_003860.4(BANF1):c.*128C>A	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome +1 more	GBenign
Select item 877795	NM_003860.4(BANF1):c.*143T>A	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305410	NM_003860.4(BANF1):c.*177G>A	BANF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 877796	NM_003860.4(BANF1):c.*182T>C	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305411	NM_003860.4(BANF1):c.*209T>G	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305412	NM_003860.4(BANF1):c.*273C>G	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome +1 more	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 47