BANF1[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +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 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

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Items: 27