ClinVar for MedGen (Select 462796) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 879758	NM_001143985.1(BANF1):c.-105G>A	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
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 877795	NM_003860.4(BANF1):c.*143T>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 790644	NM_003860.4(BANF1):c.204C>T (p.Gly68=)	BANF1	Single nucleotide variant (synonymous variant)	Nestor-Guillermo progeria syndrome +1 more	GBenign
Select item 305412	NM_003860.4(BANF1):c.*273C>G	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
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 305410	NM_003860.4(BANF1):c.*177G>A	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GBenign
Select item 305409	NM_003860.4(BANF1):c.*128C>A	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GBenign
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 305407	NM_003860.4(BANF1):c.*64T>A	BANF1	Single nucleotide variant (3 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
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 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 305404	NM_003860.4(BANF1):c.-70T>G	BANF1	Single nucleotide variant (intron variant +1 more)	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 305402	NM_001143985.1(BANF1):c.-86G>A	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305401	NM_001143985.1(BANF1):c.-192G>C	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GBenign
Select item 305400	NM_001143985.1(BANF1):c.-221T>G	BANF1	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GBenign
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 305398	NM_001143985.1(BANF1):c.-254G>T	BANF1	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 305396	NM_001242481.2(EIF1AD):c.-329G>A	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
Select item 305395	NM_001242481.2(EIF1AD):c.-322_-321dup	BANF1, EIF1AD +1 more	Duplication (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305394	NM_001242481.2(EIF1AD):c.-316C>T	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305393	NM_001242481.2(EIF1AD):c.-308C>G	EIF1AD, LOC130006089 +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305392	NM_001242481.2(EIF1AD):c.-297T>C	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR 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

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Items: 28