C3281201[trait identifier] AND "3billion"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 817019	NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs)	ARID1B (G434fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1320109	NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter)	ARID1B (Y520*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 426825	NM_001374828.1(ARID1B):c.1649_1659del (p.Gln550fs)	ARID1B (Q467fs +1 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +1 more	GPathogenic
Select item 2444310	NM_001374828.1(ARID1B):c.1853dup (p.His619fs)	ARID1B (H619fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 450773	NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter)	ARID1B (Q788* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 199160	NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)	ARID1B (R898* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +2 more	GPathogenic
Select item 438752	NM_001374828.1(ARID1B):c.3714+1G>A	ARID1B	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2572384	NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)	ARID1B (K1047* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2572434	NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)	ARID1B (Y1077* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 1526143	NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs)	ARID1B (E1223fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2444091	NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)	ARID1B (L1259fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2572493	NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)	ARID1B (Y1352* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1705320	NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)	ARID1B (Y1497fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 598563	NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter)	ARID1B (Y765* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +1 more	GPathogenic
Select item 1333545	NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs)	ARID1B (G1550fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1320276	NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter)	ARID1B (Q1687* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 1705573	NM_001374828.1(ARID1B):c.5395-1G>A	ARID1B	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1705605	NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)	ARID1B (S1747fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1526206	NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs)	ARID1B (G1748fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1687313	NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs)	ARID1B (E1040fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 689668	NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)	ARID1B (E1756fs +4 more)	Deletion (frameshift variant)	Marfanoid habitus and intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 2444268	NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)	ARID1B (F1074fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 434390	NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)	ARID1B (F1088fs +3 more)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 210302	NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)	ARID1B (R1802* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1320110	NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs)	ARID1B (R1135fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 280569	NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs)	ARID1B (S1141fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1320053	NM_001374828.1(ARID1B):c.6094del (p.Gln2032fs)	ARID1B (Q1199fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 2572554	NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)	ARID1B (C1222fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 2444207	NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)	ARID1B (E1374* +6 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 448984	NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)	ARID1B (R2128* +4 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +2 more	GPathogenic
Select item 1687160	NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs)	ARID1B (M1459fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31