Related gene-specific medical variations for Gene (Select 23067) - ClinVar

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

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154078	NM_019034.3(RHOF):c.185T>C (p.Val62Ala)	RHOF, SETD1B (V62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067952	NM_001353345.2(SETD1B):c.5126dup (p.Asn1709fs)	SETD1B (N1709fs)	Duplication (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 3065322	NM_001353345.2(SETD1B):c.1720C>T (p.Pro574Ser)	SETD1B (P574S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2689950	NM_001353345.2(SETD1B):c.3671C>T (p.Ala1224Val)	SETD1B (A1224V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2689949	NM_001353345.2(SETD1B):c.17C>G (p.Pro6Arg)	SETD1B (P6R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2683932	NM_001353345.2(SETD1B):c.5263A>G (p.Ile1755Val)	SETD1B (I1755V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2582414	NM_001353345.2(SETD1B):c.4390T>C (p.Ser1464Pro)	SETD1B (S1464P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2580203	NM_001353345.2(SETD1B):c.5372C>G (p.Thr1791Ser)	SETD1B (T1791S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2455213	NM_019034.3(RHOF):c.106C>T (p.Leu36Phe)	RHOF, SETD1B (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441992	NM_001353345.2(SETD1B):c.5171-5C>G	SETD1B	Single nucleotide variant (intron variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2438172	NM_001353345.2(SETD1B):c.62C>A (p.Ser21Ter)	SETD1B (S21*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 2435855	NM_001353345.2(SETD1B):c.2402C>T (p.Ala801Val)	SETD1B (A801V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435854	NM_001353345.2(SETD1B):c.1424A>T (p.Glu475Val)	SETD1B (E475V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435853	NM_001353345.2(SETD1B):c.273+2T>C	SETD1B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435852	NM_001353345.2(SETD1B):c.931C>T (p.Arg311Trp)	SETD1B (R311W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435851	NM_001353345.2(SETD1B):c.4673C>A (p.Thr1558Asn)	SETD1B (T1558N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435850	NM_001353345.2(SETD1B):c.4630G>A (p.Ala1544Thr)	SETD1B (A1544T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435849	NM_001353345.2(SETD1B):c.2776G>C (p.Asp926His)	SETD1B (D926H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435848	NM_001353345.2(SETD1B):c.4133C>T (p.Thr1378Met)	SETD1B (T1378M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2433313	NM_001353345.2(SETD1B):c.4170del (p.Gly1392fs)	SETD1B (G1392fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2433311	NM_001353345.2(SETD1B):c.2241del (p.Pro749fs)	SETD1B (P749fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2328803	NM_019034.3(RHOF):c.198G>T (p.Glu66Asp)	RHOF, SETD1B (E66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244252	NM_019034.3(RHOF):c.203C>T (p.Thr68Ile)	RHOF, SETD1B (T68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803069	NM_001353345.2(SETD1B):c.5860T>C (p.Cys1954Arg)	SETD1B (C1954R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1696520	NM_001353345.2(SETD1B):c.4766A>G (p.Gln1589Arg)	SETD1B (Q1589R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1696466	NM_001353345.2(SETD1B):c.4465G>A (p.Val1489Ile)	SETD1B (V1489I)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1693309	NM_001353345.2(SETD1B):c.4688G>A (p.Ser1563Asn)	SETD1B (S1563N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1679676	NM_001353345.2(SETD1B):c.5009G>A (p.Arg1670Gln)	SETD1B (R1670Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1342617	NM_001353345.2(SETD1B):c.2755G>A (p.Glu919Lys)	SETD1B (E919K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1342451	NM_001353345.2(SETD1B):c.2672G>A (p.Arg891Gln)	SETD1B (R891Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1342327	NM_001353345.2(SETD1B):c.4361G>A (p.Arg1454Gln)	SETD1B (R1454Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 1332879	NM_001353345.2(SETD1B):c.5619T>G (p.Tyr1873Ter)	SETD1B (Y1873*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1325530	NM_001353345.2(SETD1B):c.2033C>A (p.Thr678Asn)	SETD1B (T678N)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1213699	NM_001353345.2(SETD1B):c.1579C>T (p.Gln527Ter)	SETD1B (Q527*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 996847	NM_001353345.2(SETD1B):c.1558C>A (p.Pro520Thr)	SETD1B (P520T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 977429	NM_001353345.2(SETD1B):c.3968C>T (p.Pro1323Leu)	SETD1B (P1323L)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36