Related gene-specific medical variations for Gene (Select 23112) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233316	NM_001162501.2(TNRC6B):c.3461C>G (p.Pro1154Arg)	TNRC6B (P1154R)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3065477	NM_001162501.2(TNRC6B):c.115+5G>T	TNRC6B	Single nucleotide variant (intron variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3065158	NM_001162501.2(TNRC6B):c.880G>A (p.Gly294Arg)	TNRC6B (G294R)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 3065049	NM_001162501.2(TNRC6B):c.2615C>T (p.Pro872Leu)	TNRC6B (P872L)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2920690	NM_001162501.2(TNRC6B):c.1723G>A (p.Gly575Arg)	TNRC6B (G575R)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2690250	NM_001162501.2(TNRC6B):c.2888G>T (p.Gly963Val)	TNRC6B (G216V +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2672191	NM_001162501.2(TNRC6B):c.4402G>A (p.Gly1468Arg)	TNRC6B (G1358R +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2672175	NM_001162501.2(TNRC6B):c.3056del (p.Gly1019fs)	TNRC6B (G1019fs +2 more)	Deletion (frameshift variant)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 2671914	NM_001162501.2(TNRC6B):c.2925G>A (p.Trp975Ter)	TNRC6B (W228* +1 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay with speech and behavioral abnormalities	GLikely pathogenic
Select item 2576091	NM_001162501.2(TNRC6B):c.2212C>G (p.Pro738Ala)	TNRC6B (P738A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575176	NM_001162501.2(TNRC6B):c.830_836del (p.Asn277fs)	TNRC6B (N277fs)	Deletion (frameshift variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GPathogenic
Select item 2442186	NM_001162501.2(TNRC6B):c.1628G>C (p.Gly543Ala)	TNRC6B (G543A)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2441944	NM_001162501.2(TNRC6B):c.4121G>T (p.Gly1374Val)	TNRC6B (G1264V +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2437164	NM_001162501.2(TNRC6B):c.1111G>A (p.Asp371Asn)	TNRC6B (D371N)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2437163	NM_001162501.2(TNRC6B):c.4592C>G (p.Ser1531Cys)	TNRC6B (S1421C +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2437162	NM_001162501.2(TNRC6B):c.157G>A (p.Ala53Thr)	TNRC6B (A53T +1 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2437160	NM_001162501.2(TNRC6B):c.2927G>A (p.Gly976Glu)	TNRC6B (G229E +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2437159	NM_001162501.2(TNRC6B):c.2420A>C (p.Asn807Thr)	TNRC6B (N807T)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 2430083	NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)	TNRC6B (Q881*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 2430082	NM_001162501.2(TNRC6B):c.2233G>A (p.Gly745Arg)	TNRC6B (G745R)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 1701738	NM_001162501.2(TNRC6B):c.530A>G (p.Asn177Ser)	TNRC6B (N177S)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 1701737	NM_001162501.2(TNRC6B):c.4876G>A (p.Gly1626Arg)	TNRC6B (G1516R +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 1700133	NM_001162501.2(TNRC6B):c.2189del (p.Gln730fs)	TNRC6B (Q730fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696487	NM_001162501.2(TNRC6B):c.2489C>T (p.Pro830Leu)	TNRC6B (P830L)	Single nucleotide variant (missense variant +1 more)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 1679778	NM_001162501.2(TNRC6B):c.3392G>A (p.Ser1131Asn)	TNRC6B (S1078N +2 more)	Single nucleotide variant (missense variant)	Global developmental delay with speech and behavioral abnormalities	GUncertain significance
Select item 1676532	NM_001162501.2(TNRC6B):c.4663G>A (p.Val1555Ile)	TNRC6B (V1445I +2 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676524	NM_001162501.2(TNRC6B):c.3163A>G (p.Asn1055Asp)	TNRC6B (N1002D +2 more)	Single nucleotide variant	Global developmental delay with speech and behavioral abnormalities +1 more	GUncertain significance
Select item 1341761	NM_001024843.2(TNRC6B):c.104A>C (p.Glu35Ala)	TNRC6B (E35A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1174099	NM_001162501.2(TNRC6B):c.5+1G>A	TNRC6B	Single nucleotide variant (intron variant +1 more)	Global developmental delay	GUncertain significance

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Links from Gene

Items: 29