ClinVar for MedGen (Select 340048) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254867	NM_006593.4(TBR1):c.1220dup (p.Thr408fs)	TBR1 (T408fs)	Duplication (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 3242447	NM_006593.4(TBR1):c.163dup (p.Ile55fs)	TBR1 (I55fs)	Duplication (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 3068411	NM_006593.4(TBR1):c.880A>C (p.Asn294His)	TBR1 (N294H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 3067907	NM_006593.4(TBR1):c.440C>G (p.Ala147Gly)	TBR1 (A147G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 3065986	NM_006593.4(TBR1):c.1190+2T>G	TBR1	Single nucleotide variant (splice donor variant)	Autism, susceptibility to, 5	GPathogenic
Select item 3064382	NM_006593.4(TBR1):c.1312A>G (p.Ser438Gly)	TBR1 (S438G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GLikely benign
Select item 3024218	NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu)	TBR1	Single nucleotide variant (stop lost)	Autism, susceptibility to, 5	GUncertain significance
Select item 2690224	NM_006593.4(TBR1):c.559G>C (p.Ala187Pro)	TBR1 (A187P)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2690223	NM_006593.4(TBR1):c.1175G>A (p.Arg392Gln)	TBR1 (R392Q)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2683943	NM_006593.4(TBR1):c.691A>G (p.Arg231Gly)	TBR1 (R231G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GLikely pathogenic
Select item 2664026	NM_006593.4(TBR1):c.661C>A (p.Gln221Lys)	TBR1 (Q221K)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2627895	NM_006593.4(TBR1):c.748T>C (p.Tyr250His)	TBR1 (Y250H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2573063	NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)	TBR1 (I139fs)	Microsatellite (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 2504591	NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)	TBR1 (A591T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2436985	NM_006593.4(TBR1):c.251C>G (p.Ser84Cys)	TBR1 (S84C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2436984	NM_006593.4(TBR1):c.1370C>G (p.Thr457Arg)	TBR1 (T457R)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2436983	NM_006593.4(TBR1):c.164T>C (p.Ile55Thr)	TBR1 (I55T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5 +1 more	GUncertain significance
Select item 2436982	NM_006593.4(TBR1):c.287G>A (p.Ser96Asn)	TBR1 (S96N)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2434094	NM_006593.4(TBR1):c.1349_1355dup (p.Pro453fs)	TBR1 (P453fs)	Duplication (frameshift variant)	Autism, susceptibility to, 5	GLikely pathogenic
Select item 2431857	NM_006593.4(TBR1):c.1271G>A (p.Arg424His)	TBR1 (R424H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2431841	NM_006593.4(TBR1):c.913T>C (p.Ser305Pro)	TBR1 (S305P)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 2428648	NM_006593.4(TBR1):c.1168G>C (p.Gly390Arg)	TBR1 (G390R)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GLikely pathogenic
Select item 1895456	NM_006593.4(TBR1):c.1126G>C (p.Asp376His)	TBR1 (D376H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 1878590	NM_006593.4(TBR1):c.842T>C (p.Val281Ala)	TBR1 (V281A)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1804068	NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)	TBR1 (S417*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, 5	GPathogenic
Select item 1783257	NM_006593.4(TBR1):c.1952C>T (p.Ser651Leu)	TBR1 (S651L)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1778505	NM_006593.4(TBR1):c.1709C>T (p.Ala570Val)	TBR1 (A570V)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1777190	NM_006593.4(TBR1):c.1648C>T (p.Pro550Ser)	TBR1 (P550S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710258	NM_006593.4(TBR1):c.1206T>A (p.Cys402Ter)	TBR1 (C402*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, 5	GLikely pathogenic
Select item 1696660	NM_006593.4(TBR1):c.853C>G (p.Arg285Gly)	TBR1 (R285G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1683641	NM_006593.4(TBR1):c.73C>A (p.Pro25Thr)	TBR1 (P25T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1342892	NM_006593.4(TBR1):c.1162G>C (p.Ala388Pro)	TBR1 (A388P)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1321256	NM_006593.4(TBR1):c.1191-5C>A	TBR1	Single nucleotide variant (intron variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1319925	NM_006593.4(TBR1):c.1155C>A (p.Asn385Lys)	TBR1 (N385K)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1308658	NM_006593.4(TBR1):c.969+1G>C	TBR1	Single nucleotide variant (splice donor variant)	Autism, susceptibility to, 5	GPathogenic
Select item 1300130	NM_006593.4(TBR1):c.284A>G (p.His95Arg)	TBR1 (H95R)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 1299335	NM_006593.4:c.(1128+1_1129-1)_(1190+1_1191-1)del	TBR1	Deletion	Autism, susceptibility to, 5	GLikely pathogenic
Select item 1164049	NM_006593.4(TBR1):c.1132A>T (p.Thr378Ser)	TBR1 (T378S)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 997007	NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly)	TBR1 (S650G)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 931074	NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr)	TBR1 (P606T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GUncertain significance
Select item 807510	NM_006593.4(TBR1):c.1731dup (p.Ala578fs)	TBR1 (A578fs)	Duplication (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 801771	NM_006593.4(TBR1):c.1547del (p.Tyr516fs)	LOC129935026, TBR1 (Y516fs)	Deletion (frameshift variant)	Autism, susceptibility to, 5	GLikely pathogenic
Select item 599053	NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu)	TBR1 (K389E)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 599052	NM_006593.4(TBR1):c.813G>T (p.Trp271Cys)	TBR1 (W271C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 599051	NM_006593.4(TBR1):c.1120A>C (p.Asn374His)	TBR1	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 599050	NM_006593.4(TBR1):c.682A>G (p.Lys228Glu)	TBR1	Single nucleotide variant (missense variant)	Autism, susceptibility to, 5	GPathogenic
Select item 599049	NM_006593.4(TBR1):c.1049dup (p.Thr350_Ser351insTer)	TBR1	Duplication (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 599048	NM_006593.4(TBR1):c.405del (p.Ala136fs)	TBR1 (A136fs)	Deletion (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 588241	NM_006593.4(TBR1):c.592G>C (p.Gly198Arg)	TBR1 (G198R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588193	NM_006593.4(TBR1):c.1134A>G (p.Thr378=)	TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 587992	NM_006593.4(TBR1):c.358C>T (p.Pro120Ser)	TBR1 (P120S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 587787	NM_006593.4(TBR1):c.*10G>A	TBR1	Single nucleotide variant (3 prime UTR variant)	Autism, susceptibility to, 5 +2 more	GBenign
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies +12 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 54