11078[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 154588	GRCh38/hg38 22q13.1(chr22:37537317-37803357)x3	CDC42EP1, GGA1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1207035	NM_001039141.3(TRIOBP):c.-60-129G>C	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234293	NM_001039141.3(TRIOBP):c.-60-107_-60-106dup	TRIOBP	Duplication (intron variant)	not provided	GBenign
Select item 43848	NM_001039141.3(TRIOBP):c.-14C>G	TRIOBP	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 229354	NM_001039141.3(TRIOBP):c.-3A>G	TRIOBP	Single nucleotide variant (5 prime UTR variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1312953	NM_001039141.3(TRIOBP):c.41A>G (p.Glu14Gly)	TRIOBP (E14G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504687	NM_001039141.3(TRIOBP):c.64C>T (p.Arg22Cys)	TRIOBP (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2806623	NM_001039141.3(TRIOBP):c.93G>A (p.Glu31=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 228044	NM_001039141.3(TRIOBP):c.96C>T (p.Ala32=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 229352	NM_001039141.3(TRIOBP):c.111C>G (p.Tyr37Ter)	TRIOBP (Y37*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1223706	NM_001039141.3(TRIOBP):c.114+16A>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1178629	NM_001039141.3(TRIOBP):c.114+252T>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182574	NM_001039141.3(TRIOBP):c.114+256T>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243015	NM_001039141.3(TRIOBP):c.115-326C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259560	NM_001039141.3(TRIOBP):c.115-209T>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215904	NM_001039141.3(TRIOBP):c.115-177C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261002	NM_001039141.3(TRIOBP):c.115-175A>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196547	NM_001039141.3(TRIOBP):c.115-148C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212232	NM_001039141.3(TRIOBP):c.115-74G>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220422	NM_001039141.3(TRIOBP):c.115-55G>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215413	NM_001039141.3(TRIOBP):c.115-35C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517391	NM_001039141.3(TRIOBP):c.115-12A>T	TRIOBP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 502255	NM_001039141.3(TRIOBP):c.118C>T (p.Leu40Phe)	TRIOBP (L40F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627487	NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter)	TRIOBP (S44*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 626273	NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn)	TRIOBP (D52N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978882	NM_001039141.3(TRIOBP):c.157C>G (p.Leu53Val)	TRIOBP (L53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200524	NM_001039141.3(TRIOBP):c.163C>T (p.Arg55Ter)	TRIOBP (R55*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 165581	NM_001039141.3(TRIOBP):c.202A>T (p.Thr68Ser)	TRIOBP (T68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43849	NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)	TRIOBP (T68A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1923790	NM_001039141.3(TRIOBP):c.203C>T (p.Thr68Ile)	TRIOBP (T68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498904	NM_001039141.3(TRIOBP):c.231A>T (p.Pro77=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498905	NM_001039141.3(TRIOBP):c.237C>G (p.Leu79=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499105	NM_001039141.3(TRIOBP):c.251_254+22del	TRIOBP	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1698042	NM_001039141.3(TRIOBP):c.254+4G>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1216534	NM_001039141.3(TRIOBP):c.254+120G>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246445	NM_001039141.3(TRIOBP):c.254+173dup	TRIOBP	Duplication (intron variant)	not provided	GBenign
Select item 1274056	NM_001039141.3(TRIOBP):c.255-252AAAT[11]	TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1198717	NM_001039141.3(TRIOBP):c.255-252AAAT[12]	TRIOBP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1245265	NM_001039141.3(TRIOBP):c.255-252AAAT[8]	TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1238906	NM_001039141.3(TRIOBP):c.255-252AAAT[9]	TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1213014	NM_001039141.3(TRIOBP):c.255-242del	TRIOBP	Deletion (intron variant)	not provided	GLikely benign
Select item 1190950	NM_001039141.3(TRIOBP):c.255-240_255-234del	TRIOBP	Deletion (intron variant)	not provided	GLikely benign
Select item 1277930	NM_001039141.3(TRIOBP):c.255-112C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224793	NM_001039141.3(TRIOBP):c.255-102G>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1656655	NM_001039141.3(TRIOBP):c.255-11T>C	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874805	NM_001039141.3(TRIOBP):c.255-10C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165582	NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)	TRIOBP (P89A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 228028	NM_001039141.3(TRIOBP):c.273A>G (p.Ala91=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 930054	NM_001039141.3(TRIOBP):c.301G>A (p.Ala101Thr)	TRIOBP (A101T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1878779	NM_001039141.3(TRIOBP):c.328G>A (p.Glu110Lys)	TRIOBP (E110K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666768	NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 790776	NM_001039141.3(TRIOBP):c.365T>C (p.Leu122Ser)	TRIOBP (L122S)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GLikely benign
Select item 1194304	NM_001039141.3(TRIOBP):c.381C>T (p.Asn127=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582116	NM_001039141.3(TRIOBP):c.382G>A (p.Glu128Lys)	TRIOBP (E128K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43850	NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)	TRIOBP (G131S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3052622	NM_001039141.3(TRIOBP):c.395C>G (p.Ser132Cys)	TRIOBP (S132C)	Single nucleotide variant (missense variant)	TRIOBP-related condition	GUncertain significance
Select item 228029	NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)	TRIOBP (S137G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2428977	NM_001039141.3(TRIOBP):c.433G>A (p.Asp145Asn)	TRIOBP (D145N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290807	NM_001039141.3(TRIOBP):c.446C>T (p.Ser149Leu)	TRIOBP (S149L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575697	NM_001039141.3(TRIOBP):c.455T>C (p.Val152Ala)	TRIOBP (V152A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214632	NM_001039141.3(TRIOBP):c.457-271G>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003465	NM_001039141.3(TRIOBP):c.457-12C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165583	NM_001039141.3(TRIOBP):c.477G>T (p.Arg159Ser)	TRIOBP (R159S)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 178553	NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1191916	NM_001039141.3(TRIOBP):c.497G>C (p.Ser166Thr)	TRIOBP (S166T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 227126	NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu)	TRIOBP (D168E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2179316	NM_001039141.3(TRIOBP):c.510C>T (p.Leu170=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456168	NM_001039141.3(TRIOBP):c.525G>A (p.Pro175=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327738	NM_001039141.3(TRIOBP):c.536G>T (p.Arg179Leu)	TRIOBP (R179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 828103	NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro)	TRIOBP (R179P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 805685	NM_001039141.3(TRIOBP):c.567G>T (p.Arg189Ser)	TRIOBP (R189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578291	NM_001039141.3(TRIOBP):c.572C>T (p.Pro191Leu)	TRIOBP (P191L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 178554	NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)	TRIOBP (T195I)	Single nucleotide variant (missense variant)	TRIOBP-related condition +3 more	GBenign/Likely benign
Select item 1223794	NM_001039141.3(TRIOBP):c.587G>C (p.Arg196Thr)	TRIOBP (R196T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204744	NM_001039141.3(TRIOBP):c.594T>C (p.Pro198=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898166	NM_001039141.3(TRIOBP):c.628+18G>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343919	NM_001039141.3(TRIOBP):c.628+94dup	TRIOBP	Duplication (intron variant)	not provided	GLikely benign
Select item 1200892	NM_001039141.3(TRIOBP):c.628+94A>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281285	NM_001039141.3(TRIOBP):c.628+284T>C	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 1202266	NM_001039141.3(TRIOBP):c.629-281T>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220254	NM_001039141.3(TRIOBP):c.629-26C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312592	NM_001039141.3(TRIOBP):c.629-17CT[2]	TRIOBP	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1346144	NM_001039141.3(TRIOBP):c.629-1G>C	TRIOBP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1192903	NM_001039141.3(TRIOBP):c.633C>T (p.Thr211=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287640	NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)	TRIOBP (G212S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1216799	NM_001039141.3(TRIOBP):c.636C>T (p.Gly212=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346327	NM_001039141.3(TRIOBP):c.637G>A (p.Gly213Ser)	TRIOBP (G213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191087	NM_001039141.3(TRIOBP):c.638G>A (p.Gly213Asp)	TRIOBP (G213D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712721	NM_001039141.3(TRIOBP):c.646C>T (p.Arg216Trp)	TRIOBP (R216W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072665	NM_001039141.3(TRIOBP):c.647G>A (p.Arg216Gln)	TRIOBP (R216Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508110	NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn)	TRIOBP (S217N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1248187	NM_001039141.3(TRIOBP):c.651C>T (p.Ser217=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2683572	NM_001039141.3(TRIOBP):c.653C>T (p.Ala218Val)	TRIOBP (A218V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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