LOC126863145[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +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	LOC130067651, LOC130067652 +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 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 1280543	NM_001039141.3(TRIOBP):c.5380-48A>G	TRIOBP, LOC126863145	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1645876	NM_001039141.3(TRIOBP):c.5380-19C>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504693	NM_001039141.3(TRIOBP):c.5380-14C>T	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1201414	NM_001039141.3(TRIOBP):c.5380-13A>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824492	NM_001039141.3(TRIOBP):c.5380-8_5380-6del	LOC126863145, TRIOBP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3328987	NM_001039141.3(TRIOBP):c.5383C>T (p.Pro1795Ser)	LOC126863145, TRIOBP (P82S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 228036	NM_001039141.3(TRIOBP):c.5393C>T (p.Ser1798Leu)	LOC126863145, TRIOBP (S1798L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 708646	NM_001039141.3(TRIOBP):c.5394G>A (p.Ser1798=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1216547	NM_001039141.3(TRIOBP):c.5404A>T (p.Thr1802Ser)	TRIOBP, LOC126863145 (T1802S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1712894	NM_001039141.3(TRIOBP):c.5405C>T (p.Thr1802Ile)	LOC126863145, TRIOBP (T1802I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474998	NM_001039141.3(TRIOBP):c.5410A>G (p.Thr1804Ala)	LOC126863145, TRIOBP (T1804A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203248	NM_001039141.3(TRIOBP):c.5416C>G (p.Gln1806Glu)	LOC126863145, TRIOBP (Q93E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1301561	NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu)	LOC126863145, TRIOBP (K1808E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1609470	NM_001039141.3(TRIOBP):c.5448T>C (p.Asp1816=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065064	NM_001039141.3(TRIOBP):c.5476A>C (p.Thr1826Pro)	LOC126863145, TRIOBP (T113P +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 43860	NM_001039141.3(TRIOBP):c.5487+9A>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2961513	NM_001039141.3(TRIOBP):c.5487+13G>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 228037	NM_001039141.3(TRIOBP):c.5488-14C>T	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 43861	NM_001039141.3(TRIOBP):c.5488-7del	LOC126863145, TRIOBP	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1418201	NM_001039141.3(TRIOBP):c.5488-6C>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 423823	NM_001039141.3(TRIOBP):c.5488-2A>G	LOC126863145, TRIOBP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 797492	NM_001039141.3(TRIOBP):c.5511C>T (p.Ile1837=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303594	NM_001039141.3(TRIOBP):c.5518C>T (p.Arg1840Cys)	LOC126863145, TRIOBP (R127C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690273	NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)	LOC126863145, TRIOBP (R127L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 229359	NM_001039141.3(TRIOBP):c.5519G>A (p.Arg1840His)	LOC126863145, TRIOBP (R1840H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3328989	NM_001039141.3(TRIOBP):c.5525G>C (p.Cys1842Ser)	LOC126863145, TRIOBP (C1842S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 229360	NM_001039141.3(TRIOBP):c.5528C>T (p.Thr1843Met)	LOC126863145, TRIOBP (T1843M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 505084	NM_001039141.3(TRIOBP):c.5529G>A (p.Thr1843=)	TRIOBP, LOC126863145	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 178558	NM_001039141.3(TRIOBP):c.5544C>T (p.Tyr1848=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 43862	NM_001039141.3(TRIOBP):c.5550G>A (p.Val1850=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1920067	NM_001039141.3(TRIOBP):c.5555G>A (p.Arg1852His)	LOC126863145, TRIOBP (R139H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317577	NM_001039141.3(TRIOBP):c.5561A>G (p.Tyr1854Cys)	LOC126863145, TRIOBP (Y141C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 229362	NM_001039141.3(TRIOBP):c.5575C>G (p.His1859Asp)	LOC126863145, TRIOBP (H1859D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247331	NM_001039141.3(TRIOBP):c.5578-41G>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308313	NM_001039141.3(TRIOBP):c.5578-9G>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 177980	NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)	LOC126863145, TRIOBP (A1863V +1 more)	Single nucleotide variant (missense variant)	TRIOBP-related disorder +2 more	GBenign/Likely benign
Select item 1800856	NM_001039141.3(TRIOBP):c.5604G>A (p.Ser1868=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1944053	NM_001039141.3(TRIOBP):c.5627G>A (p.Arg1876Gln)	LOC126863145, TRIOBP (R1876Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954844	NM_001039141.3(TRIOBP):c.5637C>T (p.Ile1879=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2199800	NM_001039141.3(TRIOBP):c.5642C>T (p.Ala1881Val)	LOC126863145, TRIOBP (A1881V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598631	NM_001039141.3(TRIOBP):c.5655C>T (p.Thr1885=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2799770	NM_001039141.3(TRIOBP):c.5687+18C>T	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270872	NM_001039141.3(TRIOBP):c.5687+310A>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 51