TSPEAR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 1183530	NM_144991.3(TSPEAR):c.*50C>A	TSPEAR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1326567	NM_144991.3(TSPEAR):c.*14C>T	TSPEAR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1196921	NM_144991.3(TSPEAR):c.*5G>A	TSPEAR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1218102	NM_144991.3(TSPEAR):c.*4C>T	TSPEAR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1313657	NM_144991.3(TSPEAR):c.2006G>A (p.Arg669His)	TSPEAR (R601H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2908651	NM_144991.3(TSPEAR):c.1995G>A (p.Arg665=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444540	NM_144991.3(TSPEAR):c.1994G>A (p.Arg665Gln)	TSPEAR (R597Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433859	NM_144991.3(TSPEAR):c.1993C>T (p.Arg665Trp)	TSPEAR (R597W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186484	NM_144991.3(TSPEAR):c.1979T>G (p.Leu660Arg)	TSPEAR (L592R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1995619	NM_144991.3(TSPEAR):c.1972G>A (p.Glu658Lys)	TSPEAR (E590K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595696	NM_144991.3(TSPEAR):c.1966G>A (p.Ala656Thr)	TSPEAR (A588T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1931909	NM_144991.3(TSPEAR):c.1965C>T (p.Ser655=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196595	NM_144991.3(TSPEAR):c.1938G>A (p.Thr646=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343182	NM_144991.3(TSPEAR):c.1937C>A (p.Thr646Lys)	TSPEAR (T578K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 229376	NM_144991.3(TSPEAR):c.1937C>T (p.Thr646Met)	TSPEAR (T646M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2430815	NM_144991.3(TSPEAR):c.1934C>T (p.Thr645Ile)	TSPEAR (T577I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183863	NM_144991.3(TSPEAR):c.1925C>T (p.Ala642Val)	TSPEAR (A574V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 229375	NM_144991.3(TSPEAR):c.1925C>G (p.Ala642Gly)	TSPEAR (A642G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1314379	NM_144991.3(TSPEAR):c.1920G>A (p.Trp640Ter)	TSPEAR (W572* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1203962	NM_144991.3(TSPEAR):c.1918T>C (p.Trp640Arg)	TSPEAR (W572R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227135	NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	TSPEAR (D639N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 98 +4 more	GConflicting classifications of pathogenicity
Select item 1905962	NM_144991.3(TSPEAR):c.1910G>A (p.Cys637Tyr)	TSPEAR (C637Y +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2074348	NM_144991.3(TSPEAR):c.1906G>A (p.Gly636Ser)	TSPEAR (G568S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1908461	NM_144991.3(TSPEAR):c.1905C>T (p.Val635=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806398	NM_144991.3(TSPEAR):c.1899dup (p.Thr634fs)	TSPEAR (T566fs +1 more)	Duplication (frameshift variant)	Tooth agenesis, selective, 10	GPathogenic
Select item 2886524	NM_144991.3(TSPEAR):c.1884G>A (p.Ala628=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500176	NM_144991.3(TSPEAR):c.1883C>T (p.Ala628Val)	TSPEAR (A560V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205875	NM_144991.3(TSPEAR):c.1879G>A (p.Val627Met)	TSPEAR (V559M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504822	NM_144991.3(TSPEAR):c.1878C>T (p.Phe626=)	TSPEAR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1197259	NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)	TSPEAR (F558S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2192977	NM_144991.3(TSPEAR):c.1870G>A (p.Glu624Lys)	TSPEAR (E556K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 493326	NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter)	TSPEAR (E624* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 229374	NM_144991.3(TSPEAR):c.1864G>A (p.Gly622Ser)	TSPEAR (G622S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1576827	NM_144991.3(TSPEAR):c.1857-5C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193536	NM_144991.3(TSPEAR):c.1857-125G>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 148857	GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1	LOC130066830, TSPEAR +20 more	Copy number loss	See cases	GUncertain significance
Select item 1250053	NM_144991.3(TSPEAR):c.1856+317C>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186646	NM_144991.3(TSPEAR):c.1856+35C>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982771	NM_144991.3(TSPEAR):c.1856+20G>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1033112	NM_144991.3(TSPEAR):c.1856+19C>T	TSPEAR	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 98 +1 more	GConflicting classifications of pathogenicity
Select item 228050	NM_144991.3(TSPEAR):c.1856+13C>T	TSPEAR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1200734	NM_144991.3(TSPEAR):c.1856+2T>C	TSPEAR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 590273	NM_144991.3(TSPEAR):c.1852T>A (p.Tyr618Asn)	TSPEAR (Y618N +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GPathogenic
Select item 1598101	NM_144991.3(TSPEAR):c.1836G>A (p.Ser612=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 227134	NM_144991.3(TSPEAR):c.1836G>T (p.Ser612=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2243185	NM_144991.3(TSPEAR):c.1834T>C (p.Ser612Pro)	TSPEAR (S544P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2158126	NM_144991.3(TSPEAR):c.1825C>T (p.Arg609Cys)	TSPEAR (R609C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949980	NM_144991.3(TSPEAR):c.1822G>A (p.Gly608Arg)	TSPEAR (G540R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686675	NM_144991.3(TSPEAR):c.1819G>A (p.Asp607Asn)	TSPEAR (D539N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2189440	NM_144991.3(TSPEAR):c.1818C>T (p.Phe606=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430520	NM_144991.3(TSPEAR):c.1805T>C (p.Val602Ala)	TSPEAR (V534A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501565	NM_144991.3(TSPEAR):c.1804G>A (p.Val602Met)	TSPEAR (V534M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705559	NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)	TSPEAR (E528del +1 more)	Microsatellite (inframe_deletion)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +1 more	GConflicting classifications of pathogenicity
Select item 2167467	NM_144991.3(TSPEAR):c.1788A>T (p.Glu596Asp)	TSPEAR (E596D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 229373	NM_144991.3(TSPEAR):c.1786G>A (p.Glu596Lys)	TSPEAR (E596K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2883825	NM_144991.3(TSPEAR):c.1783G>T (p.Gly595Ter)	TSPEAR (G595* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 227133	NM_144991.3(TSPEAR):c.1779G>A (p.Ser593=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1208565	NM_144991.3(TSPEAR):c.1778C>T (p.Ser593Leu)	TSPEAR (S525L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2652757	NM_144991.3(TSPEAR):c.1770G>A (p.Glu590=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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