"GeneDx"[submitter] AND "TSPEAR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1183530	NM_144991.3(TSPEAR):c.*50C>A	TSPEAR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3376031	NM_144991.3(TSPEAR):c.1996_*39del (p.Leu666_Ter670del)	TSPEAR	Deletion (stop lost)	not provided	GUncertain significance
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 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 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 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 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 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 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 +1 more	GConflicting classifications of pathogenicity
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 1193536	NM_144991.3(TSPEAR):c.1857-125G>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1200734	NM_144991.3(TSPEAR):c.1856+2T>C	TSPEAR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 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 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 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 717051	NM_144991.3(TSPEAR):c.1755-7C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1211405	NM_144991.3(TSPEAR):c.1755-65G>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216498	NM_144991.3(TSPEAR):c.1755-322G>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193368	NM_144991.3(TSPEAR):c.1755-325C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187115	NM_144991.3(TSPEAR):c.1754+292G>A	LOC126653398, TSPEAR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1186982	NM_144991.3(TSPEAR):c.1754+144_1754+188del	TSPEAR-AS1, TSPEAR +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 1196193	NM_144991.3(TSPEAR):c.1754+145_1754+172del	LOC126653398, TSPEAR +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1195719	NM_144991.3(TSPEAR):c.1754+58C>T	LOC126653398, TSPEAR +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207370	NM_144991.3(TSPEAR):c.1754+37T>G	LOC126653398, TSPEAR +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505657	NM_144991.3(TSPEAR):c.1754+7G>A	LOC126653398, TSPEAR +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 597169	NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile)	LOC126653398, TSPEAR +1 more (S585I +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +1 more	GConflicting classifications of pathogenicity
Select item 504823	NM_144991.3(TSPEAR):c.1746C>T (p.Leu582=)	LOC126653398, TSPEAR +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 584443	NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)	LOC126653398, TSPEAR +1 more (V508fs +1 more)	Indel (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1800483	NM_144991.3(TSPEAR):c.1714G>A (p.Ala572Thr)	LOC126653398, TSPEAR +1 more (A504T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1431593	NM_144991.3(TSPEAR):c.1714G>C (p.Ala572Pro)	LOC126653398, TSPEAR +1 more (A504P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308514	NM_144991.3(TSPEAR):c.1708G>A (p.Val570Met)	LOC126653398, TSPEAR +1 more (V502M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504824	NM_144991.3(TSPEAR):c.1698C>T (p.Tyr566=)	LOC126653398, TSPEAR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 504868	NM_144991.3(TSPEAR):c.1690G>A (p.Val564Ile)	LOC126653398, TSPEAR +1 more (V564I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3252420	NM_144991.3(TSPEAR):c.1676_1677dup (p.Val560fs)	TSPEAR, LOC126653398 +1 more (V492fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 817061	NM_144991.3(TSPEAR):c.1676_1677del (p.Tyr559fs)	LOC126653398, TSPEAR +1 more (Y559fs +1 more)	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1878908	NM_144991.3(TSPEAR):c.1676A>G (p.Tyr559Cys)	LOC126653398, TSPEAR +1 more (Y491C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 227131	NM_144991.3(TSPEAR):c.1644C>T (p.Tyr548=)	LOC126653398, TSPEAR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 1254742	NM_144991.3(TSPEAR):c.1599G>A (p.Gln533=)	LOC126653398, TSPEAR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3375560	NM_144991.3(TSPEAR):c.1595T>C (p.Phe532Ser)	LOC126653398, TSPEAR +1 more (F464S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1302643	NM_144991.3(TSPEAR):c.1586G>C (p.Trp529Ser)	LOC126653398, TSPEAR +1 more (W461S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1194604	NM_144991.3(TSPEAR):c.1567-41C>T	LOC126653398, TSPEAR +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190051	NM_144991.3(TSPEAR):c.1567-62G>A	LOC126653398, TSPEAR +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178272	NM_144991.3(TSPEAR):c.1567-63C>T	LOC126653398, TSPEAR +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216569	NM_144991.3(TSPEAR):c.1567-155C>T	LOC126653398, TSPEAR +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206590	NM_144991.3(TSPEAR):c.1566+23C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504825	NM_144991.3(TSPEAR):c.1566+12C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 504869	NM_144991.3(TSPEAR):c.1566+5G>A	TSPEAR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1810688	NM_144991.3(TSPEAR):c.1566G>A (p.Pro522=)	TSPEAR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2504711	NM_144991.3(TSPEAR):c.1519C>T (p.Leu507Phe)	TSPEAR (L439F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228046	NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=)	TSPEAR	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +3 more	GLikely benign
Select item 506004	NM_144991.3(TSPEAR):c.1500C>T (p.Ser500=)	TSPEAR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1188184	NM_144991.3(TSPEAR):c.1493_1494delinsTG (p.Gly498Val)	TSPEAR (G430V +1 more)	Indel (missense variant)	not provided	GPathogenic
Select item 1188075	NM_144991.3(TSPEAR):c.1493del (p.Gly498fs)	TSPEAR (G430fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1187498	NM_144991.3(TSPEAR):c.1491C>A (p.Asn497Lys)	TSPEAR (N429K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2430475	NM_144991.3(TSPEAR):c.1466T>C (p.Phe489Ser)	TSPEAR (F421S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573905	NM_144991.3(TSPEAR):c.1448G>T (p.Ser483Ile)	TSPEAR (S415I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2206203	NM_144991.3(TSPEAR):c.1432G>A (p.Asp478Asn)	TSPEAR (D410N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667548	NM_144991.3(TSPEAR):c.1387C>T (p.Arg463Trp)	TSPEAR (R395W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1696874	NM_144991.3(TSPEAR):c.1379C>T (p.Pro460Leu)	TSPEAR (P392L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573747	NM_144991.3(TSPEAR):c.1372T>C (p.Trp458Arg)	TSPEAR (W390R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663076	NM_144991.3(TSPEAR):c.1358G>A (p.Ser453Asn)	TSPEAR (S385N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683310	NM_144991.3(TSPEAR):c.1337-31C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219693	NM_144991.3(TSPEAR):c.1337-65C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289247	NM_144991.3(TSPEAR):c.1337-112C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272339	NM_144991.3(TSPEAR):c.1337-116T>C	TSPEAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296872	NM_144991.3(TSPEAR):c.1337-120C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219606	NM_144991.3(TSPEAR):c.1337-160G>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273203	NM_144991.3(TSPEAR):c.1337-245A>G	TSPEAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196459	NM_144991.3(TSPEAR):c.1337-330C>A	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215443	NM_144991.3(TSPEAR):c.1336+190C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204643	NM_144991.3(TSPEAR):c.1336+77G>C	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196574	NM_144991.3(TSPEAR):c.1336+34A>C	TSPEAR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235949	NM_144991.3(TSPEAR):c.1336+25C>T	TSPEAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2419489	NM_144991.3(TSPEAR):c.1336+2T>A	TSPEAR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 229372	NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=)	TSPEAR	Single nucleotide variant (synonymous variant)	not specified +1 more	GUncertain significance
Select item 512046	NM_144991.3(TSPEAR):c.1317G>A (p.Ala439=)	TSPEAR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1704068	NM_144991.3(TSPEAR):c.1316C>A (p.Ala439Glu)	TSPEAR (A371E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 984377	NM_144991.3(TSPEAR):c.1281G>A (p.Trp427Ter)	TSPEAR (W359* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2662873	NM_144991.3(TSPEAR):c.1274G>A (p.Arg425Gln)	TSPEAR (R357Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329723	NM_144991.3(TSPEAR):c.1247A>C (p.Tyr416Ser)	TSPEAR (Y348S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 227130	NM_144991.3(TSPEAR):c.1224C>G (p.His408Gln)	TSPEAR (H408Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 504871	NM_144991.3(TSPEAR):c.1185G>T (p.Glu395Asp)	TSPEAR (E395D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2136295	NM_144991.3(TSPEAR):c.1178del (p.Pro393fs)	TSPEAR (P325fs +1 more)	Deletion (frameshift variant)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +1 more	GPathogenic/Likely pathogenic

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