"GeneDx"[submitter] AND "LOC126653398"[gene] - ClinVar

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Items: 26

	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 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

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Items: 26