"Invitae"[submitter] AND "LOC130067862"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1949655	NM_001953.5(TYMP):c.1438C>G (p.Pro480Ala)	LOC130067862, SCO2 +1 more (P485A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787324	NM_001953.5(TYMP):c.1437G>T (p.Pro479=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1617629	NM_001953.5(TYMP):c.1437G>A (p.Pro479=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 223013	NM_001953.5(TYMP):c.1432C>T (p.Leu478=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409138	NM_001953.5(TYMP):c.1429G>A (p.Val477Ile)	TYMP, SCO2 +1 more (V477I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971508	NM_001953.5(TYMP):c.1428C>A (p.Leu476=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1964571	NM_001953.5(TYMP):c.1428C>G (p.Leu476=)	LOC130067862, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1153631	NM_001953.5(TYMP):c.1428C>T (p.Leu476=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776479	NM_001953.5(TYMP):c.1425G>A (p.Glu475=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1975288	NM_001953.5(TYMP):c.1421C>T (p.Ala474Val)	LOC130067862, SCO2 +1 more (A474V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1093209	NM_001953.5(TYMP):c.1419C>T (p.Phe473=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2095003	NM_001953.5(TYMP):c.1416C>A (p.Pro472=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1144061	NM_001953.5(TYMP):c.1416C>T (p.Pro472=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 817030	NM_001953.5(TYMP):c.1416del (p.Phe473fs)	LOC130067862, SCO2 +1 more (F478fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1093392	NM_001953.5(TYMP):c.1413G>A (p.Ser471=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 130693	NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)	LOC130067862, SCO2 +1 more (S471L +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign
Select item 1093610	NM_001953.5(TYMP):c.1410C>T (p.Pro470=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998520	NM_001953.5(TYMP):c.1407C>A (p.Ala469=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983445	NM_001953.5(TYMP):c.1407C>T (p.Ala469=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018155	NM_001953.5(TYMP):c.1405G>A (p.Ala469Thr)	LOC130067862, SCO2 +1 more (A474T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932047	NM_001953.5(TYMP):c.1405G>T (p.Ala469Ser)	SCO2, TYMP +1 more (A474S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 990765	NM_001953.5(TYMP):c.1404C>T (p.Ala468=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 223011	NM_001953.5(TYMP):c.1401C>T (p.Phe467=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1957273	NM_001953.5(TYMP):c.1399T>C (p.Phe467Leu)	LOC130067862, SCO2 +1 more (F472L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1617807	NM_001953.5(TYMP):c.1398A>C (p.Pro466=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2099724	NM_001953.5(TYMP):c.1395G>C (p.Ala465=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 137878	NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)	TYMP, LOC130067862 +1 more (A465T +1 more)	Single nucleotide variant (missense variant +1 more)	TYMP-related condition +4 more	GBenign/Likely benign
Select item 2996845	NM_001953.5(TYMP):c.1392C>T (p.Arg464=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 384577	NM_001953.5(TYMP):c.1389C>T (p.Asp463=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2862639	NM_001953.5(TYMP):c.1386C>G (p.Ser462=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2151897	NM_001953.5(TYMP):c.1386C>A (p.Ser462=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1949495	NM_001953.5(TYMP):c.1385C>G (p.Ser462Cys)	SCO2, TYMP +1 more (S467C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2139995	NM_001953.5(TYMP):c.1381C>G (p.Leu461Val)	TYMP, LOC130067862 +1 more (L466V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1117052	NM_001953.5(TYMP):c.1380A>T (p.Val460=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007194	NM_001953.5(TYMP):c.1377C>G (p.Leu459=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 754808	NM_001953.5(TYMP):c.1377C>T (p.Leu459=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1151798	NM_001953.5(TYMP):c.1374G>C (p.Ala458=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1617196	NM_001953.5(TYMP):c.1368G>A (p.Gln456=)	TYMP, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1140457	NM_001953.5(TYMP):c.1363C>T (p.Leu455=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 666945	NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs)	LOC130067862, SCO2 +1 more (L452fs +1 more)	Deletion (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2125309	NM_001953.5(TYMP):c.1357dup (p.Arg453fs)	LOC130067862, SCO2 +1 more (R453fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1449710	NM_001953.5(TYMP):c.1330_1351del (p.Gly444fs)	LOC130067862, SCO2 +1 more (G444fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1986216	NM_001953.5(TYMP):c.1347C>T (p.Gly449=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 223086	NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs)	TYMP, LOC130067862 +1 more (D443fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1544228	NM_001953.5(TYMP):c.1344C>T (p.Ser448=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2025334	NM_001953.5(TYMP):c.1338G>A (p.Ala446=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1381231	NM_001953.5(TYMP):c.1336G>A (p.Ala446Thr)	LOC130067862, SCO2 +1 more (A446T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1648955	NM_001953.5(TYMP):c.1335C>G (p.Pro445=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878809	NM_001953.5(TYMP):c.1332C>G (p.Gly444=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902289	NM_001953.5(TYMP):c.1329C>T (p.Asp443=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1904712	NM_001953.5(TYMP):c.1329C>G (p.Asp443Glu)	LOC130067862, SCO2 +1 more (D443E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2201977	NM_001953.5(TYMP):c.1327G>A (p.Asp443Asn)	LOC130067862, SCO2 +1 more (D443N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150805	NM_001953.5(TYMP):c.1327G>C (p.Asp443His)	LOC130067862, SCO2 +1 more (D448H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2147350	NM_001953.5(TYMP):c.1326G>A (p.Arg442=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1432203	NM_001953.5(TYMP):c.1325G>A (p.Arg442Gln)	LOC130067862, SCO2 +1 more (R442Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418087	NM_001953.5(TYMP):c.1324C>T (p.Arg442Trp)	LOC130067862, SCO2 +1 more (R442W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1161441	NM_001953.5(TYMP):c.1323C>T (p.His441=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 215341	NM_001953.5(TYMP):c.1321C>T (p.His441Tyr)	LOC130067862, SCO2 +1 more (H441Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 751064	NM_001953.5(TYMP):c.1320G>A (p.Val440=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1511314	NM_001953.5(TYMP):c.1310G>A (p.Trp437Ter)	LOC130067862, SCO2 +1 more (W437* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1127253	NM_001953.5(TYMP):c.1308C>T (p.Pro436=)	TYMP, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1629698	NM_001953.5(TYMP):c.1305C>T (p.Thr435=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1122402	NM_001953.5(TYMP):c.1305C>A (p.Thr435=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2166293	NM_001953.5(TYMP):c.1304C>T (p.Thr435Ile)	LOC130067862, SCO2 +1 more (T440I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1137062	NM_001953.5(TYMP):c.1302G>A (p.Gly434=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1603756	NM_001953.5(TYMP):c.1301-4G>A	SCO2, TYMP +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1122786	NM_001953.5(TYMP):c.1301-4G>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 763335	NM_001953.5(TYMP):c.1301-9G>A	SCO2, TYMP +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672732	NM_001953.5(TYMP):c.1301-10C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422017	NM_001953.5(TYMP):c.1301-12dup	LOC130067862, SCO2 +1 more	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2897052	NM_001953.5(TYMP):c.1301-12C>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805803	NM_001953.5(TYMP):c.1301-13C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022149	NM_001953.5(TYMP):c.1301-14C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2140088	NM_001953.5(TYMP):c.1301-19dup	LOC130067862, SCO2 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2887282	NM_001953.5(TYMP):c.1301-20A>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966141	NM_001953.5(TYMP):c.1300+15dup	TYMP, LOC130067862 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 2165848	NM_001953.5(TYMP):c.1300+16G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928965	NM_001953.5(TYMP):c.1300+15C>T	TYMP, LOC130067862 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548704	NM_001953.5(TYMP):c.1300+14C>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672205	NM_001953.5(TYMP):c.1300+10G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1105072	NM_001953.5(TYMP):c.1300+9C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849049	NM_001953.5(TYMP):c.1300+8C>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1085299	NM_001953.5(TYMP):c.1300+7G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934951	NM_001953.5(TYMP):c.1300+4A>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1973143	NM_001953.5(TYMP):c.1300+2T>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 223069	NM_001953.5(TYMP):c.1300+1G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1492094	NM_001953.5(TYMP):c.1298G>T (p.Arg433Leu)	LOC130067862, SCO2 +1 more (R433L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 713848	NM_001953.5(TYMP):c.1295G>A (p.Arg432His)	LOC130067862, SCO2 +1 more (R432H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 137877	NM_001953.5(TYMP):c.1290G>A (p.Arg430=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2065894	NM_001953.5(TYMP):c.1288_1289del (p.Arg430fs)	LOC130067862, SCO2 +1 more (R430fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 764097	NM_001953.5(TYMP):c.1287G>A (p.Gln429=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2179831	NM_001953.5(TYMP):c.1284T>C (p.Gly428=)	TYMP, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 137876	NM_001953.5(TYMP):c.1284T>A (p.Gly428=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 223055	NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser)	LOC130067862, SCO2 +1 more (G428S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2881151	NM_001953.5(TYMP):c.1281G>C (p.Val427=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1451054	NM_001953.5(TYMP):c.1279G>C (p.Val427Leu)	LOC130067862, SCO2 +1 more (V427L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2077296	NM_001953.5(TYMP):c.1278C>T (p.Asp426=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1153407	NM_001953.5(TYMP):c.1275C>A (p.Val425=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1102851	NM_001953.5(TYMP):c.1275C>G (p.Val425=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2817428	NM_001953.5(TYMP):c.1272G>A (p.Leu424=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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