"Invitae"[submitter] AND "LOC126862609"[gene] - ClinVar

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Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3000773	NM_004859.4(CLTC):c.3966T>C (p.Ile1322=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905836	NM_004859.4(CLTC):c.3969A>G (p.Leu1323=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810391	NM_004859.4(CLTC):c.3976A>G (p.Lys1326Glu)	CLTC, LOC126862609 (K1326E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627002	NM_004859.4(CLTC):c.4002G>A (p.Glu1334=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086526	NM_004859.4(CLTC):c.4041+8G>A	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805672	NM_004859.4(CLTC):c.4042-14T>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621692	NM_004859.4(CLTC):c.4042-10_4042-7del	CLTC, LOC126862609	Microsatellite (intron variant)	CLTC-related condition +1 more	GBenign
Select item 2870574	NM_004859.4(CLTC):c.4042-13C>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616141	NM_004859.4(CLTC):c.4042-5T>C	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822625	NM_004859.4(CLTC):c.4050A>G (p.Arg1350=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013107	NM_004859.4(CLTC):c.4053T>A (p.Ala1351=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894557	NM_004859.4(CLTC):c.4068T>C (p.His1356=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798899	NM_004859.4(CLTC):c.4069C>G (p.Leu1357Val)	CLTC, LOC126862609 (L1357V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949733	NM_004859.4(CLTC):c.4131C>T (p.Thr1377=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132184	NM_004859.4(CLTC):c.4134G>C (p.Met1378Ile)	CLTC, LOC126862609 (M1378I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389511	NM_004859.4(CLTC):c.4138A>C (p.Asn1380His)	CLTC, LOC126862609 (N1380H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335286	NM_004859.4(CLTC):c.4139A>G (p.Asn1380Ser)	LOC126862609, CLTC (N1380S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968764	NM_004859.4(CLTC):c.4147A>G (p.Thr1383Ala)	CLTC, LOC126862609 (T1383A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118166	NM_004859.4(CLTC):c.4150G>C (p.Asp1384His)	CLTC, LOC126862609 (D1388H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007489	NM_004859.4(CLTC):c.4154C>G (p.Ala1385Gly)	CLTC, LOC126862609 (A1389G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543731	NM_004859.4(CLTC):c.4170A>G (p.Gln1390=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	CLTC-related condition +1 more	GLikely benign
Select item 2192938	NM_004859.4(CLTC):c.4181T>C (p.Ile1394Thr)	CLTC, LOC126862609 (I1394T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347037	NM_004859.4(CLTC):c.4190A>G (p.Lys1397Arg)	CLTC, LOC126862609 (K1401R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867454	NM_004859.4(CLTC):c.4191+12C>A	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545712	NM_004859.4(CLTC):c.4191+13T>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627477	NM_004859.4(CLTC):c.4191+17G>A	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958510	NM_004859.4(CLTC):c.4191+18A>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080017	NM_004859.4(CLTC):c.4192-19A>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996075	NM_004859.4(CLTC):c.4192-15A>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112944	NM_004859.4(CLTC):c.4192-4G>A	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1954628	NM_004859.4(CLTC):c.4194T>G (p.Val1398=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765984	NM_004859.4(CLTC):c.4206A>G (p.Glu1402=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023127	NM_004859.4(CLTC):c.4209A>G (p.Leu1403=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965786	NM_004859.4(CLTC):c.4210T>C (p.Tyr1404His)	CLTC, LOC126862609 (Y1404H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123905	NM_004859.4(CLTC):c.4226A>G (p.Gln1409Arg)	CLTC, LOC126862609 (Q1409R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714864	NM_004859.4(CLTC):c.4230C>T (p.Phe1410=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486534	NM_004859.4(CLTC):c.4236A>C (p.Leu1412Phe)	CLTC, LOC126862609 (L1412F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708668	NM_004859.4(CLTC):c.4239A>T (p.Glu1413Asp)	CLTC, LOC126862609 (E1417D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772410	NM_004859.4(CLTC):c.4245G>A (p.Lys1415=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417227	NM_004859.4(CLTC):c.4249C>G (p.Leu1417Val)	CLTC, LOC126862609 (L1417V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656326	NM_004859.4(CLTC):c.4269G>A (p.Leu1423=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663661	NM_004859.4(CLTC):c.4282C>T (p.Pro1428Ser)	CLTC, LOC126862609 (P1428S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866797	NM_004859.4(CLTC):c.4284A>T (p.Pro1428=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509230	NM_004859.4(CLTC):c.4285C>T (p.Arg1429Trp)	LOC126862609, CLTC (R1429W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1561024	NM_004859.4(CLTC):c.4288T>C (p.Leu1430=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1721129	NM_004859.4(CLTC):c.4292A>G (p.Asp1431Gly)	CLTC, LOC126862609 (D1431G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2002387	NM_004859.4(CLTC):c.4319G>A (p.Ser1440Asn)	CLTC, LOC126862609 (S1444N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466948	NM_004859.4(CLTC):c.4323+2_4323+3dup	CLTC, LOC126862609	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1365023	NM_004859.4(CLTC):c.4323+5A>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1535798	NM_004859.4(CLTC):c.4323+7T>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670130	NM_004859.4(CLTC):c.4323+12A>C	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671421	NM_004859.4(CLTC):c.4323+15T>A	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576549	NM_004859.4(CLTC):c.4323+20C>T	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805471	NM_004859.4(CLTC):c.4324-17A>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110543	NM_004859.4(CLTC):c.4324-17A>T	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915962	NM_004859.4(CLTC):c.4325T>C (p.Val1442Ala)	CLTC, LOC126862609 (V1446A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469645	NM_004859.4(CLTC):c.4331A>G (p.Gln1444Arg)	CLTC, LOC126862609 (Q1444R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779522	NM_004859.4(CLTC):c.4335A>G (p.Leu1445=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364806	NM_004859.4(CLTC):c.4336C>A (p.Pro1446Thr)	CLTC, LOC126862609 (P1446T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002732	NM_004859.4(CLTC):c.4344G>A (p.Val1448=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016405	NM_004859.4(CLTC):c.4356G>A (p.Leu1452=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755596	NM_004859.4(CLTC):c.4357C>T (p.Arg1453Cys)	CLTC, LOC126862609 (R1453C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087576	NM_004859.4(CLTC):c.4377C>T (p.Asn1459=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117120	NM_004859.4(CLTC):c.4385C>G (p.Ser1462Cys)	CLTC, LOC126862609 (S1466C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789853	NM_004859.4(CLTC):c.4418C>T (p.Thr1473Ile)	CLTC, LOC126862609 (T1473I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762548	NM_004859.4(CLTC):c.4419AGA[2] (p.Glu1475del)	CLTC, LOC126862609 (E1475del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2976974	NM_004859.4(CLTC):c.4434+6dup	CLTC, LOC126862609	Duplication (intron variant)	not provided	GLikely benign
Select item 1670563	NM_004859.4(CLTC):c.4434+7C>T	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545103	NM_004859.4(CLTC):c.4434+15T>C	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010659	NM_004859.4(CLTC):c.4434+19T>A	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 70