"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1243 - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2102872	NM_006914.4(RORB):c.1265dup (p.Leu422fs)	LOC124310566, RORB (L422fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1359541	NM_006914.4(RORB):c.1270G>A (p.Gly424Arg)	LOC124310566, RORB (G435R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787689	NM_006914.4(RORB):c.1279C>T (p.Leu427=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996363	NM_006914.4(RORB):c.1284G>A (p.Gln428=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876810	NM_006914.4(RORB):c.1284G>C (p.Gln428His)	LOC124310566, RORB (Q439H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879559	NM_006914.4(RORB):c.1287A>G (p.Val429=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517274	NM_006914.4(RORB):c.1292del (p.Lys431fs)	LOC124310566, RORB (K431fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1380412	NM_006914.4(RORB):c.1294C>A (p.Gln432Lys)	LOC124310566, RORB (Q432K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995833	NM_006914.4(RORB):c.1297T>A (p.Ser433Thr)	LOC124310566, RORB (S444T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127319	NM_006914.4(RORB):c.1301A>T (p.His434Leu)	LOC124310566, RORB (H434L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022571	NM_006914.4(RORB):c.1309A>G (p.Ile437Val)	RORB, LOC124310566 (I448V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406897	NM_006914.4(RORB):c.1312G>A (p.Val438Met)	LOC124310566, RORB (V438M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449120	NM_006914.4(RORB):c.1316A>G (p.Asn439Ser)	LOC124310566, RORB (N439S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404933	NM_006914.4(RORB):c.1319C>T (p.Thr440Ile)	LOC124310566, RORB (T451I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570613	NM_006914.4(RORB):c.1320A>C (p.Thr440=)	RORB, LOC124310566	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2705500	NM_006914.4(RORB):c.1327C>T (p.Pro443Ser)	LOC124310566, RORB (P443S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548290	NM_006914.4(RORB):c.1332G>A (p.Pro444=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986852	NM_006914.4(RORB):c.1333T>C (p.Leu445=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461263	NM_006914.4(RORB):c.1343A>G (p.Glu448Gly)	LOC124310566, RORB (E459G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919604	NM_006914.4(RORB):c.1368C>T (p.Thr456=)	LOC124310566, RORB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420668	NM_006914.4(RORB):c.1369G>A (p.Gly457Ser)	LOC124310566, RORB (G457S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 21