C3806730[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 856581	NM_001008537.3(NEXMIF):c.4405C>T (p.Arg1469Ter)	NEXMIF (R1469*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435594	NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 684546	NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)	NEXMIF (R1423H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 953067	NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser)	NEXMIF (N1352S)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 625966	NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn)	NEXMIF (D1350N)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GConflicting classifications of pathogenicity
Select item 2434335	NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)	NEXMIF (M1335T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 474073	NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly)	NEXMIF (S1275G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1033189	NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)	NEXMIF (R1243H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 474071	NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)	NEXMIF (M1237L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 474070	NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)	NEXMIF (K1199fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 88753	NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs)	NEXMIF (S1200fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 653605	NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs)	NEXMIF (N1153fs)	Duplication (frameshift variant)	not specified +2 more	GPathogenic
Select item 1025929	NM_001008537.3(NEXMIF):c.3427G>C (p.Asp1143His)	NEXMIF (D1143H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 977347	NM_001008537.3(NEXMIF):c.3362G>A (p.Arg1121Gln)	NEXMIF (R1121Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 590102	NM_001008537.3(NEXMIF):c.3126G>C (p.Glu1042Asp)	NEXMIF (E1042D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 561042	NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)	NEXMIF (S963fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1033188	NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile)	NEXMIF (T929I)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GUncertain significance
Select item 1022444	NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys)	NEXMIF (E842K)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 574171	NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln)	NEXMIF (H836Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2028214	NM_001008537.3(NEXMIF):c.2457A>T (p.Leu819Phe)	NEXMIF (L819F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 759304	NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser)	NEXMIF (T804S)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GConflicting classifications of pathogenicity
Select item 579471	NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro)	NEXMIF (L788P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 541119	NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg)	NEXMIF (S747R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 474060	NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs)	NEXMIF (F722fs)	Indel (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 190220	NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	NEXMIF (R628*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type +2 more	GPathogenic
Select item 1053522	NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His)	NEXMIF (R626H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1350395	NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala)	NEXMIF (P605A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 541127	NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala)	NEXMIF (T597A)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 435602	NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)	NEXMIF (R533fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic
Select item 280509	NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)	NEXMIF (R481*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 646370	NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)	NEXMIF (S473P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1800360	NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)	NEXMIF (R461H)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GUncertain significance
Select item 658227	NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys)	NEXMIF (G427C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 280599	NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs)	NEXMIF (E375fs)	Deletion (frameshift variant)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic/Likely pathogenic
Select item 280835	NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)	NEXMIF (R348*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438478	NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter)	NEXMIF (R322*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 242327	NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter)	NEXMIF (R313*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic
Select item 981238	NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val)	NEXMIF (L303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047354	NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr)	NEXMIF (D229Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GConflicting classifications of pathogenicity
Select item 242323	NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter)	NEXMIF (R218*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type +2 more	GPathogenic
Select item 1030949	NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr)	NEXMIF (A156T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589350	NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp)	NEXMIF (G148D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1154321	NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu)	NEXMIF (I105L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 43