CN169374[trait identifier] AND "Claritas Genomics"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal semi-dominant severe lipodystrophic laminopathy +24 more	GConflicting classifications of pathogenicity
Select item 387835	NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)	NEB, RIF1 (P7301L +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 257765	NM_001164508.2(NEB):c.16637G>A (p.Arg5546His)	NEB (R5546H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 190215	NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	XPC, TMEM43 (Q939K +4 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GBenign/Likely benign
Select item 190214	NM_004628.5(XPC):c.2251-6A>C	XPC	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 190212	NM_004628.5(XPC):c.1881T>A (p.Ala627=)	XPC	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 135465	NM_004628.5(XPC):c.46C>G (p.Leu16Val)	LOC129936244, XPC (L16V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign
Select item 190177	NM_000082.4(ERCC8):c.435T>C (p.Tyr145=)	ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 190176	NM_000082.4(ERCC8):c.363T>C (p.Asp121=)	ERCC8-AS1, ERCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 190206	NM_000380.4(XPA):c.-4A>G	XPA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 129020	NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)	ERCC6 (Q1413R)	Single nucleotide variant (missense variant)	Cockayne syndrome +4 more	GBenign
Select item 190173	NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly)	ERCC6 (R1396G)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 1 +8 more	GUncertain significance
Select item 129018	NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)	ERCC6 (R1230P)	Single nucleotide variant (missense variant)	COFS syndrome +4 more	GBenign
Select item 129017	NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)	ERCC6 (R1213G)	Single nucleotide variant (missense variant)	COFS syndrome +4 more	GBenign/Likely benign
Select item 129016	NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)	ERCC6 (M1097V)	Single nucleotide variant (missense variant)	COFS syndrome +4 more	GBenign/Likely benign
Select item 1707	NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	ERCC6 (P1095R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 190165	NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=)	ERCC6	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 190164	NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)	ERCC6 (Q1041P)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 129015	NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)	ERCC6, LOC126860933	Single nucleotide variant (synonymous variant)	Cockayne syndrome +8 more	GBenign
Select item 190161	NM_000124.4(ERCC6):c.2418C>G (p.Cys806Trp)	ERCC6 (C806W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 190156	NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)	ERCC6 (R666C)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 190154	NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln)	ERCC6 (R612Q)	Single nucleotide variant (missense variant)	Cockayne syndrome type 2 +4 more	GUncertain significance
Select item 190153	NM_000124.4(ERCC6):c.1821+7C>T	ERCC6	Single nucleotide variant (intron variant)	COFS syndrome +8 more	GBenign
Select item 190151	NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn)	ERCC6 (K553N)	Single nucleotide variant (missense variant)	Age related macular degeneration 5 +9 more	GUncertain significance
Select item 129013	NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)	ERCC6, PGBD3 (G399D)	Single nucleotide variant (missense variant +1 more)	COFS syndrome +8 more	GBenign/Likely benign
Select item 190174	NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)	ERCC6 (L224F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 129019	NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	ERCC6	Single nucleotide variant (synonymous variant)	Cockayne syndrome +8 more	GBenign
Select item 190149	NM_000124.4(ERCC6):c.150G>A (p.Val50=)	ERCC6	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 129014	NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	ERCC6	Single nucleotide variant (synonymous variant)	COFS syndrome +8 more	GBenign
Select item 397621	NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)	LOC105369149, SBF2 +1 more (K1629del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 397627	NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	PCNT (C215Y +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +4 more	GConflicting classifications of pathogenicity
Select item 93775	NM_001110556.2(FLNA):c.7756+11=	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +4 more	GBenign
Select item 93772	NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 93766	NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +6 more	GBenign
Select item 93765	NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)	FLNA (A1764T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 190197	NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 93763	NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +5 more	GBenign
Select item 190196	NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)	FLNA	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 190194	NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)	FLNA (Q1484R)	Single nucleotide variant (missense variant)	Thrombocytopenia +8 more	GConflicting classifications of pathogenicity
Select item 129072	NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +12 more	GBenign/Likely benign
Select item 190188	NM_001110556.2(FLNA):c.3285C>A (p.Ala1095=)	FLNA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 93753	NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)	FLNA (S1012L)	Single nucleotide variant (missense variant)	not provided +13 more	GBenign/Likely benign
Select item 93750	NM_001110556.2(FLNA):c.1429+8C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +6 more	GConflicting classifications of pathogenicity
Select item 93748	NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)	FLNA (T429M)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +13 more	GBenign/Likely benign
Select item 129065	NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)	FLNA	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +13 more	GBenign/Likely benign
Select item 93771	NM_001110556.2(FLNA):c.663C>T (p.Pro221=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +6 more	GBenign

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Items: 46