C0010495[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 314859	NM_006329.4(FBLN5):c.*775A>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314860	NM_006329.4(FBLN5):c.*653G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314861	NM_006329.4(FBLN5):c.*648G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 314862	NM_006329.4(FBLN5):c.*647C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 314863	NM_006329.4(FBLN5):c.*623A>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +2 more	GBenign
Select item 314864	NM_006329.4(FBLN5):c.*514A>G	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +2 more	GBenign/Likely benign
Select item 314865	NM_006329.4(FBLN5):c.*458T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 887134	NM_006329.4(FBLN5):c.*426C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314866	NM_006329.4(FBLN5):c.*423T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 888397	NM_006329.4(FBLN5):c.*419G>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314867	NM_006329.4(FBLN5):c.*363C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314868	NM_006329.4(FBLN5):c.*329T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 314869	NM_006329.4(FBLN5):c.*326G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 885288	NM_006329.4(FBLN5):c.*121C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314870	NM_006329.4(FBLN5):c.*98G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 885289	NM_006329.4(FBLN5):c.*77T>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 885290	NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)	FBLN5 (R414Q +3 more)	Single nucleotide variant (missense variant +1 more)	Macular degeneration, age-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 314871	NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)	FBLN5 (R401Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 314872	NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GBenign
Select item 314873	NM_006329.4(FBLN5):c.1113G>A (p.Thr371=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GBenign/Likely benign
Select item 886192	NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu)	FBLN5 (V355L +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 5481	NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	FBLN5 (R351W +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +6 more	GUncertain significance
Select item 163455	NM_006329.4(FBLN5):c.989+13G>A	FBLN5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 314874	NM_006329.4(FBLN5):c.989+9C>T	FBLN5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163450	NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +5 more	GBenign
Select item 888450	NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)	FBLN5 (L301M +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +2 more	GUncertain significance
Select item 163456	NM_006329.4(FBLN5):c.863-13C>T	FBLN5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 314875	NM_006329.4(FBLN5):c.862+12C>T	FBLN5	Single nucleotide variant (intron variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 884224	NM_006329.4(FBLN5):c.726C>G (p.Gly242=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +1 more	GUncertain significance
Select item 314876	NM_006329.4(FBLN5):c.714T>A (p.Leu238=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GBenign/Likely benign
Select item 314877	NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)	FBLN5 (G226S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287193	NM_006329.4(FBLN5):c.621T>C (p.Asp207=)	FBLN5	Single nucleotide variant (synonymous variant)	Macular degeneration, age-related, 3 +3 more	GConflicting classifications of pathogenicity
Select item 226639	NM_006329.4(FBLN5):c.620-8T>C	FBLN5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 21453	NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	FBLN5 (G202R +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 886256	NM_006329.4(FBLN5):c.573A>G (p.Thr191=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 314878	NM_006329.4(FBLN5):c.502+15G>C	FBLN5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 314879	NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys)	FBLN5 (E130K +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 218360	NM_006329.4(FBLN5):c.376G>A (p.Val126Met)	FBLN5 (V126M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 887257	NM_006329.4(FBLN5):c.336A>G (p.Ile112Met)	FBLN5 (I112M +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 887258	NM_006329.4(FBLN5):c.273G>A (p.Pro91=)	FBLN5	Single nucleotide variant (synonymous variant)	Cutis laxa +3 more	GConflicting classifications of pathogenicity
Select item 218359	NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	FBLN5 (G90S +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 314880	NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys)	FBLN5 (Y84C +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +1 more	GUncertain significance
Select item 888518	NM_006329.4(FBLN5):c.124+8C>A	FBLN5	Single nucleotide variant (intron variant)	Cutis laxa +1 more	GUncertain significance
Select item 314883	NM_006329.4(FBLN5):c.-57G>A	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 884297	NM_006329.4(FBLN5):c.-77C>G	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314884	NM_006329.4(FBLN5):c.-139C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314885	NM_006329.4(FBLN5):c.-152C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 314886	NM_006329.4(FBLN5):c.-382C>G	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314887	NM_006329.4(FBLN5):c.-389C>A	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314888	NM_006329.4(FBLN5):c.-411A>G	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 314889	NM_006329.4(FBLN5):c.-413C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314890	NM_006329.4(FBLN5):c.-414C>T	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +2 more	GBenign
Select item 314891	NM_006329.4(FBLN5):c.-428G>C	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314893	NM_006329.4(FBLN5):c.-458G>A	FBLN5	Single nucleotide variant (5 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 325891	NM_006907.4(PYCR1):c.*769C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325893	NM_006907.4(PYCR1):c.*699G>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325894	NM_006907.4(PYCR1):c.*622G>A	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325895	NM_006907.4(PYCR1):c.*504G>C	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325896	NM_006907.4(PYCR1):c.*482G>A	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 325897	NM_006907.4(PYCR1):c.*477C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 890670	NM_006907.4(PYCR1):c.*440C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 891915	NM_006907.4(PYCR1):c.*352C>G	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa	GUncertain significance
Select item 808335	NM_006907.4(PYCR1):c.*307G>T	PYCR1 (Q308H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa +1 more	GUncertain significance
Select item 325898	NM_006907.4(PYCR1):c.*272G>A	PYCR1 (G297R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa +1 more	GBenign
Select item 891916	NM_006907.4(PYCR1):c.*245T>C	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 891917	NM_006907.4(PYCR1):c.*229C>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 891918	NM_006907.4(PYCR1):c.*195A>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 891919	NM_006907.4(PYCR1):c.*150C>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 891920	NM_006907.4(PYCR1):c.*104G>A	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 325900	NM_006907.4(PYCR1):c.*68C>T	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GBenign
Select item 325901	NM_006907.4(PYCR1):c.*62G>C	PYCR1	Single nucleotide variant (3 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 889467	NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu)	PYCR1 (S301L +2 more)	Single nucleotide variant (missense variant +2 more)	Cutis laxa	GUncertain significance
Select item 325902	NM_006907.4(PYCR1):c.894C>T (p.Thr298=)	PYCR1	Single nucleotide variant (synonymous variant +2 more)	Cutis laxa +2 more	GBenign
Select item 889468	NM_006907.4(PYCR1):c.798-4C>T	PYCR1	Single nucleotide variant (intron variant)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 13190	NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)	PYCR1 (R266Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 325903	NM_006907.4(PYCR1):c.768C>T (p.Asn256=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 889469	NM_006907.4(PYCR1):c.717C>T (p.Ile239=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 325904	NM_006907.4(PYCR1):c.633+1G>C	PYCR1	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 678602	NM_006907.4(PYCR1):c.615C>T (p.Leu205=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325906	NM_006907.4(PYCR1):c.576T>C (p.Gly192=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 325907	NM_006907.4(PYCR1):c.540+11C>T	PYCR1	Single nucleotide variant (intron variant)	Cutis laxa +1 more	GBenign
Select item 890150	NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)	PYCR1 (V197I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 890151	NM_006907.4(PYCR1):c.431A>G (p.Glu144Gly)	PYCR1 (E144G +1 more)	Single nucleotide variant (missense variant)	Cutis laxa	GUncertain significance
Select item 890152	NM_006907.4(PYCR1):c.409A>G (p.Thr137Ala)	PYCR1 (T164A +1 more)	Single nucleotide variant (missense variant)	Cutis laxa	GUncertain significance
Select item 325908	NM_006907.4(PYCR1):c.399C>T (p.Thr133=)	PYCR1	Single nucleotide variant (synonymous variant)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 325909	NM_006907.4(PYCR1):c.348G>A (p.Arg116=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 282265	NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)	PYCR1 (R112W +1 more)	Single nucleotide variant (missense variant)	Cutis laxa +3 more	GConflicting classifications of pathogenicity
Select item 813586	NM_006907.4(PYCR1):c.329C>T (p.Ala110Val)	PYCR1 (A137V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 325910	NM_006907.4(PYCR1):c.285C>T (p.Cys95=)	PYCR1	Single nucleotide variant (synonymous variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 325911	NM_006907.4(PYCR1):c.261G>A (p.Glu87=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325912	NM_006907.4(PYCR1):c.180G>A (p.Val60=)	PYCR1	Single nucleotide variant (synonymous variant)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 325913	NM_006907.4(PYCR1):c.176C>T (p.Thr59Met)	PYCR1 (T59M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325914	NM_006907.4(PYCR1):c.164A>T (p.His55Leu)	PYCR1 (H55L +1 more)	Single nucleotide variant (missense variant)	Cutis laxa	GUncertain significance
Select item 325917	NM_006907.4(PYCR1):c.110T>G (p.Met37Arg)	PYCR1 (M37R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 325920	NM_006907.4(PYCR1):c.-48G>C	PYCR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 325921	NM_006907.4(PYCR1):c.-62G>A	PYCR1	Single nucleotide variant (5 prime UTR variant +1 more)	Cutis laxa +1 more	GBenign/Likely benign
Select item 325922	NM_006907.4(PYCR1):c.-77G>A	PYCR1	Single nucleotide variant (5 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 325923	NM_006907.4(PYCR1):c.-196G>A	PYCR1	Single nucleotide variant (5 prime UTR variant +1 more)	Cutis laxa	GUncertain significance
Select item 325924	NM_006907.4(PYCR1):c.-250C>T	LOC130061991, PYCR1	Single nucleotide variant (5 prime UTR variant +1 more)	Cutis laxa	GUncertain significance

ClinVar

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Germline classification

Types of conflicts

Molecular consequence

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Variant length

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Items: 99