C3150127[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 898767	NM_015910.7(WDPCP):c.*634A>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336750	NM_015910.7(WDPCP):c.*582C>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 895793	NM_015910.7(WDPCP):c.*559G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336751	NM_015910.7(WDPCP):c.*541C>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336752	NM_015910.7(WDPCP):c.*446C>T	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 895794	NM_015910.7(WDPCP):c.*327G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GLikely benign
Select item 336753	NM_015910.7(WDPCP):c.*323A>G	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GBenign
Select item 336754	NM_015910.7(WDPCP):c.*195G>A	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GBenign
Select item 336756	NM_015910.7(WDPCP):c.*104A>C	WDPCP	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 895795	NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg)	WDPCP (K739R +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336757	NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser)	WDPCP (G727S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +3 more	GUncertain significance
Select item 336758	NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 336759	NM_015910.7(WDPCP):c.2159-13T>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 896080	NM_015910.7(WDPCP):c.2158+14A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336760	NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr)	WDPCP (D705Y +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +3 more	GConflicting classifications of pathogenicity
Select item 220870	NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)	WDPCP (N688S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 336761	NM_015910.7(WDPCP):c.1945A>G (p.Met649Val)	WDPCP (M649V +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 336762	NM_015910.7(WDPCP):c.1923G>A (p.Leu641=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 260680	NM_015910.7(WDPCP):c.1916-6C>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15 +2 more	GBenign
Select item 95744	NM_015910.7(WDPCP):c.1915+13G>A	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 15 +5 more	GBenign
Select item 897668	NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile)	WDPCP (S627I +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 260679	NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 897669	NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)	WDPCP (F418L +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 336763	NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu)	WDPCP (Q569L +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 897670	NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys)	WDPCP (Q510K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898834	NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)	WDPCP (A367T +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +3 more	GUncertain significance
Select item 701228	NM_015910.7(WDPCP):c.1575C>T (p.Ser525=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 522195	NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)	WDPCP (R483Q +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 193723	NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)	WDPCP (A445P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 336764	NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr)	WDPCP (M441T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 188367	NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)	WDPCP (V439I +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 336765	NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile)	WDPCP (S437I +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 336766	NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)	WDPCP (E365G +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +4 more	GUncertain significance
Select item 895870	NM_015910.7(WDPCP):c.1080G>A (p.Ser360=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 336767	NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)	WDPCP (S360L +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 700056	NM_015910.7(WDPCP):c.990A>G (p.Ser330=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	WDPCP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 215893	NM_015910.7(WDPCP):c.985G>A (p.Val329Met)	WDPCP (V329M +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 696101	NM_015910.7(WDPCP):c.924A>G (p.Val308=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	WDPCP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 577208	NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser)	WDPCP (T293S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +3 more	GUncertain significance
Select item 695798	NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys)	WDPCP (R290C +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 260683	NM_015910.7(WDPCP):c.802G>A (p.Gly268Ser)	WDPCP (G268S +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15 +2 more	GBenign
Select item 896142	NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)	WDPCP (I221V +2 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 631864	NM_015910.7(WDPCP):c.630_631dup (p.Lys211fs)	WDPCP (K187fs +2 more)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 896143	NM_015910.7(WDPCP):c.499+9C>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 896144	NM_015910.7(WDPCP):c.486C>T (p.Asp162=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +1 more	GUncertain significance
Select item 896145	NM_015910.7(WDPCP):c.255A>G (p.Ser85=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	WDPCP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 336768	NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu)	WDPCP (S85L +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 695203	NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg)	WDPCP (G74R +1 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 631865	NM_015910.7(WDPCP):c.209-1G>A	WDPCP	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 336769	NM_015910.7(WDPCP):c.208+11T>C	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 220911	NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)	WDPCP (I59N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 162669	NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	WDPCP (D54N +1 more)	Single nucleotide variant (missense variant +1 more)	WDPCP-related condition +3 more	GUncertain significance
Select item 531833	NM_015910.7(WDPCP):c.159G>A (p.Ala53=)	WDPCP	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 15 +3 more	GConflicting classifications of pathogenicity
Select item 897745	NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp)	WDPCP (N24D +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336770	NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)	WDPCP (D28V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 260682	NM_015910.7(WDPCP):c.76-15T>A	WDPCP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 336771	NM_015910.7(WDPCP):c.75+13C>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 193388	NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)	WDPCP (P23Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 897746	NM_015910.7(WDPCP):c.-96G>T	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336773	NM_015910.7(WDPCP):c.-109G>C	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336774	NM_015910.7(WDPCP):c.-113C>A	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GLikely benign
Select item 898897	NM_015910.7(WDPCP):c.-176G>C	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GUncertain significance
Select item 336775	NM_015910.7(WDPCP):c.-188G>C	WDPCP	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 15	GLikely benign

ClinVar

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Items: 63