"Invitae"[submitter] AND "CERT1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 746640	NM_001379029.1(CERT1):c.1833T>C (p.Ser611=)	CERT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 766008	NM_001379029.1(CERT1):c.1800A>G (p.Arg600=)	CERT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 748827	NM_001379029.1(CERT1):c.1748-4G>A	CERT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728001	NM_001379029.1(CERT1):c.1743T>C (p.Ala581=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756393	NM_001379029.1(CERT1):c.1722A>G (p.Leu574=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728946	NM_001379029.1(CERT1):c.1707C>T (p.Ser569=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791531	NM_001379029.1(CERT1):c.1510C>A (p.Arg504=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724882	NM_001379029.1(CERT1):c.1489-6_1489-5insA	CERT1	Insertion (intron variant)	not provided	GLikely benign
Select item 724883	NM_001379029.1(CERT1):c.1489-6C>T	CERT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718279	NM_001379029.1(CERT1):c.1287A>G (p.Val429=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762415	NM_001379029.1(CERT1):c.1284+8C>T	CERT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726500	NM_001379029.1(CERT1):c.1227A>G (p.Leu409=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752177	NM_001379029.1(CERT1):c.1185C>T (p.Ser395=)	CERT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737608	NM_001379029.1(CERT1):c.1107A>G (p.Gln369=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741908	NM_001379029.1(CERT1):c.1104C>A (p.Val368=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 726192	NM_001379029.1(CERT1):c.936C>G (p.Gly312=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738145	NM_001379029.1(CERT1):c.931-7G>C	CERT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1025281	NM_001379029.1(CERT1):c.761G>A (p.Gly254Glu)	CERT1 (G254E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788983	NM_001379029.1(CERT1):c.735G>A (p.Ala245=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730217	NM_001379029.1(CERT1):c.596-8T>C	CERT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717877	NM_001379029.1(CERT1):c.473G>A (p.Arg158His)	CERT1 (R158H +1 more)	Single nucleotide variant (missense variant)	CERT1-related condition +1 more	GBenign/Likely benign
Select item 789475	NM_001379029.1(CERT1):c.450A>G (p.Ser150=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723583	NM_001379029.1(CERT1):c.408G>A (p.Leu136=)	CERT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304295	NM_001379029.1(CERT1):c.144A>C (p.Lys48Asn)	CERT1 (K176N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738403	NM_001379029.1(CERT1):c.84G>T (p.Gly28=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	CERT1-related condition +1 more	GLikely benign
Select item 728002	NM_001379029.1(CERT1):c.84G>C (p.Gly28=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791532	NM_001379029.1(CERT1):c.6G>A (p.Ser2=)	CERT1, POLK	Single nucleotide variant (synonymous variant)	CERT1-related condition +1 more	GLikely benign
Select item 732405	NM_001379029.1(CERT1):c.-80C>T	CERT1, POLK (P102L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 446020	NM_001379029.1(CERT1):c.-84G>A	CERT1, POLK (D101N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 716634	NM_001379029.1(CERT1):c.-168C>G	CERT1, POLK (R73G)	Single nucleotide variant (missense variant +1 more)	CERT1-related condition +1 more	GBenign
Select item 744616	NM_001379029.1(CERT1):c.-202C>T	CERT1, POLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2702621	NM_016218.3(POLK):c.-109G>C	CERT1, LOC129994075 +1 more (P9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749193	NM_001130105.1(CERT1):c.18C>T (p.Ile6=)	CERT1, LOC129994075 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2423200	NC_000005.9:g.(?_73980960)_(75008762_?)dup	GFM2, HEXB +9 more	Duplication	not provided	GUncertain significance

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Items: 34