C0268344[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320846	NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)	ZNF469 (R21H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 423800	NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)	ZNF469 (G179A)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 452044	NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)	ZNF469 (N195K)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 1304736	NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)	ZNF469 (E226K)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1212320	NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)	ZNF469 (G249R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 379787	NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)	ZNF469 (P251T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1385261	NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3])	ZNF469	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 320858	NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)	ZNF469 (A290V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1444075	NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)	ZNF469 (P314L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 429651	NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)	ZNF469 (P495S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 453138	NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)	ZNF469 (S619I)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 320874	NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)	ZNF469 (P628T)	Single nucleotide variant (missense variant)	ZNF469-related condition +3 more	GUncertain significance
Select item 320890	NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)	ZNF469 (P898L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 426116	NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val)	ZNF469 (A1151V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 511525	NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +1 more	GBenign/Likely benign
Select item 1348291	NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr)	ZNF469 (A1483T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 284987	NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)	ZNF469 (R1610H)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1575167	NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 195119	NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)	ZNF469 (Q1651R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1362386	NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg)	ZNF469 (W1658R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 126943	NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)	ZNF469 (R1715K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 684503	NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)	ZNF469 (P1927S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 373813	NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)	ZNF469 (G1972R)	Single nucleotide variant (missense variant)	ZNF469-related condition +5 more	GConflicting classifications of pathogenicity
Select item 320970	NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)	ZNF469 (S2422Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1315368	NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)	ZNF469 (P2438A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1653318	NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +1 more	GLikely benign
Select item 508242	NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 195124	NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GBenign/Likely benign
Select item 1198359	NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)	ZNF469 (G2820S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 452045	NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)	ZNF469 (G2867S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GUncertain significance
Select item 1261653	NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)	ZNF469 (H2876R)	Indel (missense variant)	Brittle cornea syndrome 1 +2 more	GBenign/Likely benign
Select item 429662	NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)	ZNF469 (T2902M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 419986	NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)	ZNF469 (D2930Y)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 373540	NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)	ZNF469 (R3027C)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 126933	NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)	ZNF469 (T3044M)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GUncertain significance
Select item 452230	NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)	ZNF469 (R3106W)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 1370950	NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)	ZNF469 (P3107L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 424173	NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His)	ZNF469 (R3123H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 126935	NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)	ZNF469 (T3307A)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 378872	NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)	ZNF469 (R3442T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 321014	NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)	ZNF469 (G3444R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 374522	NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)	ZNF469 (R3454Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 451353	NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)	ZNF469 (G3588R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1684149	NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)	ZNF469 (P3602L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 421677	NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys)	ZNF469 (R3630C)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 872523	NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)	ZNF469 (R3773Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 808137	NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)	ZNF469 (R3849W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity

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Items: 47