C4540040[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 881653	NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg)	GRIP1 (Q1044R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 881655	NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg)	GRIP1 (G1049R +4 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +1 more	GUncertain significance
Select item 289294	NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser)	GRIP1 (T1007S +4 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +1 more	GUncertain significance
Select item 724012	NM_001366722.1(GRIP1):c.2886G>A (p.Pro962=)	GRIP1	Single nucleotide variant (synonymous variant)	Fraser syndrome 3 +1 more	GLikely benign
Select item 310299	NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu)	GRIP1 (P910L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 710021	NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=)	GRIP1	Single nucleotide variant (synonymous variant)	GRIP1-related disorder +2 more	GBenign/Likely benign
Select item 806910	NM_001366722.1(GRIP1):c.2792C>T (p.Ser931Leu)	GRIP1 (S864L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 310302	NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln)	GRIP1 (R801Q +3 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 883598	NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=)	GRIP1	Single nucleotide variant (synonymous variant)	Fraser syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 310304	NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=)	GRIP1	Single nucleotide variant (synonymous variant)	Fraser syndrome 3 +2 more	GBenign/Likely benign
Select item 310305	NM_001366722.1(GRIP1):c.1801G>A (p.Val601Ile)	GRIP1 (V549I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 714266	NM_001366722.1(GRIP1):c.1791A>G (p.Gly597=)	GRIP1	Single nucleotide variant (synonymous variant)	GRIP1-related disorder +2 more	GLikely benign
Select item 1696374	NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn)	GRIP1 (K543N +5 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +2 more	GUncertain significance
Select item 310308	NM_001366722.1(GRIP1):c.1444G>A (p.Gly482Arg)	GRIP1 (G430R +3 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 881700	NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met)	GRIP1 (L435M +3 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 497434	NM_001366722.1(GRIP1):c.1199-7C>G	GRIP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 493119	NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp)	GRIP1 (R339W +1 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +1 more	GUncertain significance
Select item 310311	NM_001366722.1(GRIP1):c.872+7A>G	GRIP1	Single nucleotide variant (intron variant)	Fraser syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 198899	NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg)	GRIP1 (C273R +1 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +2 more	GUncertain significance
Select item 787100	NM_001366722.1(GRIP1):c.579-8C>T	GRIP1	Single nucleotide variant (intron variant)	Fraser syndrome 3 +1 more	GLikely benign
Select item 883642	NM_001366722.1(GRIP1):c.418+14C>A	GRIP1	Single nucleotide variant (intron variant)	Fraser syndrome 3 +1 more	GBenign/Likely benign
Select item 499357	NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr)	GRIP1 (I72T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 718093	NM_001366722.1(GRIP1):c.162C>T (p.Val54=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 716991	NM_001366722.1(GRIP1):c.55+9C>A	GRIP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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Items: 24