"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261821	NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly)	FRAS1 (D32G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 518357	NM_025074.7(FRAS1):c.108+2546T>C	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GBenign
Select item 518358	NM_025074.7(FRAS1):c.604-132G>A	FRAS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261808	NM_025074.7(FRAS1):c.604-8G>A	FRAS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261803	NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile)	FRAS1 (L466I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 903829	NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)	FRAS1 (R640C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 194790	NM_025074.7(FRAS1):c.1947T>C (p.His649=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 261804	NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly)	FRAS1 (D687G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 261805	NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val)	FRAS1 (A817V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 349702	NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu)	FRAS1 (G1023E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 349703	NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr)	FRAS1 (A1042T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 261806	NM_025074.7(FRAS1):c.3151+14_3151+15dup	FRAS1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 196041	NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=)	FRAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 196042	NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys)	FRAS1 (E1136K)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GBenign
Select item 1299273	NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile)	FRAS1 (T1445I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197083	NM_025074.7(FRAS1):c.5366+13T>G	FRAS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 703087	NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)	FRAS1 (A1792T)	Single nucleotide variant (missense variant)	FRAS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 197552	NM_025074.7(FRAS1):c.6468C>T (p.His2156=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 261811	NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=)	FRAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261813	NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu)	FRAS1 (K2378E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 349751	NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser)	FRAS1 (N2408S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 349752	NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 261814	NM_025074.7(FRAS1):c.7371+11T>C	FRAS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261815	NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 261817	NM_025074.7(FRAS1):c.9116-11T>C	FRAS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261818	NM_025074.7(FRAS1):c.9116-5C>G	FRAS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 198348	NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)	FRAS1 (R3269Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GBenign/Likely benign
Select item 349790	NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GBenign
Select item 1299269	NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn)	FRAS1 (D3411N)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 261798	NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile)	FRAS1 (V3566I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 261801	NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261802	NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Items: 32