"CABIN1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 737409	NM_012295.4(CABIN1):c.222C>T (p.Ser74=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GLikely benign
Select item 3042399	NM_012295.4(CABIN1):c.346-8G>A	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GLikely benign
Select item 1250878	NM_012295.4(CABIN1):c.673G>A (p.Asp225Asn)	CABIN1 (D225N)	Single nucleotide variant (missense variant +1 more)	CABIN1-related condition +1 more	GBenign
Select item 3049066	NM_012295.4(CABIN1):c.771G>A (p.Pro257=)	CABIN1	Single nucleotide variant (synonymous variant +1 more)	CABIN1-related condition	GLikely benign
Select item 735391	NM_012295.4(CABIN1):c.1182T>G (p.Ser394=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GLikely benign
Select item 3051043	NM_012295.4(CABIN1):c.1262+10A>T	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GLikely benign
Select item 773096	NM_012295.4(CABIN1):c.1262+10A>G	CABIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3035232	NM_012295.4(CABIN1):c.1443C>T (p.Asn481=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 722445	NM_012295.4(CABIN1):c.1486G>A (p.Gly496Ser)	CABIN1 (G446S +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GLikely benign
Select item 3040007	NM_012295.4(CABIN1):c.1809C>T (p.Arg603=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 1225482	NM_012295.4(CABIN1):c.1980A>C (p.Arg660Ser)	CABIN1 (R610S +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GBenign
Select item 1226945	NM_012295.4(CABIN1):c.2223T>G (p.Leu741=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign
Select item 3045498	NM_012295.4(CABIN1):c.2394C>T (p.Leu798=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 2652980	NM_012295.4(CABIN1):c.2446C>T (p.Leu816Phe)	CABIN1 (L766F +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GLikely benign
Select item 788751	NM_012295.4(CABIN1):c.2518C>G (p.Pro840Ala)	CABIN1 (P790A +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GLikely benign
Select item 733632	NM_012295.4(CABIN1):c.2532A>C (p.Ser844=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign/Likely benign
Select item 1175524	NM_012295.4(CABIN1):c.2558G>A (p.Arg853Gln)	CABIN1 (R803Q +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GBenign
Select item 788629	NM_012295.4(CABIN1):c.2620C>T (p.Pro874Ser)	CABIN1 (P824S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1234413	NM_012295.4(CABIN1):c.2688C>T (p.His896=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2652981	NM_012295.4(CABIN1):c.2749-3C>T	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition +1 more	GLikely benign
Select item 1258993	NM_012295.4(CABIN1):c.2761C>G (p.Gln921Glu)	CABIN1 (Q871E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3050395	NM_012295.4(CABIN1):c.3165C>G (p.Asn1055Lys)	CABIN1 (N1005K +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition	GBenign
Select item 715921	NM_012295.4(CABIN1):c.3318G>A (p.Lys1106=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign/Likely benign
Select item 1182869	NM_012295.4(CABIN1):c.3728G>A (p.Arg1243His)	CABIN1 (R1193H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3043632	NM_012295.4(CABIN1):c.3939-10G>A	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GLikely benign
Select item 3036518	NM_012295.4(CABIN1):c.4118-3C>T	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GLikely benign
Select item 3039561	NM_012295.4(CABIN1):c.4230G>C (p.Lys1410Asn)	CABIN1 (K1360N +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition	GLikely benign
Select item 769155	NM_012295.4(CABIN1):c.4247G>A (p.Ser1416Asn)	CABIN1 (S1416N +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GBenign
Select item 3040234	NM_012295.4(CABIN1):c.4542C>T (p.Ala1514=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 3053611	NM_012295.4(CABIN1):c.4633-10G>T	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GBenign
Select item 3029082	NM_012295.4(CABIN1):c.4633-3C>T	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GLikely benign
Select item 2652982	NM_012295.4(CABIN1):c.4710G>T (p.Gly1570=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GLikely benign
Select item 715922	NM_012295.4(CABIN1):c.4947G>A (p.Ala1649=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign/Likely benign
Select item 3034393	NM_012295.4(CABIN1):c.5064C>T (p.Thr1688=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 3044159	NM_012295.4(CABIN1):c.5217C>T (p.Asp1739=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 2209528	NM_012295.4(CABIN1):c.5341C>T (p.Pro1781Ser)	CABIN1 (P1731S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 770472	NM_012295.4(CABIN1):c.5472C>T (p.Pro1824=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GLikely benign
Select item 3039693	NM_012295.4(CABIN1):c.5658G>A (p.Ser1886=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 1277647	NM_012295.4(CABIN1):c.5745C>T (p.Ala1915=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3057091	NM_012295.4(CABIN1):c.5758-8C>G	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GLikely benign
Select item 788630	NM_012295.4(CABIN1):c.5968C>G (p.Gln1990Glu)	CABIN1 (Q1940E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3042954	NM_012295.4(CABIN1):c.5987C>T (p.Pro1996Leu)	CABIN1 (P1946L +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition	GBenign
Select item 3038503	NM_012295.4(CABIN1):c.6285C>T (p.Pro2095=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign
Select item 770473	NM_012295.4(CABIN1):c.6327C>T (p.Ala2109=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign
Select item 2652984	NM_012295.4(CABIN1):c.6495G>A (p.Ser2165=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign/Likely benign
Select item 3042405	NM_012295.4(CABIN1):c.6520-5C>T	CABIN1	Single nucleotide variant (intron variant)	CABIN1-related condition	GLikely benign
Select item 775449	NM_012295.4(CABIN1):c.6553G>A (p.Val2185Met)	CABIN1 (V2135M +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GLikely benign
Select item 3037768	NM_012295.4(CABIN1):c.6636C>G (p.Asp2212Glu)	CABIN1 (D2162E +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition	GLikely benign
Select item 3041104	NM_012295.4(CABIN1):c.6645C>T (p.Asp2215=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition	GLikely benign

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Items: 49