"CTTNBP2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709431	NM_033427.3(CTTNBP2):c.4855A>C (p.Lys1619Gln)	CTTNBP2 (K1619Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2657962	NM_033427.3(CTTNBP2):c.4757C>T (p.Pro1586Leu)	CTTNBP2 (P1568L +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder +1 more	GBenign
Select item 2629453	NM_033427.3(CTTNBP2):c.4530_4533dup (p.Leu1512fs)	CTTNBP2 (L1494fs +2 more)	Duplication (frameshift variant)	CTTNBP2-related disorder	GUncertain significance
Select item 3046391	NM_033427.3(CTTNBP2):c.4448-7_4448-6dup	CTTNBP2	Duplication (intron variant)	CTTNBP2-related disorder	GLikely benign
Select item 3057560	NM_033427.3(CTTNBP2):c.4221A>G (p.Leu1407=)	CTTNBP2	Single nucleotide variant (synonymous variant)	CTTNBP2-related disorder	GLikely benign
Select item 2630369	NM_033427.3(CTTNBP2):c.4108A>G (p.Ile1370Val)	CTTNBP2 (I1352V +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 2634578	NM_033427.3(CTTNBP2):c.4007A>G (p.Tyr1336Cys)	CTTNBP2 (Y1318C +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 3060209	NM_033427.3(CTTNBP2):c.3637T>G (p.Leu1213Val)	CTTNBP2 (L1195V +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GBenign
Select item 3038886	NM_033427.3(CTTNBP2):c.3579C>A (p.Ile1193=)	CTTNBP2	Single nucleotide variant (synonymous variant)	CTTNBP2-related disorder	GBenign
Select item 3039294	NM_033427.3(CTTNBP2):c.3442C>A (p.Gln1148Lys)	CTTNBP2 (Q1130K +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GBenign
Select item 3048885	NM_033427.3(CTTNBP2):c.3293G>T (p.Ser1098Ile)	CTTNBP2 (S1080I +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GLikely benign
Select item 3038528	NM_033427.3(CTTNBP2):c.2778+6T>C	CTTNBP2	Single nucleotide variant (intron variant)	CTTNBP2-related disorder	GBenign
Select item 2635186	NM_033427.3(CTTNBP2):c.2768A>G (p.Lys923Arg)	CTTNBP2 (K224R +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 3046569	NM_033427.3(CTTNBP2):c.2760T>C (p.Ala920=)	CTTNBP2	Single nucleotide variant (synonymous variant)	CTTNBP2-related disorder	GLikely benign
Select item 2628892	NM_033427.3(CTTNBP2):c.2732G>A (p.Arg911Lys)	CTTNBP2 (R212K +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 3045019	NM_033427.3(CTTNBP2):c.2026T>C (p.Cys676Arg)	CTTNBP2 (C658R +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 3039389	NM_033427.3(CTTNBP2):c.1942C>G (p.Gln648Glu)	CTTNBP2 (Q630E +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 2636968	NM_033427.3(CTTNBP2):c.1894G>C (p.Ala632Pro)	CTTNBP2 (A614P +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 3035497	NM_033427.3(CTTNBP2):c.1779A>G (p.Gln593=)	CTTNBP2	Single nucleotide variant (synonymous variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 2630093	NM_033427.3(CTTNBP2):c.1625C>T (p.Pro542Leu)	CTTNBP2 (P524L +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 3061729	NM_033427.3(CTTNBP2):c.1307C>T (p.Ser436Phe)	CTTNBP2 (S418F +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 3054016	NM_033427.3(CTTNBP2):c.866G>A (p.Arg289His)	CTTNBP2 (R271H +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 3055612	NM_033427.3(CTTNBP2):c.414+9G>A	CTTNBP2	Single nucleotide variant (intron variant)	CTTNBP2-related disorder	GBenign
Select item 3052011	NM_033427.3(CTTNBP2):c.379G>A (p.Ala127Thr)	CTTNBP2 (A109T +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 3040182	NM_033427.3(CTTNBP2):c.222G>A (p.Arg74=)	CTTNBP2	Single nucleotide variant (synonymous variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 3048465	NM_033427.3(CTTNBP2):c.186G>A (p.Leu62=)	CTTNBP2	Single nucleotide variant (synonymous variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 726352	NM_033427.3(CTTNBP2):c.183C>T (p.Ala61=)	CTTNBP2	Single nucleotide variant (synonymous variant +1 more)	CTTNBP2-related disorder +1 more	GBenign
Select item 3032892	NM_033427.3(CTTNBP2):c.148G>A (p.Gly50Arg)	CTTNBP2 (G32R +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 3031330	NM_033427.3(CTTNBP2):c.45C>G (p.Ala15=)	CTTNBP2	Single nucleotide variant (5 prime UTR variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 3039175	NM_033427.3(CTTNBP2):c.25G>A (p.Glu9Lys)	CTTNBP2 (E9K)	Single nucleotide variant (5 prime UTR variant +1 more)	CTTNBP2-related disorder	GBenign

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Items: 30