"CLASP2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037568	NM_001365631.1(CLASP2):c.4383G>A (p.Ala1461=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GBenign
Select item 3047500	NM_001365631.1(CLASP2):c.4326T>C (p.Asp1442=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3041004	NM_001365631.1(CLASP2):c.3881A>G (p.Tyr1294Cys)	CLASP2 (Y1046C +44 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 3050390	NM_001365631.1(CLASP2):c.3786C>T (p.Asp1262=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3034083	NM_001365631.1(CLASP2):c.3576G>A (p.Gly1192=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3040123	NM_001365631.1(CLASP2):c.3381A>G (p.Thr1127=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3056625	NM_001365631.1(CLASP2):c.3320C>T (p.Thr1107Ile)	CLASP2 (T1092I +44 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 3039103	NM_001365631.1(CLASP2):c.2616T>C (p.Asn872=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3039137	NM_001365631.1(CLASP2):c.2455-1147C>G	CLASP2	Single nucleotide variant (intron variant)	CLASP2-related disorder	GBenign
Select item 3029599	NM_001365631.1(CLASP2):c.2240-4C>G	CLASP2	Single nucleotide variant (intron variant)	CLASP2-related disorder	GUncertain significance
Select item 770138	NM_001365631.1(CLASP2):c.1949-9C>T	CLASP2	Single nucleotide variant (intron variant)	CLASP2-related disorder +1 more	GBenign
Select item 3041763	NM_001365631.1(CLASP2):c.1871G>A (p.Arg624Gln)	CLASP2 (R391Q +6 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 747255	NM_001365631.1(CLASP2):c.1800T>C (p.Arg600=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder +1 more	GBenign/Likely benign
Select item 3040674	NM_001365631.1(CLASP2):c.1527-6dup	CLASP2	Duplication (intron variant)	CLASP2-related disorder	GLikely benign
Select item 3050689	NM_001365631.1(CLASP2):c.1341A>T (p.Ile447=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3051071	NM_001365631.1(CLASP2):c.690C>T (p.Gly230=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GLikely benign
Select item 3037912	NM_001365631.1(CLASP2):c.510A>G (p.Pro170=)	CLASP2	Single nucleotide variant (synonymous variant)	CLASP2-related disorder	GBenign
Select item 3056537	NM_001365631.1(CLASP2):c.488T>C (p.Leu163Pro)	CLASP2 (L163P +1 more)	Single nucleotide variant (missense variant)	CLASP2-related disorder	GBenign
Select item 717181	NM_001365631.1(CLASP2):c.275-10C>T	CLASP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3042518	NM_001365631.1(CLASP2):c.6G>A (p.Glu2=)	CLASP2, LOC129936446	Single nucleotide variant (synonymous variant +1 more)	CLASP2-related disorder	GLikely benign
Select item 3038051	NM_001365631.1(CLASP2):c.-20GCGG[4]	CLASP2, LOC129936446	Microsatellite (5 prime UTR variant)	CLASP2-related disorder	GLikely benign

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Items: 21