"CHEK1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033465	NM_001114122.3(CHEK1):c.-266T>A	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3044253	NM_001114122.3(CHEK1):c.-253A>T	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3052481	NM_001114122.3(CHEK1):c.-209G>A	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3043887	NM_001114122.3(CHEK1):c.-196A>G	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3041131	NM_001114122.3(CHEK1):c.-195C>T	CHEK1, LOC118567325 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 3060002	NM_001114122.3(CHEK1):c.-191T>C	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3056356	NM_001114122.3(CHEK1):c.-188A>G	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3055541	NM_001114122.3(CHEK1):c.-182C>G	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GBenign
Select item 3050406	NM_001114122.3(CHEK1):c.-170C>T	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 2633886	NM_001114122.3(CHEK1):c.-160C>T	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3035928	NM_001114122.3(CHEK1):c.-114G>T	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 3054794	NM_001114122.3(CHEK1):c.-89A>T	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 2628437	NM_001114122.3(CHEK1):c.-83T>C	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3035097	NM_001114122.3(CHEK1):c.-37G>A	CHEK1	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 2634160	NM_001114122.3(CHEK1):c.467G>A (p.Arg156Gln)	CHEK1 (R156Q +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 2637335	NM_001114122.3(CHEK1):c.586A>C (p.Ile196Leu)	CHEK1 (I102L +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 3036321	NM_001114122.3(CHEK1):c.614-8G>A	CHEK1	Single nucleotide variant (intron variant)	CHEK1-related disorder	GLikely benign
Select item 3059197	NM_001114122.3(CHEK1):c.676dup (p.Thr226fs)	CHEK1 (T125fs +2 more)	Duplication (frameshift variant +1 more)	CHEK1-related disorder	GLikely benign
Select item 3054384	NM_001114122.3(CHEK1):c.814+7del	CHEK1	Deletion (intron variant)	CHEK1-related disorder	GLikely benign
Select item 2634331	NM_001114122.3(CHEK1):c.830G>A (p.Arg277Gln)	CHEK1 (R176Q +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder +1 more	GUncertain significance
Select item 745869	NM_001114122.3(CHEK1):c.1102-9G>A	CHEK1	Single nucleotide variant (intron variant)	CHEK1-related disorder +1 more	GBenign
Select item 2628966	NM_001114122.3(CHEK1):c.1114C>T (p.Arg372Trp)	CHEK1 (R271W +2 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder	GUncertain significance
Select item 496138	NM_001114122.3(CHEK1):c.1260A>G (p.Arg420=)	CHEK1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 496139	NM_001114122.3(CHEK1):c.1411A>G (p.Ile471Val)	CHEK1 (I471V +3 more)	Single nucleotide variant (missense variant +1 more)	CHEK1-related disorder +1 more	GBenign
Select item 3032654	NM_001114122.3(CHEK1):c.*10C>T	CHEK1	Single nucleotide variant (3 prime UTR variant +1 more)	CHEK1-related disorder	GLikely benign

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Items: 25