Related gene-specific medical variations for Gene (Select 1111) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064152	NM_001114122.3(CHEK1):c.563C>G (p.Pro188Arg)	CHEK1 (P188R +2 more)	Single nucleotide variant (missense variant +1 more)	Oocyte/zygote/embryo maturation arrest 21	GUncertain significance
Select item 3060002	NM_001114122.3(CHEK1):c.-191T>C	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related condition	GBenign
Select item 3056356	NM_001114122.3(CHEK1):c.-188A>G	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related condition	GBenign
Select item 3055541	NM_001114122.3(CHEK1):c.-182C>G	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related condition	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 condition	GBenign
Select item 3050406	NM_001114122.3(CHEK1):c.-170C>T	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related condition	GLikely benign
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 condition	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 condition	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 condition	GLikely benign
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 condition	GUncertain significance
Select item 2633886	NM_001114122.3(CHEK1):c.-160C>T	CHEK1, LOC118567325	Single nucleotide variant (5 prime UTR variant +1 more)	CHEK1-related condition	GUncertain significance
Select item 2607272	NM_001612.6(ACRV1):c.76C>A (p.Leu26Ile)	ACRV1, CHEK1 (L26I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557071	NM_001612.6(ACRV1):c.611G>A (p.Arg204His)	ACRV1, CHEK1 (R149H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493441	NM_001612.6(ACRV1):c.794T>C (p.Ile265Thr)	ACRV1, CHEK1 (I210T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321970	NM_001612.6(ACRV1):c.370C>T (p.Leu124Phe)	CHEK1, ACRV1 (L69F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269339	NM_001612.6(ACRV1):c.229A>C (p.Lys77Gln)	CHEK1, ACRV1 (K77Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 161729	NM_001612.6(ACRV1):c.623C>T (p.Thr208Ile)	ACRV1, CHEK1 (T138I +3 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance