Related gene-specific medical variations for Gene (Select 121627952) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142008	NM_001378328.1(CELSR1):c.7525G>A (p.Val2509Met)	CELSR1, LOC121627952 (V2509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044193	NM_001378328.1(CELSR1):c.7584+9A>T	CELSR1, LOC121627952	Single nucleotide variant (intron variant)	CELSR1-related disorder	GBenign
Select item 2672160	NM_001378328.1(CELSR1):c.7492T>C (p.Ser2498Pro)	CELSR1, LOC121627952 (S2498P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2663667	NM_001378328.1(CELSR1):c.7409T>C (p.Ile2470Thr)	CELSR1, LOC121627952 (I2470T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653319	NM_001378328.1(CELSR1):c.7386C>T (p.Asn2462=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653318	NM_001378328.1(CELSR1):c.7422C>T (p.Ala2474=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	CELSR1-related disorder +1 more	GLikely benign
Select item 2653317	NM_001378328.1(CELSR1):c.7524C>T (p.Ala2508=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	CELSR1-related disorder +1 more	GBenign/Likely benign
Select item 2653316	NM_001378328.1(CELSR1):c.7530G>A (p.Ala2510=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575749	NM_001378328.1(CELSR1):c.7489C>T (p.Arg2497Cys)	CELSR1, LOC121627952 (R2497C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2297156	NM_001378328.1(CELSR1):c.7568A>G (p.Asn2523Ser)	CELSR1, LOC121627952 (N2523S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2281590	NM_001378328.1(CELSR1):c.7537C>T (p.Leu2513Phe)	CELSR1, LOC121627952 (L2513F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254317	NM_001378328.1(CELSR1):c.7555G>A (p.Val2519Met)	CELSR1, LOC121627952 (V2519M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788494	NM_001378328.1(CELSR1):c.7554C>T (p.Phe2518=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786700	NM_001378328.1(CELSR1):c.7554C>A (p.Phe2518Leu)	CELSR1, LOC121627952 (F2518L)	Single nucleotide variant (missense variant)	Lymphatic malformation 9 +2 more	GBenign/Likely benign
Select item 777755	NM_001378328.1(CELSR1):c.7395C>A (p.Val2465=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	CELSR1-related disorder +1 more	GBenign/Likely benign