"Ambry Genetics"[submitter] AND "LOC126863170"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2316226	NM_001378328.1(CELSR1):c.4171G>C (p.Glu1391Gln)	CELSR1, LOC126863170 (E1391Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2562562	NM_001378328.1(CELSR1):c.4150G>A (p.Gly1384Ser)	CELSR1, LOC126863170 (G1384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265739	NM_001378328.1(CELSR1):c.4129C>T (p.Arg1377Cys)	CELSR1, LOC126863170 (R1377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265752	NM_001378328.1(CELSR1):c.4121C>G (p.Ala1374Gly)	CELSR1, LOC126863170 (A1374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363662	NM_001378328.1(CELSR1):c.4120G>A (p.Ala1374Thr)	CELSR1, LOC126863170 (A1374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265751	NM_001378328.1(CELSR1):c.4109A>G (p.Asp1370Gly)	CELSR1, LOC126863170 (D1370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265740	NM_001378328.1(CELSR1):c.4108G>A (p.Asp1370Asn)	CELSR1, LOC126863170 (D1370N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265750	NM_001378328.1(CELSR1):c.4103A>T (p.Tyr1368Phe)	CELSR1, LOC126863170 (Y1368F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265749	NM_001378328.1(CELSR1):c.4092C>G (p.Ile1364Met)	CELSR1, LOC126863170 (I1364M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265748	NM_001378328.1(CELSR1):c.4090A>G (p.Ile1364Val)	CELSR1, LOC126863170 (I1364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548904	NM_001378328.1(CELSR1):c.4084A>T (p.Thr1362Ser)	CELSR1, LOC126863170 (T1362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505001	NM_001378328.1(CELSR1):c.4036G>A (p.Gly1346Ser)	CELSR1, LOC126863170 (G1346S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3265746	NM_001378328.1(CELSR1):c.4034A>C (p.Asn1345Thr)	CELSR1, LOC126863170 (N1345T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265744	NM_001378328.1(CELSR1):c.4030A>G (p.Ile1344Val)	CELSR1, LOC126863170 (I1344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance