ClinVar (all) for Orgtrack (Select 509374) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672074	NM_001407.3(CELSR3):c.8480C>A (p.Thr2827Asn)	CELSR3 (T2827N)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672073	NM_001407.3(CELSR3):c.7224_7226del (p.Ile2409del)	CELSR3 (I2409del)	Deletion (inframe_deletion)	See cases	GUncertain significance
Select item 2672072	NM_001407.3(CELSR3):c.7075C>T (p.Pro2359Ser)	CELSR3 (P2359S)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672071	NM_001407.3(CELSR3):c.5059C>T (p.His1687Tyr)	CELSR3 (H1687Y)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672070	NM_001407.3(CELSR3):c.6304G>A (p.Ala2102Thr)	CELSR3 (A2102T)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672069	NM_001407.3(CELSR3):c.8758C>T (p.Arg2920Trp)	CELSR3 (R2920W)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 2672068	NM_001407.3(CELSR3):c.7423C>T (p.Arg2475Trp)	CELSR3 (R2475W)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672067	NM_001407.3(CELSR3):c.9299G>C (p.Gly3100Ala)	CELSR3 (G3100A)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672066	NM_001407.3(CELSR3):c.3100G>C (p.Glu1034Gln)	CELSR3 (E1034Q)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
Select item 2672065	NM_001407.3(CELSR3):c.3142C>T (p.Arg1048Trp)	CELSR3 (R1048W)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
Select item 2672064	NM_001407.3(CELSR3):c.7501G>A (p.Glu2501Lys)	CELSR3 (E2501K)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672063	NM_001407.3(CELSR3):c.3712C>T (p.Arg1238Cys)	CELSR3 (R1238C)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672062	NM_001407.3(CELSR3):c.4034C>T (p.Pro1345Leu)	CELSR3 (P1345L)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 2672061	NM_001407.3(CELSR3):c.6959T>C (p.Val2320Ala)	CELSR3 (V2320A)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672060	NM_001407.3(CELSR3):c.7999G>A (p.Gly2667Ser)	CELSR3 (G2667S)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2672059	NM_001407.3(CELSR3):c.1574G>A (p.Arg525His)	CELSR3 (R525H)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic