Related gene-specific medical variations for Gene (Select 9620) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362185	NM_001378328.1(CELSR1):c.6628G>A (p.Glu2210Lys)	CELSR1 (E2210K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362065	NM_001378328.1(CELSR1):c.4821AGA[1] (p.Glu1608del)	CELSR1 (E1608del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3361248	NM_001378328.1(CELSR1):c.2515C>T (p.Pro839Ser)	CELSR1 (P839S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360920	NM_001378328.1(CELSR1):c.6978_6983del (p.Arg2327_Arg2328del)	CELSR1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3359681	NM_001378328.1(CELSR1):c.2017G>A (p.Val673Met)	CELSR1 (V673M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3265761	NM_001378328.1(CELSR1):c.7402C>G (p.Leu2468Val)	CELSR1, LOC121627952 (L2468V)	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 3265751	NM_001378328.1(CELSR1):c.4109A>G (p.Asp1370Gly)	CELSR1, LOC126863170 (D1370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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
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 3265739	NM_001378328.1(CELSR1):c.4129C>T (p.Arg1377Cys)	CELSR1, LOC126863170 (R1377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250573	NM_001378328.1(CELSR1):c.6739+8G>A	CELSR1, LOC126863169	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3237447	NM_001378328.1(CELSR1):c.6544G>A (p.Asp2182Asn)	CELSR1 (D2182N)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
Select item 3237445	NM_001378328.1(CELSR1):c.692G>T (p.Arg231Leu)	CELSR1 (R231L)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
Select item 3237440	NM_001378328.1(CELSR1):c.7715G>A (p.Arg2572Gln)	CELSR1 (R2572Q)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
Select item 3237431	NM_001378328.1(CELSR1):c.7256C>T (p.Ala2419Val)	CELSR1 (A2419V)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
Select item 3237429	NM_001378328.1(CELSR1):c.3169C>T (p.Arg1057Cys)	CELSR1 (R1057C)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
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 3141996	NM_001378328.1(CELSR1):c.6622C>G (p.Arg2208Gly)	CELSR1, LOC126863169 (R2208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056956	NM_001378328.1(CELSR1):c.6656G>A (p.Arg2219His)	CELSR1, LOC126863169 (R2219H)	Single nucleotide variant (missense variant)	CELSR1-related disorder	GBenign
Select item 3052092	NM_001378328.1(CELSR1):c.4086G>A (p.Thr1362=)	CELSR1, LOC126863170	Single nucleotide variant (synonymous variant)	CELSR1-related disorder	GLikely benign
Select item 3045607	NM_001378328.1(CELSR1):c.6711G>A (p.Arg2237=)	CELSR1, LOC126863169	Single nucleotide variant (synonymous variant)	CELSR1-related disorder	GLikely benign
Select item 3044193	NM_001378328.1(CELSR1):c.7584+9A>T	CELSR1, LOC121627952	Single nucleotide variant (intron variant)	CELSR1-related disorder	GBenign
Select item 3031488	NM_001378328.1(CELSR1):c.4113G>A (p.Pro1371=)	CELSR1, LOC126863170	Single nucleotide variant (synonymous variant)	CELSR1-related disorder	GLikely benign
Select item 2672179	NM_001378328.1(CELSR1):c.6463A>G (p.Thr2155Ala)	CELSR1 (T2155A)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
Select item 2672173	NM_001378328.1(CELSR1):c.4270G>A (p.Gly1424Ser)	CELSR1 (G1424S)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
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 2672129	NM_001378328.1(CELSR1):c.4903G>A (p.Gly1635Arg)	CELSR1 (G1635R)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	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)	not provided	GLikely benign
Select item 2653317	NM_001378328.1(CELSR1):c.7524C>T (p.Ala2508=)	CELSR1, LOC121627952	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2636389	NM_001378328.1(CELSR1):c.4085C>T (p.Thr1362Met)	CELSR1, LOC126863170 (T1362M)	Single nucleotide variant (missense variant)	CELSR1-related disorder	GUncertain significance
Select item 2580939	NM_001378328.1(CELSR1):c.7797C>A (p.Asn2599Lys)	CELSR1 (N2599K)	Single nucleotide variant (missense variant)	Lymphatic malformation 9	GUncertain significance
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 2562562	NM_001378328.1(CELSR1):c.4150G>A (p.Gly1384Ser)	CELSR1, LOC126863170 (G1384S)	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 2505588	NM_001378328.1(CELSR1):c.4066A>T (p.Thr1356Ser)	CELSR1, LOC126863170 (T1356S)	Single nucleotide variant (missense variant)	not provided	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 2446592	NM_001378328.1(CELSR1):c.6724G>T (p.Val2242Phe)	CELSR1, LOC126863169 (V2242F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442489	NM_001378328.1(CELSR1):c.6714del (p.Phe2239fs)	CELSR1, LOC126863169 (F2239fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2430808	NM_001378328.1(CELSR1):c.6577G>A (p.Ala2193Thr)	CELSR1, LOC126863169 (A2193T)	Single nucleotide variant (missense variant)	not provided	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 2316226	NM_001378328.1(CELSR1):c.4171G>C (p.Glu1391Gln)	CELSR1, LOC126863170 (E1391Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297156	NM_001378328.1(CELSR1):c.7568A>G (p.Asn2523Ser)	CELSR1, LOC121627952 (N2523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287225	NM_001378328.1(CELSR1):c.6634G>C (p.Gly2212Arg)	CELSR1, LOC126863169 (G2212R)	Single nucleotide variant (missense variant)	not specified	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 2266227	NM_001378328.1(CELSR1):c.6683C>A (p.Ala2228Glu)	CELSR1, LOC126863169 (A2228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2210609	NM_001378328.1(CELSR1):c.6559G>A (p.Val2187Ile)	CELSR1, LOC126863169 (V2187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205675	NM_001378328.1(CELSR1):c.6625A>G (p.Ser2209Gly)	CELSR1, LOC126863169 (S2209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696726	NM_001378328.1(CELSR1):c.929T>C (p.Val310Ala)	CELSR1 (V310A)	Single nucleotide variant (missense variant)	CELSR1-associated congenital heartdefects	GUncertain significance
Select item 1690332	NM_001378328.1(CELSR1):c.6826G>C (p.Glu2276Gln)	CELSR1 (E2276Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321142	NM_001378328.1(CELSR1):c.4136G>A (p.Arg1379His)	CELSR1, LOC126863170 (R1379H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317860	NM_001378328.1(CELSR1):c.6569C>T (p.Ser2190Leu)	CELSR1, LOC126863169 (S2190L)	Single nucleotide variant (missense variant)	not provided	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)	not provided +1 more	GBenign/Likely benign
Select item 783895	NM_001378328.1(CELSR1):c.6576C>T (p.Ser2192=)	CELSR1, LOC126863169	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777755	NM_001378328.1(CELSR1):c.7395C>A (p.Val2465=)	LOC121627952, CELSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 598933	NM_001378328.1(CELSR1):c.6739+1G>A	CELSR1, LOC126863169	Single nucleotide variant (splice donor variant)	Lymphatic malformation	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65