"Eurofins Ntd Llc (ga)"[submitter] AND "CPLANE1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497065	NM_001384732.1(CPLANE1):c.9181_9185+1del	CPLANE1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 158059	NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +3 more	GBenign
Select item 197596	NM_001384732.1(CPLANE1):c.9085del (p.Ser3029fs)	CPLANE1 (S2975fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 197551	NM_001384732.1(CPLANE1):c.8958+4A>C	CPLANE1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 197531	NM_001384732.1(CPLANE1):c.8779A>G (p.Met2927Val)	CPLANE1 (M2873V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 158058	NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17 +3 more	GBenign
Select item 197507	NM_001384732.1(CPLANE1):c.8633-3del	CPLANE1	Deletion (intron variant)	Familial aplasia of the vermis +2 more	GBenign/Likely benign
Select item 197492	NM_001384732.1(CPLANE1):c.8462-1G>C	CPLANE1	Single nucleotide variant (splice acceptor variant)	Orofaciodigital syndrome type 6 +5 more	GConflicting classifications of pathogenicity
Select item 158054	NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)	CPLANE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 497688	NM_001384732.1(CPLANE1):c.8242G>A (p.Ala2748Thr)	CPLANE1 (A2694T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196922	NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 158050	NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)	CPLANE1 (T2302M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 196711	NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196186	NM_001384732.1(CPLANE1):c.5738-6C>T	CPLANE1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 158041	NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)	CPLANE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158037	NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 210553	NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)	CPLANE1 (H1506R)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GConflicting classifications of pathogenicity
Select item 195904	NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)	LOC129389274, CPLANE1 (T1463I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195905	NM_001384732.1(CPLANE1):c.4190-10_4190-9del	CPLANE1	Deletion (intron variant)	Familial aplasia of the vermis +2 more	GBenign/Likely benign
Select item 501516	NM_001384732.1(CPLANE1):c.3846G>A (p.Met1282Ile)	CPLANE1 (M1282I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195696	NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 194985	NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 288020	NM_001384732.1(CPLANE1):c.3341T>A (p.Val1114Glu)	CPLANE1 (V1114E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 291090	NM_001384732.1(CPLANE1):c.3295A>G (p.Ile1099Val)	CPLANE1 (I1099V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194673	NM_001384732.1(CPLANE1):c.2848T>G (p.Phe950Val)	CPLANE1 (F950V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194561	NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)	CPLANE1 (S875F)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GConflicting classifications of pathogenicity
Select item 217584	NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)	CPLANE1 (R785*)	Single nucleotide variant (nonsense)	Joubert syndrome 17 +1 more	GPathogenic
Select item 507650	NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu)	CPLANE1 (S711L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 194120	NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)	CPLANE1 (Y607fs)	Duplication (frameshift variant)	Joubert syndrome and related disorders +3 more	GPathogenic/Likely pathogenic
Select item 193928	NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)	CPLANE1 (D486N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 193929	NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)	CPLANE1 (L471V)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +3 more	GConflicting classifications of pathogenicity
Select item 288021	NM_001384732.1(CPLANE1):c.1372-2A>G	CPLANE1	Single nucleotide variant (splice acceptor variant)	Orofaciodigital syndrome type 6 +2 more	GPathogenic
Select item 193738	NM_001384732.1(CPLANE1):c.1371+5A>G	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 158026	NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 199170	NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)	CPLANE1 (T323M)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GConflicting classifications of pathogenicity
Select item 288541	NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)	CPLANE1 (Y203C)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GConflicting classifications of pathogenicity
Select item 285112	NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del)	CPLANE1 (K178del)	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 197337	NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)	CPLANE1 (A74V)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GConflicting classifications of pathogenicity

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Items: 38