"PreventionGenetics, part of Exact Sciences"[submitter] AND "SPECC1L"[ - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 724620	NM_015330.6(SPECC1L):c.45T>C (p.Ser15=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 501515	NM_015330.6(SPECC1L):c.87A>T (p.Glu29Asp)	SPECC1L, SPECC1L-ADORA2A (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +1 more	GUncertain significance
Select item 2630588	NM_015330.6(SPECC1L):c.152A>G (p.Lys51Arg)	SPECC1L, SPECC1L-ADORA2A (K51R)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 731574	NM_015330.6(SPECC1L):c.153+5T>G	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	Oculomaxillofacial dysostosis +3 more	GLikely benign
Select item 713241	NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe)	SPECC1L-ADORA2A, SPECC1L (S98F)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 788044	NM_015330.6(SPECC1L):c.310A>G (p.Thr104Ala)	SPECC1L, SPECC1L-ADORA2A (T104A)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +1 more	GBenign/Likely benign
Select item 3046294	NM_015330.6(SPECC1L):c.351A>G (p.Lys117=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GLikely benign
Select item 2436282	NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe)	SPECC1L, SPECC1L-ADORA2A (S121F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 711743	NM_015330.6(SPECC1L):c.496A>G (p.Met166Val)	SPECC1L-ADORA2A, SPECC1L (M166V)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +2 more	GLikely benign
Select item 1318935	NM_015330.6(SPECC1L):c.534_535del (p.Arg178fs)	SPECC1L, SPECC1L-ADORA2A (R178fs)	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1335994	NM_015330.6(SPECC1L):c.600A>T (p.Leu200Phe)	SPECC1L, SPECC1L-ADORA2A (L200F)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +2 more	GBenign
Select item 3037118	NM_015330.6(SPECC1L):c.726T>C (p.Thr242=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GLikely benign
Select item 3036084	NM_015330.6(SPECC1L):c.996A>G (p.Thr332=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (synonymous variant +1 more)	SPECC1L-related disorder	GLikely benign
Select item 2631320	NM_015330.6(SPECC1L):c.1061A>G (p.Gln354Arg)	SPECC1L, SPECC1L-ADORA2A (Q354R)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 771940	NM_015330.6(SPECC1L):c.1329T>G (p.Val443=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +2 more	GBenign
Select item 3045112	NM_015330.6(SPECC1L):c.1395C>T (p.Tyr465=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GLikely benign
Select item 773371	NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His)	SPECC1L, SPECC1L-ADORA2A (R487H)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome +3 more	GBenign/Likely benign
Select item 731144	NM_015330.6(SPECC1L):c.1542G>A (p.Gln514=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3029720	NM_015330.6(SPECC1L):c.1682C>T (p.Thr561Met)	SPECC1L, SPECC1L-ADORA2A (T561M)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 2635461	NM_015330.6(SPECC1L):c.1696A>G (p.Lys566Glu)	SPECC1L-ADORA2A, SPECC1L (K566E)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 2630654	NM_015330.6(SPECC1L):c.1933G>A (p.Ala645Thr)	SPECC1L, SPECC1L-ADORA2A (A645T)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 1666642	NM_015330.6(SPECC1L):c.2003C>T (p.Thr668Met)	SPECC1L-ADORA2A, SPECC1L (T668M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 789679	NM_015330.6(SPECC1L):c.2004G>A (p.Thr668=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +1 more	GLikely benign
Select item 708645	NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala)	SPECC1L, SPECC1L-ADORA2A (T717A)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +3 more	GBenign/Likely benign
Select item 711765	NM_015330.6(SPECC1L):c.2205C>T (p.Leu735=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 733294	NM_015330.6(SPECC1L):c.2397-8A>G	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2631481	NM_015330.6(SPECC1L):c.2426_2427del (p.Asn809fs)	SPECC1L, SPECC1L-ADORA2A (N809fs)	Deletion (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 1049294	NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile)	SPECC1L, SPECC1L-ADORA2A (V814I)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +2 more	GBenign/Likely benign
Select item 748393	NM_015330.6(SPECC1L):c.2701C>T (p.Leu901=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +2 more)	SPECC1L-related disorder +1 more	GLikely benign
Select item 1335995	NM_015330.6(SPECC1L):c.2743+10A>G	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	SPECC1L-related disorder +2 more	GBenign
Select item 3036900	NM_015330.6(SPECC1L):c.2827+8C>T	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	SPECC1L-related disorder	GLikely benign
Select item 764090	NM_015330.6(SPECC1L):c.2882C>T (p.Ala961Val)	SPECC1L, SPECC1L-ADORA2A (A27V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +2 more	GBenign/Likely benign
Select item 756079	NM_015330.6(SPECC1L):c.2883G>A (p.Ala961=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +1 more	GBenign/Likely benign
Select item 2633807	NM_015330.6(SPECC1L):c.2926C>G (p.Leu976Val)	SPECC1L, SPECC1L-ADORA2A (L42V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 726029	NM_015330.6(SPECC1L):c.3013T>C (p.Leu1005=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder +1 more	GBenign/Likely benign
Select item 3047337	NM_015330.6(SPECC1L):c.3054G>T (p.Leu1018=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GLikely benign
Select item 3029677	NM_015330.6(SPECC1L):c.3205-9C>G	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	SPECC1L-related disorder	GLikely benign
Select item 2633680	NM_015330.6(SPECC1L):c.3227T>C (p.Phe1076Ser)	SPECC1L, SPECC1L-ADORA2A (F1037S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related disorder	GUncertain significance
Select item 2408562	NM_015330.6(SPECC1L):c.3259A>G (p.Thr1087Ala)	SPECC1L, SPECC1L-ADORA2A (T153A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 39