ClinVar for Gene (Select 23384) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168824	NM_015330.6(SPECC1L):c.259T>A (p.Ser87Thr)	SPECC1L, SPECC1L-ADORA2A (S87T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168823	NM_015330.6(SPECC1L):c.2327G>T (p.Arg776Leu)	SPECC1L, SPECC1L-ADORA2A (R776L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168822	NM_015330.6(SPECC1L):c.2231C>T (p.Ala744Val)	SPECC1L, SPECC1L-ADORA2A (A744V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168821	NM_015330.6(SPECC1L):c.2227T>A (p.Ser743Thr)	SPECC1L, SPECC1L-ADORA2A (S743T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168820	NM_015330.6(SPECC1L):c.2147A>G (p.Asn716Ser)	SPECC1L, SPECC1L-ADORA2A (N716S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168819	NM_015330.6(SPECC1L):c.2089G>A (p.Val697Ile)	SPECC1L, SPECC1L-ADORA2A (V697I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168818	NM_015330.6(SPECC1L):c.1916G>A (p.Arg639Gln)	SPECC1L, SPECC1L-ADORA2A (R639Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168817	NM_015330.6(SPECC1L):c.1898C>T (p.Thr633Ile)	SPECC1L, SPECC1L-ADORA2A (T633I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168815	NM_015330.6(SPECC1L):c.1502A>G (p.Asn501Ser)	SPECC1L, SPECC1L-ADORA2A (N501S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168814	NM_015330.6(SPECC1L):c.1148G>C (p.Gly383Ala)	SPECC1L, SPECC1L-ADORA2A (G383A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	GGT5, GSTT1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 3069098	NM_015330.6(SPECC1L):c.1387A>T (p.Ile463Phe)	SPECC1L, SPECC1L-ADORA2A (I463F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3067368	NM_015330.6(SPECC1L):c.2150C>T (p.Thr717Ile)	SPECC1L, SPECC1L-ADORA2A (T717I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3066111	NM_015330.6(SPECC1L):c.3314T>G (p.Met1105Arg)	SPECC1L, SPECC1L-ADORA2A (M1066R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
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 condition	GLikely 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 condition	GLikely benign
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 condition	GLikely benign
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 condition	GLikely benign
Select item 3036900	NM_015330.6(SPECC1L):c.2827+8C>T	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	SPECC1L-related condition	GLikely benign
Select item 3036084	NM_015330.6(SPECC1L):c.996A>G (p.Thr332=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related condition	GLikely 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 condition	GUncertain significance
Select item 3029677	NM_015330.6(SPECC1L):c.3205-9C>G	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	SPECC1L-related condition	GLikely benign
Select item 3026242	NM_015330.6(SPECC1L):c.154-1252C>T	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3023925	NM_015330.6(SPECC1L):c.664G>A (p.Gly222Ser)	SPECC1L, SPECC1L-ADORA2A (G222S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2993238	NM_015330.6(SPECC1L):c.698C>T (p.Ala233Val)	SPECC1L, SPECC1L-ADORA2A (A233V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2991956	NM_015330.6(SPECC1L):c.2312T>G (p.Ile771Ser)	SPECC1L, SPECC1L-ADORA2A (I771S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2976051	NM_015330.6(SPECC1L):c.3089A>T (p.Asn1030Ile)	SPECC1L, SPECC1L-ADORA2A (N1030I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2971188	NM_015330.6(SPECC1L):c.2396A>G (p.Lys799Arg)	SPECC1L, SPECC1L-ADORA2A (K799R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2970275	NM_015330.6(SPECC1L):c.464G>A (p.Arg155His)	SPECC1L, SPECC1L-ADORA2A (R155H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2967531	NM_015330.6(SPECC1L):c.895A>G (p.Thr299Ala)	SPECC1L, SPECC1L-ADORA2A (T299A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2965898	NM_015330.6(SPECC1L):c.2560+17A>G	SPECC1L-ADORA2A, SPECC1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962256	NM_015330.6(SPECC1L):c.1104C>T (p.Ser368=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2956422	NM_015330.6(SPECC1L):c.2828-11_2828-10del	SPECC1L, SPECC1L-ADORA2A	Deletion (intron variant)	not provided	GUncertain significance
Select item 2918593	NM_015330.6(SPECC1L):c.494G>A (p.Arg165His)	SPECC1L, SPECC1L-ADORA2A (R165H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2893532	NM_015330.6(SPECC1L):c.694A>G (p.Met232Val)	SPECC1L, SPECC1L-ADORA2A (M232V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2890691	NM_015330.6(SPECC1L):c.3205-7T>C	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887085	NM_015330.6(SPECC1L):c.2743+4C>T	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2886532	NM_015330.6(SPECC1L):c.2594C>T (p.Thr865Met)	SPECC1L, SPECC1L-ADORA2A (T865M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2878705	NM_015330.6(SPECC1L):c.1381C>T (p.Arg461Ter)	SPECC1L, SPECC1L-ADORA2A (R461*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2871689	NM_015330.6(SPECC1L):c.155C>G (p.Thr52Ser)	SPECC1L, SPECC1L-ADORA2A (T52S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2868230	NM_015330.6(SPECC1L):c.1553A>G (p.Asn518Ser)	SPECC1L, SPECC1L-ADORA2A (N518S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2852611	NM_015330.6(SPECC1L):c.2091A>G (p.Val697=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2849852	NM_015330.6(SPECC1L):c.240A>G (p.Pro80=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2823055	NM_015330.6(SPECC1L):c.2259C>G (p.Leu753=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2811611	NM_015330.6(SPECC1L):c.427C>T (p.Gln143Ter)	SPECC1L, SPECC1L-ADORA2A (Q143*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2793180	NM_015330.6(SPECC1L):c.2396+10G>A	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759588	NM_015330.6(SPECC1L):c.707C>T (p.Pro236Leu)	SPECC1L, SPECC1L-ADORA2A (P236L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2740683	NM_015330.6(SPECC1L):c.2075A>G (p.Glu692Gly)	SPECC1L, SPECC1L-ADORA2A (E692G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2710375	NM_015330.6(SPECC1L):c.2952A>T (p.Ala984=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2704383	NM_015330.6(SPECC1L):c.1244A>G (p.Gln415Arg)	SPECC1L, SPECC1L-ADORA2A (Q415R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2703350	NM_015330.6(SPECC1L):c.2505A>G (p.Ser835=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	GUCD1, IGLC1 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672899	NM_015330.6(SPECC1L):c.1894C>A (p.His632Asn)	SPECC1L, SPECC1L-ADORA2A (H632N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2664281	NM_015330.6(SPECC1L):c.578A>G (p.Lys193Arg)	SPECC1L, SPECC1L-ADORA2A (K193R)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 2652997	NM_015330.6(SPECC1L):c.2218C>T (p.Arg740Trp)	SPECC1L, SPECC1L-ADORA2A (R740W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2652996	NM_015330.6(SPECC1L):c.723C>T (p.Ser241=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652995	NM_015330.6(SPECC1L):c.665G>A (p.Gly222Asp)	SPECC1L, SPECC1L-ADORA2A (G222D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2652994	NM_015330.6(SPECC1L):c.588C>T (p.Asp196=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652993	NM_015330.6(SPECC1L):c.490G>A (p.Val164Ile)	SPECC1L, SPECC1L-ADORA2A (V164I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652992	NM_015330.6(SPECC1L):c.393A>T (p.Arg131=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652991	NM_015330.6(SPECC1L):c.201G>A (p.Thr67=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652990	NM_015330.6(SPECC1L):c.154-1238C>T	SPECC1L-ADORA2A, SPECC1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2652989	NM_015330.6(SPECC1L):c.-37-8T>C	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635461	NM_015330.6(SPECC1L):c.1696A>G (p.Lys566Glu)	SPECC1L, SPECC1L-ADORA2A (K566E)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related condition	GUncertain significance
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 condition	GUncertain significance
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 condition	GUncertain significance
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 condition	GUncertain significance
Select item 2631320	NM_015330.6(SPECC1L):c.1061A>G (p.Gln354Arg)	SPECC1L, SPECC1L-ADORA2A (Q354R)	Single nucleotide variant (missense variant +1 more)	SPECC1L-related condition	GUncertain significance
Select item 2630654	NM_015330.6(SPECC1L):c.1933G>A (p.Ala645Thr)	SPECC1L, SPECC1L-ADORA2A (A645T)	Single nucleotide variant (missense variant +1 more)	SPECC1L-related condition	GUncertain significance
Select item 2630588	NM_015330.6(SPECC1L):c.152A>G (p.Lys51Arg)	SPECC1L, SPECC1L-ADORA2A (K51R)	Single nucleotide variant (missense variant +1 more)	SPECC1L-related condition	GUncertain significance
Select item 2617520	NM_015330.6(SPECC1L):c.2329C>T (p.Arg777Trp)	SPECC1L, SPECC1L-ADORA2A (R777W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2581690	NM_015330.6(SPECC1L):c.1149G>T (p.Gly383=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2580729	NM_015330.6(SPECC1L):c.367A>G (p.Arg123Gly)	SPECC1L, SPECC1L-ADORA2A (R123G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2560303	NM_015330.6(SPECC1L):c.230G>A (p.Ser77Asn)	SPECC1L, SPECC1L-ADORA2A (S77N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531670	NM_015330.6(SPECC1L):c.1031A>C (p.Asn344Thr)	SPECC1L, SPECC1L-ADORA2A (N344T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507062	NM_015330.6(SPECC1L):c.2419del (p.Val807fs)	SPECC1L, SPECC1L-ADORA2A (V807fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2505805	NM_015330.6(SPECC1L):c.913G>A (p.Asp305Asn)	SPECC1L, SPECC1L-ADORA2A (D305N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2501435	NM_015330.6(SPECC1L):c.1768G>A (p.Val590Met)	SPECC1L, SPECC1L-ADORA2A (V590M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2501317	NM_015330.6(SPECC1L):c.1045T>C (p.Cys349Arg)	SPECC1L, SPECC1L-ADORA2A (C349R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2491577	NM_015330.6(SPECC1L):c.3269T>C (p.Ile1090Thr)	SPECC1L, SPECC1L-ADORA2A (I1051T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466202	NM_015330.6(SPECC1L):c.106A>G (p.Thr36Ala)	SPECC1L, SPECC1L-ADORA2A (T36A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443681	NM_015330.6(SPECC1L):c.2034A>T (p.Glu678Asp)	SPECC1L-ADORA2A, SPECC1L (E678D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2443270	NM_015330.6(SPECC1L):c.1401C>T (p.Arg467=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2436281	NM_015330.6(SPECC1L):c.1636C>T (p.Arg546Ter)	SPECC1L, SPECC1L-ADORA2A (R546*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2436280	NM_015330.6(SPECC1L):c.2801C>T (p.Ala934Val)	SPECC1L, SPECC1L-ADORA2A (A934V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2436279	NM_015330.6(SPECC1L):c.1997A>G (p.Asn666Ser)	SPECC1L-ADORA2A, SPECC1L (N666S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2436278	NM_015330.6(SPECC1L):c.551A>G (p.Lys184Arg)	SPECC1L, SPECC1L-ADORA2A (K184R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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
Select item 2389730	NM_015330.6(SPECC1L):c.233C>T (p.Thr78Ile)	SPECC1L, SPECC1L-ADORA2A (T78I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327390	NM_015330.6(SPECC1L):c.1753A>C (p.Asn585His)	SPECC1L, SPECC1L-ADORA2A (N585H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327185	NM_015330.6(SPECC1L):c.164G>T (p.Ser55Ile)	SPECC1L, SPECC1L-ADORA2A (S55I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325231	NM_015330.6(SPECC1L):c.554T>A (p.Val185Glu)	SPECC1L, SPECC1L-ADORA2A (V185E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306964	NM_015330.6(SPECC1L):c.41T>C (p.Val14Ala)	SPECC1L, SPECC1L-ADORA2A (V14A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304609	NM_015330.6(SPECC1L):c.2885C>T (p.Ser962Leu)	SPECC1L, SPECC1L-ADORA2A (S962L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2287305	NM_015330.6(SPECC1L):c.1913del (p.Asn638fs)	SPECC1L, SPECC1L-ADORA2A (N638fs)	Deletion (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281349	NM_015330.6(SPECC1L):c.626T>C (p.Met209Thr)	SPECC1L, SPECC1L-ADORA2A (M209T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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