Related gene-specific medical variations for Gene (Select 5727) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378363	NM_000264.5(PTCH1):c.1922C>T (p.Pro641Leu)	LOC100507346, PTCH1 (P490L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3370791	NM_000264.5(PTCH1):c.2029ACC[3] (p.Thr678_Ala679insThr)	LOC100507346, PTCH1	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3369405	NM_000264.5(PTCH1):c.2309G>T (p.Arg770Leu)	LOC100507346, PTCH1 (R619L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3367479	NM_000264.5(PTCH1):c.14G>T (p.Gly5Val)	LOC130002133, PTCH1 (G5V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364632	NM_000264.5(PTCH1):c.2390A>G (p.Tyr797Cys)	LOC100507346, PTCH1 (Y646C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363310	NM_000264.5(PTCH1):c.2354C>T (p.Thr785Ile)	LOC100507346, PTCH1 (T719I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362790	NM_000264.5(PTCH1):c.1847G>C (p.Ser616Thr)	LOC100507346, PTCH1 (S465T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell nevus syndrome 1	GLikely pathogenic
Select item 3361986	NM_000264.5(PTCH1):c.3889C>G (p.Arg1297Gly)	PTCH1 (R1146G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359750	NM_000264.5(PTCH1):c.2854_2862del (p.Lys952_Asp954del)	PTCH1	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 3359135	NM_000264.5(PTCH1):c.3053_3054delinsAA (p.Trp1018Ter)	PTCH1 (W1017* +4 more)	Indel (nonsense +1 more)	Basal cell nevus syndrome 1	GPathogenic
Select item 3311206	NM_000264.5(PTCH1):c.1823T>G (p.Leu608Arg)	LOC100507346, PTCH1 (L556R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311201	NM_000264.5(PTCH1):c.1754T>G (p.Phe585Cys)	LOC100507346, PTCH1 (F519C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311193	NM_000264.5(PTCH1):c.2499G>T (p.Met833Ile)	LOC100507346, PTCH1 (M767I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311190	NM_000264.5(PTCH1):c.2153C>G (p.Ser718Cys)	LOC100507346, PTCH1 (S567C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311189	NM_000264.5(PTCH1):c.1851C>A (p.Pro617=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3311188	NM_000264.5(PTCH1):c.2327A>C (p.Asp776Ala)	LOC100507346, PTCH1 (D710A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311185	NM_000264.5(PTCH1):c.2135T>A (p.Leu712His)	LOC100507346, PTCH1 (L561H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311180	NM_000264.5(PTCH1):c.1947C>G (p.Ser649Arg)	LOC100507346, PTCH1 (S583R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311179	NM_000264.5(PTCH1):c.2361A>G (p.Glu787=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3311166	NM_000264.5(PTCH1):c.130G>A (p.Ala44Thr)	LOC130002133, PTCH1 (A44T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311165	NM_000264.5(PTCH1):c.1789A>G (p.Ser597Gly)	LOC100507346, PTCH1 (S545G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311164	NM_000264.5(PTCH1):c.1931C>A (p.Pro644His)	LOC100507346, PTCH1 (P643H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311157	NM_000264.5(PTCH1):c.1927C>A (p.Pro643Thr)	LOC100507346, PTCH1 (P643T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311156	NM_000264.5(PTCH1):c.97C>G (p.Arg33Gly)	LOC130002133, PTCH1 (R33G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311149	NM_000264.5(PTCH1):c.1989G>T (p.Gln663His)	LOC100507346, PTCH1 (Q662H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311148	NM_000264.5(PTCH1):c.1990C>T (p.Leu664Phe)	LOC100507346, PTCH1 (L612F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311145	NM_000264.5(PTCH1):c.143A>T (p.Asp48Val)	LOC130002133, PTCH1 (D48V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311142	NM_000264.5(PTCH1):c.2330T>A (p.Leu777His)	LOC100507346, PTCH1 (L777H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311138	NM_000264.5(PTCH1):c.2112C>T (p.Ser704=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3311136	NM_000264.5(PTCH1):c.2385C>G (p.Phe795Leu)	LOC100507346, PTCH1 (F644L +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311133	NM_000264.5(PTCH1):c.2250+4A>G	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311125	NM_000264.5(PTCH1):c.109_114del (p.Gly37_Gly38del)	LOC130002133, PTCH1	Deletion (inframe_deletion +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311103	NM_000264.5(PTCH1):c.-1C>T	LOC130002133, PTCH1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3257792	NM_000264.5(PTCH1):c.2426_2432dup (p.Asp811fs)	LOC100507346, PTCH1 (D660fs +4 more)	Duplication (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3256739	NM_000264.5(PTCH1):c.202-3C>G	LOC130002132, PTCH1	Single nucleotide variant (intron variant)	Holoprosencephaly 7	GLikely pathogenic
Select item 3256115	NM_000264.5(PTCH1):c.3512_3526del (p.Leu1171_Ser1176delinsPro)	PTCH1	Deletion (inframe_indel +1 more)	Basal cell nevus syndrome 1	Gnot provided
Select item 3245056	NC_000009.11:g.(?_98240426)_(98242927_?)del	PTCH1	Deletion	Gorlin syndrome	GLikely pathogenic
Select item 3245055	NC_000009.11:g.(?_98211526)_(98245954_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245054	NC_000009.11:g.(?_98211411)_(98213952_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245053	NC_000009.11:g.(?_98209294)_(98219532_?)del	PTCH1	Deletion	Gorlin syndrome	GUncertain significance
Select item 3245052	NC_000009.11:g.(?_98209431)_(98224833_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245051	NC_000009.11:g.(?_98231088)_(98232163_?)del	PTCH1	Deletion	Gorlin syndrome	GLikely pathogenic
Select item 3245049	NC_000009.11:g.(?_98240327)_(98279100_?)dup	PTCH1	Duplication	Gorlin syndrome	GUncertain significance
Select item 3245047	NC_000009.11:g.(?_98220285)_(98222075_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245046	NC_000009.11:g.(?_98221862)_(98226337_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245045	NC_000009.11:g.(?_98268679)_(98268891_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3245044	NC_000009.11:g.(?_98229388)_(98229717_?)del	PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3240227	NM_000264.5(PTCH1):c.1912_1913delinsTT (p.Arg638Phe)	LOC100507346, PTCH1 (R487F +4 more)	Indel (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240226	NM_000264.5(PTCH1):c.3058_3060delinsGAC (p.Gln1020Asp)	PTCH1 (Q1019D +4 more)	Indel (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240225	NM_000264.5(PTCH1):c.4018G>T (p.Gly1340Cys)	PTCH1 (G1189C +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240224	NM_000264.5(PTCH1):c.3912_3919dup (p.Pro1307fs)	PTCH1 (P1156fs +4 more)	Duplication (frameshift variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240223	NM_000264.5(PTCH1):c.1486A>G (p.Asn496Asp)	PTCH1 (N345D +3 more)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240222	NM_000264.5(PTCH1):c.689_690insTAA (p.Thr230_Pro231insLys)	PTCH1	Insertion (inframe_insertion +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240220	NM_000264.5(PTCH1):c.3473_3478del (p.Ile1158_Leu1159del)	PTCH1	Deletion (inframe_deletion +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240219	NM_000264.5(PTCH1):c.2657T>A (p.Leu886His)	PTCH1 (L735H +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240218	NM_000264.5(PTCH1):c.3726G>T (p.Glu1242Asp)	PTCH1 (E1091D +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240217	NM_000264.5(PTCH1):c.2800T>C (p.Tyr934His)	PTCH1 (Y783H +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240216	NM_000264.5(PTCH1):c.1892C>G (p.Thr631Ser)	LOC100507346, PTCH1 (T480S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240215	NM_000264.5(PTCH1):c.2969C>T (p.Ala990Val)	PTCH1 (A839V +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240214	NM_000264.5(PTCH1):c.1274C>A (p.Thr425Lys)	PTCH1 (T274K +3 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240213	NM_000264.5(PTCH1):c.1509G>T (p.Leu503Phe)	PTCH1 (L352F +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 3240212	NM_000264.5(PTCH1):c.2004C>G (p.Tyr668Ter)	LOC100507346, PTCH1 (Y517* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1	GLikely pathogenic
Select item 3231057	NM_000264.5(PTCH1):c.74_75delinsTT (p.Gly25Val)	LOC130002133, PTCH1 (G25V)	Indel (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231056	NM_000264.5(PTCH1):c.73G>C (p.Gly25Arg)	LOC130002133, PTCH1 (G25R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3231021	NM_000264.3:c.361_362insALU	PTCH1	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3231003	NM_000264.5(PTCH1):c.30C>A (p.Pro10=)	LOC130002133, PTCH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230992	NM_000264.5(PTCH1):c.27G>C (p.Glu9Asp)	LOC130002133, PTCH1 (E9D)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230983	NM_000264.5(PTCH1):c.2536C>T (p.His846Tyr)	LOC100507346, PTCH1 (H695Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230980	NM_000264.5(PTCH1):c.2463C>A (p.Asp821Glu)	LOC100507346, PTCH1 (D670E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230979	NM_000264.5(PTCH1):c.2307C>T (p.Thr769=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230978	NM_000264.5(PTCH1):c.2301C>T (p.Gly767=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230977	NM_000264.5(PTCH1):c.2251-1G>C	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3230975	NM_000264.5(PTCH1):c.2224C>G (p.Pro742Ala)	LOC100507346, PTCH1 (P591A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230974	NM_000264.5(PTCH1):c.2180G>C (p.Cys727Ser)	LOC100507346, PTCH1 (C576S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230973	NM_000264.5(PTCH1):c.2165G>C (p.Cys722Ser)	LOC100507346, PTCH1 (C670S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230971	NM_000264.5(PTCH1):c.2144T>A (p.Phe715Tyr)	LOC100507346, PTCH1 (F564Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230970	NM_000264.5(PTCH1):c.2106A>G (p.Pro702=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230969	NM_000264.5(PTCH1):c.2093G>A (p.Ser698Asn)	LOC100507346, PTCH1 (S547N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230968	NM_000264.5(PTCH1):c.2039A>C (p.Glu680Ala)	LOC100507346, PTCH1 (E529A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230967	NM_000264.5(PTCH1):c.2001G>T (p.Glu667Asp)	LOC100507346, PTCH1 (E516D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230966	NM_000264.5(PTCH1):c.1935C>T (p.Tyr645=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230965	NM_000264.5(PTCH1):c.1925dup (p.Pro643fs)	LOC100507346, PTCH1 (P492fs +4 more)	Duplication (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230964	NM_000264.5(PTCH1):c.1921_1938dup (p.Ser646_Ser647insProProProProTyrSer)	LOC100507346, PTCH1	Duplication (non-coding transcript variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230963	NM_000264.5(PTCH1):c.1913G>T (p.Arg638Leu)	LOC100507346, PTCH1 (R487L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230962	NM_000264.5(PTCH1):c.1909A>C (p.Thr637Pro)	LOC100507346, PTCH1 (T486P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230961	NM_000264.5(PTCH1):c.1873G>A (p.Val625Ile)	LOC100507346, PTCH1 (V474I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230960	NM_000264.5(PTCH1):c.1872G>C (p.Gln624His)	LOC100507346, PTCH1 (Q473H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230959	NM_000264.5(PTCH1):c.1849C>T (p.Pro617Ser)	LOC100507346, PTCH1 (P466S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230958	NM_000264.5(PTCH1):c.1847+5A>C	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230957	NM_000264.5(PTCH1):c.1807C>T (p.Arg603Cys)	LOC100507346, PTCH1 (R452C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230956	NM_000264.5(PTCH1):c.17del (p.Asn6fs)	LOC130002133, PTCH1 (N6fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230955	NM_000264.5(PTCH1):c.1783A>C (p.Ile595Leu)	LOC100507346, PTCH1 (I444L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3230954	NM_000264.5(PTCH1):c.1771A>G (p.Ile591Val)	LOC100507346, PTCH1 (I440V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230952	NM_000264.5(PTCH1):c.1750A>G (p.Asn584Asp)	LOC100507346, PTCH1 (N433D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230946	NM_000264.5(PTCH1):c.160A>G (p.Ser54Gly)	LOC130002133, PTCH1 (S54G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230942	NM_000264.5(PTCH1):c.155G>T (p.Arg52Leu)	LOC130002133, PTCH1 (R52L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230929	NM_000264.5(PTCH1):c.111_113delinsTGT (p.Gly38Val)	LOC130002133, PTCH1 (G38V)	Indel (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3220603	NM_000264.5(PTCH1):c.2011del (p.His671fs)	LOC100507346, PTCH1 (H670fs +4 more)	Deletion (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3062242	NM_000264.5(PTCH1):c.3358del (p.Glu1120fs)	PTCH1 (E1054fs +4 more)	Deletion (frameshift variant +1 more)	Basal cell nevus syndrome 1	GLikely pathogenic
Select item 3061362	NM_000264.5(PTCH1):c.2151C>G (p.Asp717Glu)	LOC100507346, PTCH1 (D566E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PTCH1-related disorder	GUncertain significance

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