C2751544[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 415451	NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)	PTCH2 (I1121M)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 453938	NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)	PTCH2 (P1116L)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 524627	NM_003738.5(PTCH2):c.2661C>T (p.His887=)	PTCH2	Single nucleotide variant (synonymous variant)	Basal cell carcinoma, susceptibility to, 1 +3 more	GLikely benign
Select item 239558	NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)	PTCH2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 696061	NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)	PTCH2 (R665H)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GLikely benign
Select item 700208	NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)	PTCH2 (A594T)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1 +2 more	GLikely benign
Select item 524558	NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)	PTCH2 (L189V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1431454	NM_003738.5(PTCH2):c.550G>A (p.Val184Met)	PTCH2 (V184M)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 652794	NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)	PTCH2 (E83K)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 570977	NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)	PTCH2 (R37C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 453931	NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)	PTCH2 (L7V)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 354505	NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)	RASA1 (G75A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1000681	NM_002890.3(RASA1):c.239C>T (p.Ala80Val)	RASA1 (A80V)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 213659	NM_002890.3(RASA1):c.296C>T (p.Ala99Val)	RASA1 (A99V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +6 more	GBenign/Likely benign
Select item 354509	NM_002890.3(RASA1):c.360C>A (p.Pro120=)	RASA1	Single nucleotide variant (synonymous variant)	Basal cell carcinoma, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 411714	NM_002890.3(RASA1):c.613_617del (p.Leu205fs)	CCNH, RASA1 (L205fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +3 more	GPathogenic
Select item 464870	NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)	CCNH, RASA1 (S219* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic
Select item 1078218	NM_002890.3(RASA1):c.1209A>G (p.Pro403=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +3 more	GLikely benign
Select item 213660	NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)	CCNH, RASA1 (R711* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +4 more	GPathogenic
Select item 565648	NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)	CCNH, RASA1 (R749* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +3 more	GPathogenic
Select item 1691334	NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys)	CCNH, RASA1 (I644K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 411713	NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)	CCNH, RASA1 (Q1019* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic/Likely pathogenic
Select item 736286	NM_005631.5(SMO):c.621C>T (p.Tyr207=)	SMO	Single nucleotide variant (synonymous variant)	Hamartoma of hypothalamus +3 more	GBenign/Likely benign
Select item 216390	NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser)	PTCH1 (P1375S +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 220426	NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)	PTCH1 (E1372G +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 646640	NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu)	PTCH1 (P1411L +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 135105	NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)	PTCH1 (G1322R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 577111	NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)	PTCH1 (A1380T +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 237495	NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met)	PTCH1 (T1306M +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 188148	NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp)	PTCH1 (N1285D +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 577136	NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)	PTCH1 (R1284Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215461	NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)	PTCH1 (R1284W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 220391	NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)	PTCH1 (N1282S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 409167	NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)	PTCH1 (R1342C +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 188130	NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)	PTCH1 (S1268N +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GLikely benign
Select item 1044851	NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr)	PTCH1 (A1321T +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 659978	NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)	PTCH1 (G1244D +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 132753	NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)	PTCH1 (P1241S +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 524547	NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)	PTCH1 (R1303L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 409208	NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)	PTCH1 (Q1179R +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 951905	NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu)	PTCH1 (Q1094E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 486183	NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)	PTCH1 (R1126H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220553	NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +5 more	GBenign
Select item 409155	NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)	PTCH1 (D1146N +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 221158	NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met)	PTCH1 (V976M +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 579383	NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg)	PTCH1 (S892R +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +4 more	GUncertain significance
Select item 220717	NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)	PTCH1 (G825S +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 216378	NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)	PTCH1 (D813N +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 524521	NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)	LOC100507346, PTCH1 (M833V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 188150	NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)	LOC100507346, PTCH1 (N748H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524567	NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val)	LOC100507346, PTCH1 (I805V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 453823	NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr)	LOC100507346, PTCH1 (M737T +4 more)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 524507	NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)	LOC100507346, PTCH1 (V763F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 820838	NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys)	LOC100507346, PTCH1 (W664C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 8222	NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)	LOC100507346, PTCH1 (T728M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 237462	NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)	LOC100507346, PTCH1 (Q597H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 524582	NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys)	LOC100507346, PTCH1 (E538K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 215456	NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 819720	NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val)	PTCH1 (A497V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 524593	NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)	PTCH1 (F516V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 409142	NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr)	PTCH1 (A385T +3 more)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 970941	NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr)	PTCH1 (S432Y +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GUncertain significance
Select item 409137	NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)	PTCH1 (E380K +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220376	NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +5 more	GBenign/Likely benign
Select item 220375	NM_000264.5(PTCH1):c.1074T>C (p.His358=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +5 more	GBenign/Likely benign
Select item 578248	NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)	PTCH1 (L251F +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GUncertain significance
Select item 524544	NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)	PTCH1 (D235N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1017034	NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)	PTCH1 (L157I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215705	NM_000264.5(PTCH1):c.584+10G>A	PTCH1	Single nucleotide variant (intron variant)	Basal cell carcinoma, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 486174	NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)	PTCH1 (R138C +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 132719	NM_000264.5(PTCH1):c.318C>T (p.Leu106=)	PTCH1	Single nucleotide variant (synonymous variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 620601	NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)	PTCH1 (G2E +2 more)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 409215	NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)	PTCH1 (A61T)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 188208	NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)	LOC130002133, PTCH1 (R13G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1691518	NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)	PTCH1 (E53Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41768	NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)	PTCH1 (E44G)	Single nucleotide variant (5 prime UTR variant +1 more)	Holoprosencephaly 7 +3 more	GLikely benign
Select item 998196	NM_001083603.3(PTCH1):c.74del (p.Pro25fs)	PTCH1 (P25fs)	Deletion (5 prime UTR variant +1 more)	Holoprosencephaly 7 +2 more	GUncertain significance

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Items: 77