C4551481[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319597	NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)	SALL1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 288122	NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)	SALL1 (G1265E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 932004	NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)	SALL1 (I1166V +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1	GUncertain significance
Select item 1306570	NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg)	SALL1 (P1164R +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GUncertain significance
Select item 379407	NM_002968.3(SALL1):c.3771C>T (p.Asn1257=)	SALL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1265603	NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +2 more	GBenign/Likely benign
Select item 1431472	NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser)	SALL1 (N1146S +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GUncertain significance
Select item 1309305	NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe)	SALL1 (V1114F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 418466	NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)	SALL1 (C1042fs +1 more)	Deletion (frameshift variant)	Townes syndrome +2 more	GPathogenic
Select item 1194386	NM_002968.3(SALL1):c.3330T>C (p.Ser1110=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 689599	NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile)	SALL1 (V1011I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1281498	NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)	SALL1 (P1007A +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GBenign/Likely benign
Select item 1536649	NM_002968.3(SALL1):c.3231C>T (p.Pro1077=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +1 more	GLikely benign
Select item 319604	NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 498506	NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)	SALL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 195190	NM_002968.3(SALL1):c.3120A>G (p.Thr1040=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +3 more	GBenign/Likely benign
Select item 1006535	NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val)	SALL1 (I1030V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GUncertain significance
Select item 702728	NM_002968.3(SALL1):c.3084A>G (p.Pro1028=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1422600	NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser)	SALL1 (L889S +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder +3 more	GUncertain significance
Select item 1415731	NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln)	SALL1 (E886Q +1 more)	Single nucleotide variant (missense variant)	SALL1-related disorder +2 more	GUncertain significance
Select item 1328823	NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe)	SALL1 (I883F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1514998	NM_002968.3(SALL1):c.2852C>T (p.Ala951Val)	SALL1 (A951V +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GUncertain significance
Select item 1582633	NM_002968.3(SALL1):c.2565T>G (p.Pro855=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1266977	NM_002968.3(SALL1):c.2331C>T (p.Asn777=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +2 more	GBenign/Likely benign
Select item 195189	NM_002968.3(SALL1):c.2283G>C (p.Pro761=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 499155	NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser)	SALL1 (P760S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1214791	NM_002968.3(SALL1):c.2259C>T (p.Tyr753=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1628766	NM_002968.3(SALL1):c.1953C>T (p.Pro651=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +1 more	GLikely benign
Select item 1270493	NM_002968.3(SALL1):c.1565C>T (p.Thr522Met)	SALL1 (T425M +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +2 more	GBenign/Likely benign
Select item 289298	NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu)	SALL1 (D443E +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +1 more	GUncertain significance
Select item 1462614	NM_002968.3(SALL1):c.1227C>T (p.Ile409=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 1223813	NM_002968.3(SALL1):c.1207C>T (p.Pro403Ser)	SALL1 (P306S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7429	NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter)	SALL1 (S372* +1 more)	Single nucleotide variant (nonsense)	Townes-Brocks syndrome 1	GPathogenic
Select item 1307259	NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu)	SALL1 (P242L +1 more)	Single nucleotide variant (missense variant)	Townes-Brocks syndrome 1 +2 more	GUncertain significance
Select item 7428	NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	SALL1 (R276* +1 more)	Single nucleotide variant (nonsense)	Townes syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1626340	NM_002968.3(SALL1):c.618G>A (p.Ala206=)	SALL1	Single nucleotide variant (synonymous variant)	Townes-Brocks syndrome 1 +1 more	GLikely benign
Select item 633693	NM_002968.3(SALL1):c.602A>G (p.Gln201Arg)	SALL1 (Q201R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 654753	NM_002968.3(SALL1):c.548C>A (p.Thr183Lys)	SALL1 (T183K +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 319614	NM_002968.3(SALL1):c.537C>T (p.Leu179=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 290062	NM_002968.3(SALL1):c.484G>A (p.Gly162Ser)	SALL1 (G162S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 702302	NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)	SALL1	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 258874	NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)	SALL1	Microsatellite (inframe_insertion)	not provided +3 more	GBenign/Likely benign
Select item 862986	NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)	SALL1 (G41S +1 more)	Single nucleotide variant (missense variant)	Townes syndrome +2 more	GConflicting classifications of pathogenicity
Select item 516605	NM_002968.3(SALL1):c.387C>T (p.Ala129=)	SALL1	Single nucleotide variant (synonymous variant)	Townes syndrome +3 more	GLikely benign
Select item 499461	NM_002968.3(SALL1):c.361A>G (p.Arg121Gly)	SALL1 (R121G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 319617	NM_002968.3(SALL1):c.351C>T (p.Asn117=)	SALL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 528883	NM_002968.3(SALL1):c.264C>T (p.Ser88=)	SALL1	Single nucleotide variant (5 prime UTR variant +1 more)	Townes syndrome +2 more	GBenign/Likely benign
Select item 1282736	NM_002968.3(SALL1):c.219C>T (p.Ile73=)	SALL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign

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Items: 48