"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806252"[gen - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064981	NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)	LOC126806252, ALMS1 (V3963A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 550493	NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)	ALMS1, LOC126806252 (E3967V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1089103	NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 552640	NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met)	ALMS1, LOC126806252 (V3978M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 423689	NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)	LOC126806252, ALMS1 (T3981I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 581362	NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	ALMS1, LOC126806252 (I3986V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 991354	NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg)	ALMS1, LOC126806252 (W3987R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1435595	NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala)	ALMS1, LOC126806252 (P3990A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 552781	NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser)	ALMS1, LOC126806252 (R3999S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 391899	NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)	ALMS1, LOC126806252 (R4003W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 701925	NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 449959	NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)	LOC126806252, ALMS1 (G4014S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1404322	NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)	LOC126806252, ALMS1 (R4014W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1355440	NM_001378454.1(ALMS1):c.12041G>A (p.Arg4014Gln)	ALMS1, LOC126806252 (R4014Q +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 964985	NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)	ALMS1, LOC126806252 (G4026D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 552078	NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del)	ALMS1, LOC126806252	Deletion (inframe_deletion)	Alstrom syndrome	GUncertain significance
Select item 391548	NM_001378454.1(ALMS1):c.12113A>G (p.Gln4038Arg)	ALMS1, LOC126806252 (Q4039R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1650967	NM_001378454.1(ALMS1):c.12115-8dup	ALMS1, LOC126806252	Duplication (intron variant)	Alstrom syndrome	GBenign/Likely benign
Select item 571935	NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp)	LOC126806252, ALMS1 (E4040D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 657042	NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu)	ALMS1, LOC126806252 (S4041L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 864538	NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)	ALMS1, LOC126806252 (P4047H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 642212	NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)	LOC126806252, ALMS1 (R4052C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 965931	NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)	ALMS1, LOC126806252 (R4052H +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GUncertain significance
Select item 459850	NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)	ALMS1, LOC126806252 (R4056Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 459851	NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His)	ALMS1, LOC126806252 (R4059H +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 551701	NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 1144289	NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 459852	NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1099710	NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 390736	NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)	ALMS1, LOC126806252 (R4085M +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GUncertain significance
Select item 1385749	NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln)	ALMS1, LOC126806252 (R4087Q +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1311329	NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)	ALMS1, LOC126806252 (R4092H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 32