"Ambry Genetics"[submitter] AND "LOC126806252"[gene] - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064981	NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)	ALMS1, LOC126806252 (V3963A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 549920	NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)	ALMS1, LOC126806252 (V3966L +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 3226581	NM_001378454.1(ALMS1):c.11898A>G (p.Glu3966=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1744850	NM_001378454.1(ALMS1):c.11907G>A (p.Glu3969=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1089103	NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 1745385	NM_001378454.1(ALMS1):c.11933C>A (p.Pro3978His)	ALMS1, LOC126806252 (P3979H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 423689	NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)	ALMS1, LOC126806252 (T3981I +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1946480	NM_001378454.1(ALMS1):c.11948C>G (p.Pro3983Arg)	ALMS1, LOC126806252 (P3983R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1745753	NM_001378454.1(ALMS1):c.11952C>A (p.Gly3984=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 581362	NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)	ALMS1, LOC126806252 (I3986V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1092030	NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
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 1745975	NM_001378454.1(ALMS1):c.11963T>C (p.Phe3988Ser)	ALMS1, LOC126806252 (F3988S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2147124	NM_001378454.1(ALMS1):c.11971A>T (p.Ile3991Leu)	ALMS1, LOC126806252 (I3991L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 550839	NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val)	ALMS1, LOC126806252 (I3992V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 391899	NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)	LOC126806252, ALMS1 (R4003W +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 550734	NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln)	ALMS1, LOC126806252 (R4003Q +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 2481265	NM_001378454.1(ALMS1):c.12007G>A (p.Glu4003Lys)	ALMS1, LOC126806252 (E4003K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1560804	NM_001378454.1(ALMS1):c.12027G>A (p.Gln4009=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 701925	NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 553675	NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu)	ALMS1, LOC126806252 (D4013E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GUncertain significance
Select item 449959	NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)	LOC126806252, ALMS1 (G4014S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1404322	NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)	ALMS1, LOC126806252 (R4014W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2626194	NM_001378454.1(ALMS1):c.12041G>C (p.Arg4014Pro)	ALMS1, LOC126806252 (R4015P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748301	NM_001378454.1(ALMS1):c.12044G>T (p.Gly4015Val)	ALMS1, LOC126806252 (G4015V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 373262	NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp)	ALMS1, LOC126806252 (G4016D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GUncertain significance
Select item 1143185	NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 1748760	NM_001378454.1(ALMS1):c.12062G>A (p.Gly4021Asp)	ALMS1, LOC126806252 (G4022D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 +2 more	GUncertain significance
Select item 599297	NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)	ALMS1, LOC126806252 (R4027G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1557741	NM_001378454.1(ALMS1):c.12084A>G (p.Leu4028=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 656629	NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro)	ALMS1, LOC126806252 (L4030P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 383764	NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys)	ALMS1, LOC126806252 (R4031K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GBenign
Select item 3226583	NM_001378454.1(ALMS1):c.12092C>T (p.Pro4031Leu)	ALMS1, LOC126806252 (P4031L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1111812	NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2497334	NM_001378454.1(ALMS1):c.12097G>A (p.Val4033Met)	ALMS1, LOC126806252 (V4034M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1750218	NM_001378454.1(ALMS1):c.12101G>A (p.Arg4034Lys)	ALMS1, LOC126806252 (R4035K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750248	NM_001378454.1(ALMS1):c.12106A>G (p.Thr4036Ala)	ALMS1, LOC126806252 (T4036A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2061183	NM_001378454.1(ALMS1):c.12114+1G>A	ALMS1, LOC126806252	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 240980	NM_001378454.1(ALMS1):c.12114+4C>T	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 657042	NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu)	ALMS1, LOC126806252 (S4041L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GUncertain significance
Select item 510676	NM_001378454.1(ALMS1):c.12126G>A (p.Gln4042=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3226584	NM_001378454.1(ALMS1):c.12128T>G (p.Phe4043Cys)	ALMS1, LOC126806252 (F4043C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 556095	NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser)	ALMS1, LOC126806252 (P4047S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 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 1751079	NM_001378454.1(ALMS1):c.12145A>G (p.Ile4049Val)	ALMS1, LOC126806252 (I4049V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 513925	NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1751268	NM_001378454.1(ALMS1):c.12151C>A (p.Arg4051Ser)	ALMS1, LOC126806252 (R4051S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 642212	NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)	ALMS1, LOC126806252 (R4052C +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +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)	not provided +2 more	GUncertain significance
Select item 1751605	NM_001378454.1(ALMS1):c.12163C>G (p.Arg4055Gly)	ALMS1, LOC126806252 (R4055G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1085721	NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +2 more	GLikely benign
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)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1751874	NM_001378454.1(ALMS1):c.12175_12177delinsTTT (p.Leu4059Phe)	ALMS1, LOC126806252 (L4059F +1 more)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 383765	NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +3 more	GBenign
Select item 790413	NM_001378454.1(ALMS1):c.12177G>T (p.Leu4059=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 1752106	NM_001378454.1(ALMS1):c.12179A>G (p.Lys4060Arg)	ALMS1, LOC126806252 (K4060R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1752348	NM_001378454.1(ALMS1):c.12192G>T (p.Gln4064His)	ALMS1, LOC126806252 (Q4064H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 550031	NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1753074	NM_001378454.1(ALMS1):c.12214T>A (p.Leu4072Ile)	ALMS1, LOC126806252 (L4073I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 459852	NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +2 more	GLikely benign
Select item 1753352	NM_001378454.1(ALMS1):c.12223G>A (p.Glu4075Lys)	ALMS1, LOC126806252 (E4076K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 666651	NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1111151	NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 1753761	NM_001378454.1(ALMS1):c.12241A>G (p.Asn4081Asp)	ALMS1, LOC126806252 (N4081D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 390736	NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)	ALMS1, LOC126806252 (R4085M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 1754415	NM_001378454.1(ALMS1):c.12273T>G (p.Asn4091Lys)	ALMS1, LOC126806252 (N4091K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1366146	NM_001378454.1(ALMS1):c.12274C>T (p.Arg4092Cys)	ALMS1, LOC126806252 (R4093C +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)	Alstrom syndrome +2 more	GUncertain significance
Select item 3226585	NM_001378454.1(ALMS1):c.12278T>A (p.Met4093Lys)	ALMS1, LOC126806252 (M4093K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1127227	NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome +2 more	GLikely benign
Select item 552991	NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)	ALMS1, LOC126806252 (P4096L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 240982	NM_001378454.1(ALMS1):c.12285G>A (p.Pro4095=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2564341	NM_001378454.1(ALMS1):c.12295A>C (p.Arg4099=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 393381	NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly)	ALMS1, LOC126806252 (R4100G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 389757	NM_001378454.1(ALMS1):c.12298+5G>A	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

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Items: 83