"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241008	NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)	ALMS1	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 221075	NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)	ALMS1	Microsatellite (inframe_deletion)	not provided +3 more	GBenign
Select item 193378	NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)	ALMS1 (E28del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 2420171	NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 210131	NM_001378454.1(ALMS1):c.77_85del (p.Glu26_Glu28del)	ALMS1	Deletion (inframe_deletion)	not specified	GLikely benign
Select item 705349	NM_001378454.1(ALMS1):c.279C>T (p.Pro93=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 241006	NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)	ALMS1 (E205A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 928813	NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)	ALMS1 (I217V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 241017	NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 459847	NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)	ALMS1 (T377S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 240983	NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)	ALMS1 (V424I +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GBenign/Likely benign
Select item 449942	NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)	ALMS1 (G485D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 198873	NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)	ALMS1 (I486V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GConflicting classifications of pathogenicity
Select item 210123	NM_001378454.1(ALMS1):c.1570_1572dup (p.Ser524dup)	ALMS1	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 210124	NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)	ALMS1 (P526del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 198876	NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)	ALMS1 (G614D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 210125	NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro)	ALMS1 (S624P +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GUncertain significance
Select item 423290	NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met)	ALMS1 (T660M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 210126	NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	ALMS1 (Y680C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 434137	NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr)	ALMS1 (A732T +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 240988	NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)	ALMS1 (E786G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GBenign/Likely benign
Select item 220883	NM_001378454.1(ALMS1):c.2730C>T (p.His910=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +3 more	GBenign/Likely benign
Select item 224801	NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)	ALMS1 (L941* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +2 more	GPathogenic
Select item 390302	NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)	ALMS1 (Y1098C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 387328	NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)	ALMS1 (G1105D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign/Likely benign
Select item 403935	NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)	ALMS1 (G1231E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 515470	NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 210127	NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)	ALMS1 (T1385fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome +1 more	GPathogenic
Select item 459867	NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)	ALMS1 (V1409I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 529369	NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)	ALMS1 (A1411P +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 240998	NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)	ALMS1 (G1468V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 240999	NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1097041	NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 403938	NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)	ALMS1 (R1630W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 241000	NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)	ALMS1 (T1664I +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 1337172	NM_001378454.1(ALMS1):c.5088A>C (p.Gly1696=)	ALMS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 210128	NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)	ALMS1 (T1750A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GBenign/Likely benign
Select item 1110884	NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1336066	NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala)	ALMS1 (V1970A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 210129	NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)	ALMS1 (R2146* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 235595	NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	ALMS1 (D2156G +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 434133	NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)	ALMS1 (S2190fs)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 1337449	NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile)	ALMS1 (N2210I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 241010	NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)	ALMS1 (D2252G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 235621	NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)	ALMS1 (N2424S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 2443148	NM_001378454.1(ALMS1):c.7331T>A (p.Leu2444Gln)	ALMS1 (L2444Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434129	NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser)	ALMS1 (N2521S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1336479	NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)	ALMS1 (T2713I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 210132	NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)	ALMS1 (T2819I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 391768	NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)	ALMS1 (L2883F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 511600	NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=)	ALMS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 656526	NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)	ALMS1 (R2928Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 434134	NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)	ALMS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434130	NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr)	ALMS1 (P3026T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 581363	NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)	ALMS1 (I3050V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 434131	NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)	ALMS1 (T3155S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 753224	NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)	ALMS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 506467	NM_001378454.1(ALMS1):c.10079-11C>T	ALMS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434132	NM_001378454.1(ALMS1):c.10462G>T (p.Val3488Leu)	ALMS1 (V3489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 210122	NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)	ALMS1 (Q3495* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +2 more	GPathogenic
Select item 235538	NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)	ALMS1 (Q3585L +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GBenign/Likely benign
Select item 434136	NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)	ALMS1 (R3629* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 390222	NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)	ALMS1 (R3632H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 403946	NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del)	ALMS1	Deletion (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 240978	NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 240979	NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)	ALMS1 (H3882Y +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 387921	NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)	ALMS1 (R3904Q +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 391448	NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)	ALMS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 194868	NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)	ALMS1 (G3942S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign
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 1338514	NM_001378454.1(ALMS1):c.12115-1G>T	ALMS1, LOC126806252	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 434135	NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln)	ALMS1, LOC126806252 (R4077Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 72