"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206378	NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome	GBenign
Select item 218713	NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)	ALMS1	Microsatellite (inframe_insertion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 193379	NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)	ALMS1	Microsatellite (inframe_insertion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 403930	NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del)	ALMS1	Microsatellite (inframe_deletion)	Alstrom syndrome +3 more	GBenign/Likely benign
Select item 241008	NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del)	ALMS1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 221075	NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del)	ALMS1	Microsatellite (inframe_deletion)	Alstrom syndrome +3 more	GBenign
Select item 193378	NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)	ALMS1 (E28del +1 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 970202	NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GLikely benign
Select item 221018	NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)	ALMS1 (P225H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 383767	NM_001378454.1(ALMS1):c.764+20T>A	ALMS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 241017	NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)	ALMS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 220880	NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)	ALMS1 (T383A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign
Select item 221014	NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +3 more	GBenign/Likely benign
Select item 240983	NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)	ALMS1 (V424I +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
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 221186	NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro)	ALMS1	Microsatellite (inframe_insertion)	Alstrom syndrome +2 more	GBenign
Select item 240984	NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)	ALMS1 (H625R +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GBenign
Select item 504918	NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly)	ALMS1 (V673G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 383768	NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)	ALMS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 240989	NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=)	ALMS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 240991	NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +3 more	GBenign
Select item 387347	NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)	ALMS1 (S1066P +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign/Likely benign
Select item 1284455	NM_001378454.1(ALMS1):c.3197_3200del (p.Asp1066fs)	ALMS1 (D1066fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 240994	NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=)	ALMS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 221015	NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)	ALMS1 (T1386R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign
Select item 529369	NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)	ALMS1 (A1411P +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GUncertain significance
Select item 240996	NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)	ALMS1 (L1444F +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 241001	NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)	ALMS1 (E1731G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220971	NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)	ALMS1 (N1788D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign/Likely benign
Select item 241002	NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)	ALMS1 (K1812N +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 866994	NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)	ALMS1 (R1819* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 221017	NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)	ALMS1 (I2004V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 383773	NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu)	ALMS1 (S2102L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign
Select item 337021	NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)	ALMS1 (Q2154R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 235595	NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	ALMS1 (D2156G +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 241009	NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)	ALMS1 (P2186S +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 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 provided +4 more	GBenign/Likely benign
Select item 373269	NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)	ALMS1 (A2608G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 221010	NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys)	ALMS1 (N2946K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign
Select item 374508	NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +3 more	GBenign/Likely benign
Select item 1195514	NM_001378454.1(ALMS1):c.10214-12dup	ALMS1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1285131	NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs)	ALMS1 (P3421fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 240972	NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)	ALMS1 (K3425N +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GBenign/Likely benign
Select item 221012	NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)	ALMS1 (K3436E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 240973	NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 235452	NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)	ALMS1 (S3686N +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GBenign
Select item 391518	NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=)	ALMS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 220878	NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)	ALMS1 (G3757S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +4 more	GBenign
Select item 1111445	NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +1 more	GLikely benign
Select item 240979	NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)	ALMS1 (H3882Y +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 391448	NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)	ALMS1	Single nucleotide variant (synonymous variant)	Alstrom syndrome +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)	Cardiovascular phenotype +4 more	GBenign
Select item 383770	NM_001378454.1(ALMS1):c.11873-12T>C	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 383764	NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys)	ALMS1, LOC126806252 (R4031K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign

ClinVar

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Items: 54