"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1676370	NM_001378454.1(ALMS1):c.36GGA[7] (p.Glu23_Glu28del)	ALMS1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3249405	NM_001378454.1(ALMS1):c.49_50insTGG (p.Glu16_Glu17insVal)	ALMS1	Insertion (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 554376	NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys)	ALMS1 (E20K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 945027	NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)	ALMS1 (K108R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 403928	NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala)	ALMS1 (P112A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 432725	NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)	ALMS1 (V117I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3249440	NM_001378454.1(ALMS1):c.509_510del (p.Thr170fs)	ALMS1 (T170fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 240983	NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)	ALMS1 (V424I +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 3249627	NM_001378454.1(ALMS1):c.1422T>G (p.His474Gln)	ALMS1 (H474Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248730	NM_001378454.1(ALMS1):c.1511C>G (p.Ser504Ter)	ALMS1 (S504* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 403950	NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)	ALMS1 (L538V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1299316	NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)	ALMS1 (Q634* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3249447	NM_001378454.1(ALMS1):c.1987A>G (p.Thr663Ala)	ALMS1 (T663A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 552419	NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val)	ALMS1 (L713V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3249613	NM_001378454.1(ALMS1):c.2927_2930dup (p.Ser978fs)	ALMS1 (S978fs +1 more)	Microsatellite (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249526	NM_001378454.1(ALMS1):c.3221_3222del (p.Leu1074fs)	ALMS1 (L1074fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 529375	NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)	ALMS1 (T1139A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3250134	NM_001378454.1(ALMS1):c.3761C>G (p.Pro1254Arg)	ALMS1 (P1254R +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 1333038	NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)	ALMS1 (E1356D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3249451	NM_001378454.1(ALMS1):c.4139C>G (p.Ser1380Cys)	ALMS1 (S1380C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 210127	NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)	ALMS1 (T1385fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 240995	NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)	ALMS1 (T1403A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 550230	NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)	ALMS1 (R1418W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 432727	NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)	ALMS1 (V1742L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1465701	NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala)	ALMS1 (S1992A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 393374	NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)	ALMS1 (K1998R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1434394	NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg)	ALMS1 (K2073R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 666792	NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr)	ALMS1 (A2176T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3248941	NM_001378454.1(ALMS1):c.6976dup (p.Ser2326fs)	ALMS1 (S2326fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 553138	NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del)	ALMS1 (S2774del +1 more)	Microsatellite (inframe_deletion)	Alstrom syndrome	GUncertain significance
Select item 459892	NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val)	ALMS1 (F2807V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3249425	NM_001378454.1(ALMS1):c.8509C>G (p.Gln2837Glu)	ALMS1 (Q2837E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1175346	NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs)	ALMS1 (E2867fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 977952	NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)	ALMS1 (R2927* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome +2 more	GPathogenic
Select item 555655	NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del)	ALMS1 (P3039del +1 more)	Microsatellite (inframe_deletion)	Alstrom syndrome	GUncertain significance
Select item 581363	NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)	ALMS1 (I3050V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2080503	NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)	ALMS1 (I3309V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1420149	NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly)	ALMS1 (D3323G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 3249439	NM_001378454.1(ALMS1):c.10264G>T (p.Glu3422Ter)	ALMS1 (E3422* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 210122	NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)	ALMS1 (Q3495* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 403951	NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg)	ALMS1 (Q3612R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +1 more	GUncertain significance
Select item 1014983	NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly)	ALMS1 (D3619G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 434136	NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)	ALMS1 (R3629* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 280474	NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)	ALMS1 (S3736* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 2187903	NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)	ALMS1 (R3738P +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 390504	NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)	ALMS1 (R3805T +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome +2 more	GConflicting classifications of pathogenicity
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 659481	NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)	ALMS1 (G3898S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 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 1311329	NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)	ALMS1, LOC126806252 (R4092H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3248876	NM_001378454.1:c.(12298+1_12299-1)_(12362+1_12363-1)del	ALMS1	Deletion	Retinal dystrophy	GLikely pathogenic

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Items: 52