C0268425[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033322	NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser)	ALMS1 (P90S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1033319	NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His)	ALMS1 (D389H +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1033320	NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu)	ALMS1 (V743L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 551445	NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)	ALMS1 (Q1086H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2441969	NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)	ALMS1 (K1244fs +1 more)	Microsatellite (frameshift variant)	Alstrom syndrome	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 871762	NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)	ALMS1 (S2101* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 640904	NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)	ALMS1 (S2431R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1033323	NM_001378454.1(ALMS1):c.8183A>T (p.Asn2728Ile)	ALMS1 (N2728I +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 241013	NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)	ALMS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1030466	NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val)	ALMS1 (I3153V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 1033324	NM_001378454.1(ALMS1):c.9700A>G (p.Asn3234Asp)	ALMS1 (N3234D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	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 550734	NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln)	ALMS1, LOC126806252 (R4003Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1030464	NM_001378454.1(ALMS1):c.12247G>C (p.Asp4083His)	ALMS1, LOC126806252 (D4083H +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2441852	NM_001378454.1(ALMS1):c.12400G>A (p.Glu4134Lys)	ALMS1 (E4134K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance