Related gene-specific medical variations for Gene (Select 7840) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 359

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3226581	NM_001378454.1(ALMS1):c.11898A>G (p.Glu3966=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3065046	NM_001378454.1(ALMS1):c.3367dup (p.Ile1123fs)	ALMS1 (I1123fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 3052466	NM_001378454.1(ALMS1):c.12030C>T (p.His4010=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	ALMS1-related condition	GLikely benign
Select item 3045262	NM_001378454.1(ALMS1):c.12158G>A (p.Gly4053Glu)	ALMS1, LOC126806252 (G4053E +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition	GUncertain significance
Select item 3036575	NM_001378454.1(ALMS1):c.12279G>A (p.Met4093Ile)	ALMS1, LOC126806252 (M4093I +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition	GLikely benign
Select item 3033226	NM_001378454.1(ALMS1):c.12192G>A (p.Gln4064=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	ALMS1-related condition	GLikely benign
Select item 3018074	NM_001378454.1(ALMS1):c.12217C>T (p.Gln4073Ter)	ALMS1, LOC126806252 (Q4074* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 3014054	NM_001378454.1(ALMS1):c.12225G>A (p.Glu4075=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2990245	NM_001378454.1(ALMS1):c.12020del (p.Gln4007fs)	ALMS1, LOC126806252 (Q4007fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2968454	NM_001378454.1(ALMS1):c.12187G>C (p.Val4063Leu)	ALMS1, LOC126806252 (V4063L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2916789	NM_001378454.1(ALMS1):c.12298+13del	ALMS1, LOC126806252	Deletion (intron variant)	Alstrom syndrome	GLikely benign
Select item 2909183	NM_001378454.1(ALMS1):c.12204G>A (p.Leu4068=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2904619	NM_001378454.1(ALMS1):c.12115-18C>T	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2897942	NM_001378454.1(ALMS1):c.12298+22del	ALMS1, LOC126806252	Deletion (intron variant)	Alstrom syndrome	GLikely benign
Select item 2893712	NM_001378454.1(ALMS1):c.12115-3T>A	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 2893711	NM_001378454.1(ALMS1):c.12115-17_12115-16insCTCTCTCTCTTTT	ALMS1, LOC126806252	Microsatellite (intron variant)	Alstrom syndrome	GLikely benign
Select item 2891244	NM_001378454.1(ALMS1):c.11901T>C (p.Asn3967=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2862899	NM_001378454.1(ALMS1):c.12115-5T>C	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2861926	NM_001378454.1(ALMS1):c.11887G>A (p.Val3963Ile)	ALMS1, LOC126806252 (V3963I +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2833216	NM_001378454.1(ALMS1):c.11976C>G (p.Thr3992=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2825917	NM_001378454.1(ALMS1):c.11889T>G (p.Val3963=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2818496	NM_001378454.1(ALMS1):c.12114+20del	ALMS1, LOC126806252	Deletion (intron variant)	Alstrom syndrome	GLikely benign
Select item 2808149	NM_001378454.1(ALMS1):c.12057C>T (p.Gly4019=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2784555	NM_001378454.1(ALMS1):c.12175del (p.Arg4058_Leu4059insTer)	ALMS1, LOC126806252	Deletion (nonsense)	Alstrom syndrome	GPathogenic
Select item 2783357	NM_001378454.1(ALMS1):c.12114+10C>G	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2780364	NM_001378454.1(ALMS1):c.12120G>C (p.Ser4040=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2757763	NM_001378454.1(ALMS1):c.12115-9T>C	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2739961	NM_001378454.1(ALMS1):c.12115-17T>A	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2734233	NM_001378454.1(ALMS1):c.12151dup (p.Arg4051fs)	ALMS1, LOC126806252 (R4052fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2734232	NM_001378454.1(ALMS1):c.11878dup (p.Ser3960fs)	ALMS1, LOC126806252 (S3960fs +1 more)	Duplication (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2731887	NM_001378454.1(ALMS1):c.12115-15T>C	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2725885	NM_001378454.1(ALMS1):c.12298+8C>T	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2713287	NM_001378454.1(ALMS1):c.12114+10C>T	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2710468	NM_001378454.1(ALMS1):c.12089_12090delinsAA (p.Arg4030Lys)	ALMS1, LOC126806252 (R4030K +1 more)	Indel (missense variant)	Alstrom syndrome	GLikely benign
Select item 2701008	NM_001378454.1(ALMS1):c.12045C>T (p.Gly4015=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2690886	NM_001378454.1(ALMS1):c.10967G>A (p.Gly3656Glu)	ALMS1 (G3656E +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2690509	NM_001378454.1(ALMS1):c.3712_3715del (p.Ser1238fs)	ALMS1 (S1238fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 2665061	NM_001378454.1(ALMS1):c.10384+1632G>A	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 2665027	NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)	ALMS1 (D989G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2665025	NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)	ALMS1 (S2425A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2663278	NM_001378454.1(ALMS1):c.12030C>G (p.His4010Gln)	ALMS1, LOC126806252 (H4010Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636501	NM_001378454.1(ALMS1):c.11933C>T (p.Pro3978Leu)	ALMS1, LOC126806252 (P3978L +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition	GUncertain significance
Select item 2634061	NM_001378454.1(ALMS1):c.12130C>T (p.His4044Tyr)	ALMS1, LOC126806252 (H4044Y +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition	GUncertain significance
Select item 2628727	NM_001378454.1(ALMS1):c.12187G>A (p.Val4063Ile)	ALMS1, LOC126806252 (V4063I +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition	GUncertain significance
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 2584629	NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)	ALMS1 (R3610G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
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 2502262	NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)	ALMS1 (D4168N +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2502250	NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)	ALMS1	Insertion (inframe_insertion)	Alstrom syndrome	GUncertain significance
Select item 2502212	NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)	ALMS1 (D148V +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2502211	NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)	ALMS1 (L2222P +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2502172	NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)	ALMS1 (N1787K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2502167	NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)	ALMS1 (S2606C +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2502151	NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)	ALMS1 (G2192D +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2498291	NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)	ALMS1 (P1459S +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GLikely pathogenic
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 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 2441852	NM_001378454.1(ALMS1):c.12400G>A (p.Glu4134Lys)	ALMS1 (E4134K +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2441140	NM_001378454.1(ALMS1):c.1150del (p.Arg384fs)	ALMS1 (R384fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GLikely pathogenic
Select item 2439000	NM_001378454.1(ALMS1):c.12038G>A (p.Gly4013Asp)	ALMS1, LOC126806252 (G4013D +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition +1 more	GUncertain significance
Select item 2438999	NM_001378454.1(ALMS1):c.9748_9749insCTC (p.Val3250delinsAlaLeu)	ALMS1	Insertion (inframe_indel)	Alstrom syndrome	GUncertain significance
Select item 2434986	NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)	ALMS1 (S1380fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2434983	NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)	ALMS1 (E3082fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2428635	NM_001378454.1(ALMS1):c.764+20T>G	ALMS1	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2199356	NM_001378454.1(ALMS1):c.12185T>C (p.Ile4062Thr)	ALMS1, LOC126806252 (I4062T +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2192330	NM_001378454.1(ALMS1):c.11873-13_11873-12delinsAC	ALMS1, LOC126806252	Indel (intron variant)	Alstrom syndrome	GUncertain significance
Select item 2182513	NM_001378454.1(ALMS1):c.12047A>G (p.Tyr4016Cys)	LOC126806252, ALMS1 (Y4016C +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2181771	NM_001378454.1(ALMS1):c.12194A>G (p.Glu4065Gly)	ALMS1, LOC126806252 (E4065G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2165395	NM_001378454.1(ALMS1):c.12115-4T>G	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2160888	NM_001378454.1(ALMS1):c.12276C>T (p.Arg4092=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 2154536	NM_001378454.1(ALMS1):c.12115-13T>A	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2151856	NM_001378454.1(ALMS1):c.12068A>G (p.Glu4023Gly)	ALMS1, LOC126806252 (E4023G +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	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 2145246	NM_001378454.1(ALMS1):c.12298+6C>A	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 2133716	NM_001378454.1(ALMS1):c.11971A>C (p.Ile3991Leu)	ALMS1, LOC126806252 (I3991L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2133588	NM_001378454.1(ALMS1):c.12040_12041del (p.Arg4014fs)	ALMS1, LOC126806252 (R4014fs +1 more)	Deletion (frameshift variant)	Alstrom syndrome	GPathogenic
Select item 2098076	NM_001378454.1(ALMS1):c.12298+3A>G	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GUncertain significance
Select item 2095558	NM_001378454.1(ALMS1):c.12022G>C (p.Gly4008Arg)	ALMS1, LOC126806252 (G4008R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2092674	NM_001378454.1(ALMS1):c.12114+14G>C	ALMS1, LOC126806252	Single nucleotide variant (intron variant)	Alstrom syndrome	GLikely benign
Select item 2065606	NM_001378454.1(ALMS1):c.11923G>A (p.Glu3975Lys)	ALMS1, LOC126806252 (E3975K +1 more)	Single nucleotide variant (missense variant)	ALMS1-related condition +1 more	GUncertain significance
Select item 2065541	NM_001378454.1(ALMS1):c.11890C>T (p.Pro3964Ser)	ALMS1, LOC126806252 (P3964S +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	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 2058106	NM_001378454.1(ALMS1):c.12108C>T (p.Thr4036=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2057117	NM_001378454.1(ALMS1):c.12159G>C (p.Gly4053=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GUncertain significance
Select item 2056061	NM_001378454.1(ALMS1):c.12051G>T (p.Leu4017=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2054720	NM_001378454.1(ALMS1):c.12115-13_12115-3del	ALMS1, LOC126806252	Deletion (intron variant)	Alstrom syndrome	GUncertain significance
Select item 2051962	NM_001378454.1(ALMS1):c.11970A>G (p.Pro3990=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2050064	NM_001378454.1(ALMS1):c.11980A>G (p.Thr3994Ala)	ALMS1, LOC126806252 (T3995A +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2034259	NM_001378454.1(ALMS1):c.12215T>A (p.Leu4072Ter)	ALMS1, LOC126806252 (L4072* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 2032806	NM_001378454.1(ALMS1):c.12259C>T (p.Gln4087Ter)	ALMS1, LOC126806252 (Q4088* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 2025738	NM_001378454.1(ALMS1):c.12111T>G (p.Leu4037=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 2007503	NM_001378454.1(ALMS1):c.12202C>A (p.Leu4068Met)	ALMS1, LOC126806252 (L4068M +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 2005984	NM_001378454.1(ALMS1):c.12199A>T (p.Lys4067Ter)	ALMS1, LOC126806252 (K4068* +1 more)	Single nucleotide variant (nonsense)	Alstrom syndrome	GPathogenic
Select item 1996040	NM_001378454.1(ALMS1):c.12264C>A (p.Gly4088=)	ALMS1, LOC126806252	Single nucleotide variant (synonymous variant)	Alstrom syndrome	GLikely benign
Select item 1987909	NM_001378454.1(ALMS1):c.12137C>G (p.Pro4046Arg)	ALMS1, LOC126806252 (P4046R +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1969186	NM_001378454.1(ALMS1):c.12173G>T (p.Arg4058Leu)	ALMS1, LOC126806252 (R4058L +1 more)	Single nucleotide variant (missense variant)	Alstrom syndrome	GUncertain significance
Select item 1955541	NM_001378454.1(ALMS1):c.12114+19_12114+23dup	ALMS1, LOC126806252	Duplication (intron variant)	Alstrom syndrome	GLikely benign

<< First< Prev

Page of 4