ClinVar for Gene (Select 2978) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103243	NM_001384910.1(GUCA1A):c.572A>T (p.Glu191Val)	GUCA1A, GUCA1ANB-GUCA1A (E191V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3010822	NM_001384910.1(GUCA1A):c.428delinsCACA (p.Ile143delinsThrHis)	GUCA1A, GUCA1ANB-GUCA1A	Indel (inframe_indel)	not provided	GLikely pathogenic
Select item 3010037	NM_001384910.1(GUCA1A):c.49G>A (p.Glu17Lys)	GUCA1A, GUCA1ANB-GUCA1A (E17K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000775	NM_001384910.1(GUCA1A):c.598G>A (p.Ala200Thr)	GUCA1A, GUCA1ANB-GUCA1A (A200T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999372	NM_001384910.1(GUCA1A):c.221T>A (p.Met74Lys)	GUCA1A, GUCA1ANB-GUCA1A (M74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992449	NM_001384910.1(GUCA1A):c.201+12C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984822	NM_001384910.1(GUCA1A):c.274C>T (p.Leu92Phe)	GUCA1A, GUCA1ANB-GUCA1A (L92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980832	NM_001384910.1(GUCA1A):c.446-4C>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958507	NM_001384910.1(GUCA1A):c.460del (p.Glu154fs)	GUCA1A, GUCA1ANB-GUCA1A (E154fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2957379	NM_001384910.1(GUCA1A):c.433G>A (p.Val145Ile)	GUCA1A, GUCA1ANB-GUCA1A (V145I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872679	NM_001384910.1(GUCA1A):c.64T>C (p.Tyr22His)	GUCA1A, GUCA1ANB-GUCA1A (Y22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859570	NM_001384910.1(GUCA1A):c.352-18C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828250	NM_001384910.1(GUCA1A):c.351+18A>G	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819950	NM_001384910.1(GUCA1A):c.155_156delinsGT (p.Ala52Gly)	GUCA1A, GUCA1ANB-GUCA1A (A52G)	Indel (missense variant)	not provided	GUncertain significance
Select item 2819932	NM_001384910.1(GUCA1A):c.438C>A (p.Asn146Lys)	GUCA1A, GUCA1ANB-GUCA1A (N146K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809599	NM_001384910.1(GUCA1A):c.352-8C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801434	NM_001384910.1(GUCA1A):c.582C>T (p.Asp194=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800580	NM_001384910.1(GUCA1A):c.482A>G (p.Gln161Arg)	GUCA1A, GUCA1ANB-GUCA1A (Q161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790365	NM_001384910.1(GUCA1A):c.568G>A (p.Glu190Lys)	GUCA1A, GUCA1ANB-GUCA1A (E190K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785198	NM_001384910.1(GUCA1A):c.446-1G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2777310	NM_001384910.1(GUCA1A):c.110A>T (p.Tyr37Phe)	GUCA1A, GUCA1ANB-GUCA1A (Y37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753173	NM_001384910.1(GUCA1A):c.155C>G (p.Ala52Gly)	GUCA1A, GUCA1ANB-GUCA1A (A52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745508	NM_001384910.1(GUCA1A):c.539T>A (p.Val180Glu)	GUCA1A, GUCA1ANB-GUCA1A (V180E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728108	NM_001384910.1(GUCA1A):c.601G>C (p.Gly201Arg)	GUCA1ANB-GUCA1A, GUCA1A (G201R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704032	NM_001384910.1(GUCA1A):c.351+15G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693649	NM_001384910.1(GUCA1A):c.495dup (p.Leu166fs)	GUCA1A, GUCA1ANB-GUCA1A (L166fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2577517	NM_001384910.1(GUCA1A):c.442G>C (p.Asp148His)	GUCA1A, GUCA1ANB-GUCA1A (D148H)	Single nucleotide variant (missense variant)	Cone-rod dystrophy	GLikely pathogenic
Select item 2573966	NM_001384910.1(GUCA1A):c.554del (p.Asn185fs)	GUCA1A, GUCA1ANB-GUCA1A (N185fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2423038	NC_000006.11:g.(?_42141352)_(42141572_?)del	GUCA1A	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2189452	NM_001384910.1(GUCA1A):c.240C>T (p.Leu80=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143543	NM_001384910.1(GUCA1A):c.429T>C (p.Ile143=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134078	NM_001384910.1(GUCA1A):c.520C>G (p.Leu174Val)	GUCA1A, GUCA1ANB-GUCA1A (L174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130198	NM_001384910.1(GUCA1A):c.351+13C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128726	NM_001384910.1(GUCA1A):c.20G>C (p.Gly7Ala)	GUCA1A, GUCA1ANB-GUCA1A (G7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128662	NM_001384910.1(GUCA1A):c.395C>T (p.Ala132Val)	GUCA1A, GUCA1ANB-GUCA1A (A132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122417	NM_001384910.1(GUCA1A):c.90del (p.Ser31fs)	GUCA1A, GUCA1ANB-GUCA1A (S31fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2115856	NM_001384910.1(GUCA1A):c.27A>C (p.Ser9=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112307	NM_001384910.1(GUCA1A):c.202-7C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077824	NM_001384910.1(GUCA1A):c.351+13C>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2058590	NM_001384910.1(GUCA1A):c.470T>C (p.Ile157Thr)	GUCA1A, GUCA1ANB-GUCA1A (I157T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055434	NM_001384910.1(GUCA1A):c.446-10T>C	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027963	NM_001384910.1(GUCA1A):c.256G>A (p.Gly86Arg)	GUCA1A, GUCA1ANB-GUCA1A (G86R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2027210	NM_001384910.1(GUCA1A):c.334C>T (p.Leu112=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021779	NM_001384910.1(GUCA1A):c.351+7A>G	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020089	NM_001384910.1(GUCA1A):c.298G>C (p.Asp100His)	GUCA1A, GUCA1ANB-GUCA1A (D100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016887	NM_001384910.1(GUCA1A):c.202-19G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004710	NM_001384910.1(GUCA1A):c.11T>C (p.Val4Ala)	GUCA1A, GUCA1ANB-GUCA1A (V4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004409	NM_001384910.1(GUCA1A):c.119G>C (p.Arg40Pro)	GUCA1A, GUCA1ANB-GUCA1A (R40P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002094	NM_001384910.1(GUCA1A):c.438C>G (p.Asn146Lys)	GUCA1A, GUCA1ANB-GUCA1A (N146K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001440	NM_001384910.1(GUCA1A):c.201+16G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996045	NM_001384910.1(GUCA1A):c.231G>A (p.Val77=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1993175	NM_001384910.1(GUCA1A):c.245T>C (p.Leu82Ser)	GUCA1A, GUCA1ANB-GUCA1A (L82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985230	NM_001384910.1(GUCA1A):c.228C>T (p.Tyr76=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977312	NM_001384910.1(GUCA1A):c.86G>A (p.Cys29Tyr)	GUCA1A, GUCA1ANB-GUCA1A (C29Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972185	NM_001384910.1(GUCA1A):c.126C>T (p.Phe42=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962448	NM_001384910.1(GUCA1A):c.166G>T (p.Val56Leu)	GUCA1A, GUCA1ANB-GUCA1A (V56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958755	NM_001384910.1(GUCA1A):c.153G>A (p.Ser51=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958143	NM_001384910.1(GUCA1A):c.236del (p.Ala79fs)	GUCA1A, GUCA1ANB-GUCA1A (A79fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1952071	NM_001384910.1(GUCA1A):c.195C>T (p.Phe65=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943840	NM_001384910.1(GUCA1A):c.85T>C (p.Cys29Arg)	GUCA1A, GUCA1ANB-GUCA1A (C29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943069	NM_001384910.1(GUCA1A):c.572_586dup (p.Glu195_Ala196insGluGlyAlaAspGlu)	GUCA1A, GUCA1ANB-GUCA1A	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1938201	NM_001384910.1(GUCA1A):c.441G>A (p.Gly147=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931154	NM_001384910.1(GUCA1A):c.351+13C>G	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808459	GRCh37/hg19 6p21.1(chr6:42043510-42274148)x3	C6orf132, GUCA1A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1802229	NM_001384910.1(GUCA1A):c.184A>C (p.Thr62Pro)	GUCA1ANB-GUCA1A, GUCA1A (T62P)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 1801988	NM_001384910.1(GUCA1A):c.335T>A (p.Leu112Gln)	GUCA1A, LOC118142757 (L112Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715814	NM_001384910.1(GUCA1A):c.535A>G (p.Ile179Val)	GUCA1A, GUCA1ANB-GUCA1A (I179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713877	NM_001384910.1(GUCA1A):c.532C>T (p.Arg178Cys)	GUCA1A, GUCA1ANB-GUCA1A (R178C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699437	NM_001384910.1(GUCA1A):c.123G>C (p.Gln41His)	GUCA1A, GUCA1ANB-GUCA1A (Q41H)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 1674850	NM_001384910.1(GUCA1A):c.202-15G>C	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1662676	NM_001384910.1(GUCA1A):c.237G>C (p.Ala79=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659037	NM_001384910.1(GUCA1A):c.445+11C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654421	NM_001384910.1(GUCA1A):c.124T>A (p.Phe42Ile)	GUCA1A, GUCA1ANB-GUCA1A (F42I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1642111	NM_001384910.1(GUCA1A):c.201+20C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627619	NM_001384910.1(GUCA1A):c.6C>T (p.Gly2=)	GUCA1ANB-GUCA1A, GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616618	NM_001384910.1(GUCA1A):c.445+20G>C	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589653	NM_001384910.1(GUCA1A):c.165C>T (p.Tyr55=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573008	NM_001384910.1(GUCA1A):c.384C>A (p.Thr128=)	GUCA1ANB-GUCA1A, GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558503	NM_001384910.1(GUCA1A):c.445+16A>G	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551392	NM_001384910.1(GUCA1A):c.202-9C>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551271	NM_001384910.1(GUCA1A):c.445+9G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535593	NM_001384910.1(GUCA1A):c.396A>C (p.Ala132=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1529583	NM_001384910.1(GUCA1A):c.446-17C>G	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527235	GRCh37/hg19 6p21.1(chr6:42063625-42274165)	GUCA1A, GUCA1B +3 more	Copy number gain	not specified	GUncertain significance
Select item 1515266	NM_001384910.1(GUCA1A):c.601G>A (p.Gly201Ser)	GUCA1A, GUCA1ANB-GUCA1A (G201S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515072	NM_001384910.1(GUCA1A):c.493A>T (p.Met165Leu)	GUCA1A, GUCA1ANB-GUCA1A (M165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510309	NM_001384910.1(GUCA1A):c.490C>T (p.Gln164Ter)	GUCA1A, GUCA1ANB-GUCA1A (Q164*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1505461	NM_001384910.1(GUCA1A):c.236C>A (p.Ala79Glu)	GUCA1A, GUCA1ANB-GUCA1A (A79E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1500269	NM_001384910.1(GUCA1A):c.201+5G>T	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1495642	NM_001384910.1(GUCA1A):c.201+3G>C	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1495068	NM_001384910.1(GUCA1A):c.369C>A (p.Asn123Lys)	GUCA1A, GUCA1ANB-GUCA1A (N123K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494647	NM_001384910.1(GUCA1A):c.9C>G (p.Asn3Lys)	GUCA1A, GUCA1ANB-GUCA1A (N3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487819	NM_001384910.1(GUCA1A):c.515G>C (p.Arg172Pro)	GUCA1A, GUCA1ANB-GUCA1A (R172P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484862	NM_001384910.1(GUCA1A):c.235G>T (p.Ala79Ser)	GUCA1A, GUCA1ANB-GUCA1A (A79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484833	NM_001384910.1(GUCA1A):c.445+5G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1483597	NM_001384910.1(GUCA1A):c.509dup (p.Thr171fs)	GUCA1A, GUCA1ANB-GUCA1A (T171fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1483334	NM_001384910.1(GUCA1A):c.524A>C (p.Asp175Ala)	GUCA1ANB-GUCA1A, GUCA1A (D175A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477180	NM_001384910.1(GUCA1A):c.238C>T (p.Leu80Phe)	GUCA1A, GUCA1ANB-GUCA1A (L80F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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