GNA11[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 356

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 155019	GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3	CELF5, GNA11 +50 more	Copy number gain	See cases	GUncertain significance
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 150989	GRCh38/hg38 19p13.3(chr19:3020573-3482611)x3	CELF5, GNA11 +46 more	Copy number gain	See cases	GUncertain significance
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 1264133	NC_000019.10:g.3094217C>G	GNA11	Single nucleotide variant	not provided	GBenign
Select item 1229520	NM_002067.5(GNA11):c.-123G>A	GNA11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1211124	NM_002067.5(GNA11):c.-43_-4del	GNA11	Deletion (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 2886578	NM_002067.5(GNA11):c.6T>C (p.Thr2=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172446	NM_002067.5(GNA11):c.9G>T (p.Leu3=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127968	NM_002067.5(GNA11):c.16A>G (p.Met6Val)	GNA11 (M6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362827	NM_002067.5(GNA11):c.23C>T (p.Ala8Val)	GNA11 (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983741	NM_002067.5(GNA11):c.27T>C (p.Cys9=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905132	NM_002067.5(GNA11):c.40G>A (p.Glu14Lys)	GNA11 (E14K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281739	NM_002067.5(GNA11):c.43G>C (p.Val15Leu)	GNA11 (V15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084260	NM_002067.5(GNA11):c.49G>T (p.Glu17Ter)	GNA11 (E17*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2893854	NM_002067.5(GNA11):c.54C>T (p.Ser18=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630412	NM_002067.5(GNA11):c.63C>T (p.Ile21=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621089	NM_002067.5(GNA11):c.69C>G (p.Ala23=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579776	NM_002067.5(GNA11):c.71A>T (p.Glu24Val)	GNA11 (E24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812723	NM_002067.5(GNA11):c.76G>A (p.Glu26Lys)	GNA11 (E26K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016986	NM_002067.5(GNA11):c.88C>T (p.Arg30Trp)	GNA11 (R30W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172117	NM_002067.5(GNA11):c.93G>A (p.Arg31=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 695113	NM_002067.5(GNA11):c.95A>G (p.Asp32Gly)	GNA11 (D32G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 2	GUncertain significance
Select item 792190	NM_002067.5(GNA11):c.114C>G (p.Arg38=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035000	NM_002067.5(GNA11):c.117G>A (p.Glu39=)	GNA11	Single nucleotide variant (synonymous variant)	GNA11-related disorder	GLikely benign
Select item 2173204	NM_002067.5(GNA11):c.126G>A (p.Leu42=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013553	NM_002067.5(GNA11):c.130C>T (p.Leu44=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964572	NM_002067.5(GNA11):c.136+12_136+17dup	GNA11	Duplication (intron variant)	not provided	GLikely benign
Select item 1618363	NM_002067.5(GNA11):c.136+20C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692031	NM_002067.5(GNA11):c.136+39C>T	GNA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1232179	NM_002067.5(GNA11):c.136+138C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248252	NM_002067.5(GNA11):c.137-49G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1697826	NM_002067.5(GNA11):c.137-41G>T	GNA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697827	NM_002067.5(GNA11):c.137-40G>T	GNA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697828	NM_002067.5(GNA11):c.137-39C>T	GNA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2785331	NM_002067.5(GNA11):c.137-20T>C	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000625	NM_002067.5(GNA11):c.137-16G>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558201	NM_002067.5(GNA11):c.137-16G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902615	NM_002067.5(GNA11):c.137-12C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220433	NM_002067.5(GNA11):c.137-9G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 792365	NM_002067.5(GNA11):c.137-6C>T	GNA11	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 998994	NM_002067.5(GNA11):c.137-5C>G	GNA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1041640	NM_002067.5(GNA11):c.138C>T (p.Gly46=)	GNA11	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 781376	NM_002067.5(GNA11):c.141G>A (p.Thr47=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2692032	NM_002067.5(GNA11):c.145G>A (p.Glu49Lys)	GNA11 (E49K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 937133	NM_002067.5(GNA11):c.149G>A (p.Ser50Asn)	GNA11 (S50N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565703	NM_002067.5(GNA11):c.150C>T (p.Ser50=)	GNA11	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 942593	NM_002067.5(GNA11):c.151G>A (p.Gly51Arg)	GNA11 (G51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285379	NM_002067.5(GNA11):c.161C>T (p.Thr54Met)	GNA11 (T54M)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 2	GPathogenic
Select item 744187	NM_002067.5(GNA11):c.162G>A (p.Thr54=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499267	NM_002067.5(GNA11):c.175A>T (p.Met59Leu)	GNA11 (M59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186163	NM_002067.5(GNA11):c.177G>A (p.Met59Ile)	GNA11 (M59I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60665	NM_002067.5(GNA11):c.178C>T (p.Arg60Cys)	GNA11 (R60C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 155926	NM_002067.5(GNA11):c.179G>T (p.Arg60Leu)	GNA11 (R60L)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 2	GPathogenic
Select item 258545	NM_002067.5(GNA11):c.189C>T (p.His63=)	GNA11	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1536382	NM_002067.5(GNA11):c.192C>T (p.Gly64=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134472	NM_002067.5(GNA11):c.193G>A (p.Ala65Thr)	GNA11 (A65T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 758140	NM_002067.5(GNA11):c.195C>T (p.Ala65=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185503	NM_002067.5(GNA11):c.203C>T (p.Ser68Leu)	GNA11 (S68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669538	NM_002067.5(GNA11):c.204G>A (p.Ser68=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398731	NM_002067.5(GNA11):c.217C>T (p.Arg73Cys)	GNA11 (R73C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933491	NM_002067.5(GNA11):c.230A>G (p.Lys77Arg)	GNA11 (K77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734138	NM_002067.5(GNA11):c.234C>T (p.Leu78=)	GNA11	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1498195	NM_002067.5(GNA11):c.235G>A (p.Val79Ile)	GNA11 (V79I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347585	NM_002067.5(GNA11):c.239dup (p.Tyr80Ter)	GNA11 (Y80*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1166476	NM_002067.5(GNA11):c.240C>T (p.Tyr80=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2893300	NM_002067.5(GNA11):c.242A>G (p.Gln81Arg)	GNA11 (Q81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961118	NM_002067.5(GNA11):c.248T>C (p.Ile83Thr)	GNA11 (I83T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596006	NM_002067.5(GNA11):c.255C>T (p.Thr85=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601976	NM_002067.5(GNA11):c.264G>A (p.Gln88=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1712146	NM_002067.5(GNA11):c.270G>T (p.Met90Ile)	GNA11 (M90I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378442	NM_002067.5(GNA11):c.274C>T (p.Arg92Trp)	GNA11 (R92W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 962298	NM_002067.5(GNA11):c.287C>T (p.Thr96Met)	GNA11 (T96M)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 2 +2 more	GUncertain significance
Select item 1587230	NM_002067.5(GNA11):c.288G>A (p.Thr96=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1593809	NM_002067.5(GNA11):c.291C>G (p.Leu97=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180828	NM_002067.5(GNA11):c.300C>T (p.Leu100=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755825	NM_002067.5(GNA11):c.305A>G (p.Lys102Arg)	GNA11 (K102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1129157	NM_002067.5(GNA11):c.309C>T (p.Tyr103=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151281	NM_002067.5(GNA11):c.321+8C>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1662559	NM_002067.5(GNA11):c.321+8C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567663	NM_002067.5(GNA11):c.321+9G>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708703	NM_002067.5(GNA11):c.321+9G>A	GNA11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2172631	NM_002067.5(GNA11):c.321+10C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928690	NM_002067.5(GNA11):c.321+11G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2425270	NM_002067.5(GNA11):c.321+13G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428049	NM_002067.5(GNA11):c.321+15G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937969	NM_002067.5(GNA11):c.321+17_321+18delinsTG	GNA11	Indel (intron variant)	not provided	GUncertain significance
Select item 2999828	NM_002067.5(GNA11):c.321+18T>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258546	NM_002067.5(GNA11):c.321+18T>G	GNA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2902314	NM_002067.5(GNA11):c.321+19G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275422	NM_002067.5(GNA11):c.321+30C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193444	NM_002067.5(GNA11):c.321+91G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266674	NM_002067.5(GNA11):c.321+156A>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271321	NM_002067.5(GNA11):c.321+184A>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 4