ipomoea landau - ClinVar - NCBI

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The following term was not found in ClinVar: ipomoea.
Showing results for Ipomoea blanda. Your search for Ipomoea blanda retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4385	NM_057176.3(BSND):c.28G>A (p.Gly10Ser)	BSND (G10S)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic
Select item 522700	NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly)	ITSN2 (D1376G +3 more)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 184389	NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)	MSH6 (R1334W +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 223171	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	VHL (W88C)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely pathogenic FDA Recognized database
Select item 411979	NM_000551.4(VHL):c.422dup (p.Asn141fs)	LOC107303340, VHL (N141fs)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 2925347	NM_000551.4(VHL):c.493del (p.Val165fs)	LOC107303340, VHL (V165fs +1 more)	Deletion (frameshift variant +2 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 428794	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	LOC107303340, VHL (Q195* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 1242979	NM_006345.4(SLC30A9):c.9C>G (p.Pro3=)	SLC30A9	Single nucleotide variant (synonymous variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more	GBenign
Select item 1300159	NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	SLC30A9 (S14fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1300169	NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs)	SLC30A9 (C30fs)	Duplication (frameshift variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1333130	NM_006345.4(SLC30A9):c.148A>G (p.Met50Val)	SLC30A9 (M50V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1333131	NM_006345.4(SLC30A9):c.274+38C>G	SLC30A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1333132	NM_006345.4(SLC30A9):c.289A>G (p.Thr97Ala)	SLC30A9 (T97A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1333133	NM_006345.4(SLC30A9):c.366C>A (p.Gly122=)	SLC30A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1333134	NM_006345.4(SLC30A9):c.527+35A>G	SLC30A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1723220	NM_006345.4(SLC30A9):c.543G>A (p.Trp181Ter)	SLC30A9 (W181*)	Single nucleotide variant (nonsense)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1333196	NM_006345.4(SLC30A9):c.840+1G>A	SLC30A9	Single nucleotide variant (splice donor variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GLikely pathogenic
Select item 1878602	NM_006345.4(SLC30A9):c.947G>A (p.Gly316Asp)	SLC30A9 (G316D)	Single nucleotide variant (missense variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GUncertain significance
Select item 431049	NM_006345.4(SLC30A9):c.1049_1051del (p.Ala350del)	SLC30A9 (A350del)	Deletion (inframe_deletion)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GPathogenic
Select item 3061863	NM_006345.4(SLC30A9):c.1145-8A>G	SLC30A9	Single nucleotide variant (intron variant)	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	GUncertain significance
Select item 872350	NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)	HSD17B4 (R111Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 632857	NM_000414.4(HSD17B4):c.868+1del	HSD17B4	Deletion (splice donor variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 17744	NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile)	ADRB2 (T164I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3341478	NM_021224.6(ZNF462):c.3287_3306del (p.Met1096fs)	ZNF462 (M1096fs)	Deletion (frameshift variant +1 more)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 195664	NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)	SPTAN1 (R1045W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +3 more	GConflicting classifications of pathogenicity
Select item 430406	NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)	ATM, C11orf65 (R2832L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 418049	NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys)	ATM, C11orf65 (Y2954C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 375537	NM_000834.5(GRIN2B):c.4315C>G (p.Pro1439Ala)	GRIN2B (P1439A)	Single nucleotide variant (missense variant)	Landau-Kleffner syndrome +1 more	GUncertain significance
Select item 956577	NM_002907.4(RECQL):c.245T>C (p.Ile82Thr)	RECQL (I82T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1696577	Single allele	GRIN2A, LOC130058418	Deletion	Landau-Kleffner syndrome	GLikely pathogenic
Select item 321458	NM_001134407.3(GRIN2A):c.*9692A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321459	NM_001134407.3(GRIN2A):c.*9632T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321460	NM_001134407.3(GRIN2A):c.*9517T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 884937	NM_001134407.3(GRIN2A):c.*9481T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 884938	NM_001134407.3(GRIN2A):c.*9392T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321461	NM_001134407.3(GRIN2A):c.*9325G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321462	NM_001134407.3(GRIN2A):c.*9278C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 885859	NM_001134407.3(GRIN2A):c.*9255C>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321463	NM_001134407.3(GRIN2A):c.*9207G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321464	NM_001134407.3(GRIN2A):c.*8978G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321465	NM_001134407.3(GRIN2A):c.*8781G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321466	NM_001134407.3(GRIN2A):c.*8753T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885860	NM_001134407.3(GRIN2A):c.*8714T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321467	NM_001134407.3(GRIN2A):c.*8626G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321468	NM_001134407.3(GRIN2A):c.*8609C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321469	NM_001134407.3(GRIN2A):c.*8542T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321470	NM_001134407.3(GRIN2A):c.8536_8537insC	GRIN2A	Insertion (3 prime UTR variant)	Landau-Kleffner syndrome	GLikely benign
Select item 321471	NM_001134407.3(GRIN2A):c.*8535A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321472	NM_001134407.3(GRIN2A):c.*8398G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 321473	NM_001134407.3(GRIN2A):c.*8396T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GBenign
Select item 321474	NM_001134407.3(GRIN2A):c.*8359T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321475	NM_001134407.3(GRIN2A):c.*8156A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321476	NM_001134407.3(GRIN2A):c.*8077T>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 888125	NM_001134407.3(GRIN2A):c.*8051A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321477	NM_001134407.3(GRIN2A):c.*7982A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 888126	NM_001134407.3(GRIN2A):c.*7906A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321478	NM_001134407.3(GRIN2A):c.*7898A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321479	NM_001134407.3(GRIN2A):c.*7897C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321480	NM_001134407.3(GRIN2A):c.*7775C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321481	NM_001134407.3(GRIN2A):c.7650_7654del	GRIN2A	Deletion (3 prime UTR variant)	Landau-Kleffner syndrome	GLikely benign
Select item 321482	NM_001134407.3(GRIN2A):c.*7483C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 885003	NM_001134407.3(GRIN2A):c.*7425T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321483	NM_001134407.3(GRIN2A):c.*7379A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321484	NM_001134407.3(GRIN2A):c.*7349C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885004	NM_001134407.3(GRIN2A):c.*7326C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885005	NM_001134407.3(GRIN2A):c.*7324G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321485	NM_001134407.3(GRIN2A):c.*7324G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321486	NM_001134407.3(GRIN2A):c.*7293del	GRIN2A	Deletion (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321487	NM_001134407.3(GRIN2A):c.*7289T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321488	NM_001134407.3(GRIN2A):c.*7278G>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321489	NM_001134407.3(GRIN2A):c.*7207G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321491	NM_001134407.3(GRIN2A):c.*7112A>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321490	NM_001134407.3(GRIN2A):c.*7112A>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885916	NM_001134407.3(GRIN2A):c.*7089T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321492	NM_001134407.3(GRIN2A):c.*7009CA[9]	GRIN2A	Microsatellite (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321493	NM_001134407.3(GRIN2A):c.*6986A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321494	NM_001134407.3(GRIN2A):c.*6941C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885917	NM_001134407.3(GRIN2A):c.*6932T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321495	NM_001134407.3(GRIN2A):c.*6906T>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321496	NM_001134407.3(GRIN2A):c.*6897del	GRIN2A	Deletion (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886923	NM_001134407.3(GRIN2A):c.*6865T>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321497	NM_001134407.3(GRIN2A):c.*6846C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886924	NM_001134407.3(GRIN2A):c.*6774T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321498	NM_001134407.3(GRIN2A):c.*6760G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886925	NM_001134407.3(GRIN2A):c.*6750T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 886926	NM_001134407.3(GRIN2A):c.*6685G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321499	NM_001134407.3(GRIN2A):c.*6661G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321500	NM_001134407.3(GRIN2A):c.*6659G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321501	NM_001134407.3(GRIN2A):c.*6609T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 321502	NM_001134407.3(GRIN2A):c.*6601G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321503	NM_001134407.3(GRIN2A):c.*6599T>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321504	NM_001134407.3(GRIN2A):c.*6597G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321505	NM_001134407.3(GRIN2A):c.*6596C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321506	NM_001134407.3(GRIN2A):c.*6545C>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888191	NM_001134407.3(GRIN2A):c.*6528A>G	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GUncertain significance
Select item 321507	NM_001134407.3(GRIN2A):c.*6475T>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885066	NM_001134407.3(GRIN2A):c.*6472G>C	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321508	NM_001134407.3(GRIN2A):c.*6452G>A	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 885067	NM_001134407.3(GRIN2A):c.*6451C>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign
Select item 321509	NM_001134407.3(GRIN2A):c.*6449G>T	GRIN2A	Single nucleotide variant (3 prime UTR variant)	Landau-Kleffner syndrome	GBenign

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