8398[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 899755	NM_003560.2(PLA2G6):c.*676T>C	PLA2G6	Single nucleotide variant	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 899756	NM_003560.2(PLA2G6):c.*672G>A	PLA2G6	Single nucleotide variant	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 899757	NM_003560.4(PLA2G6):c.*620G>A	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341624	NM_003560.4(PLA2G6):c.*589C>G	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GLikely benign
Select item 341625	NM_003560.4(PLA2G6):c.*565C>G	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341626	NM_003560.4(PLA2G6):c.*548C>G	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341627	NM_003560.4(PLA2G6):c.*541C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 900910	NM_003560.4(PLA2G6):c.*515C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 900911	NM_003560.4(PLA2G6):c.*493C>G	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341628	NM_003560.4(PLA2G6):c.*473C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341629	NM_003560.4(PLA2G6):c.*350C>A	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration +1 more	GBenign
Select item 341630	NM_003560.4(PLA2G6):c.*301G>A	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GBenign
Select item 1191507	NM_003560.4(PLA2G6):c.*230C>G	PLA2G6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 341631	NM_003560.4(PLA2G6):c.*191C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 341632	NM_003560.4(PLA2G6):c.183_187del	PLA2G6	Deletion (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 341633	NM_003560.4(PLA2G6):c.*160T>C	PLA2G6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1219137	NM_003560.4(PLA2G6):c.*148C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1196934	NM_003560.4(PLA2G6):c.*81G>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 902578	NM_003560.4(PLA2G6):c.*35C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 211908	NM_003560.4(PLA2G6):c.*19C>T	PLA2G6	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2817177	NM_003560.4(PLA2G6):c.2418C>G (p.Pro806=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 211910	NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)	PLA2G6 (P806R +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 809364	NM_003560.4(PLA2G6):c.2416C>T (p.Pro806Ser)	PLA2G6 (P574S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889684	NM_003560.4(PLA2G6):c.2412C>T (p.Leu804=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1307176	NM_003560.4(PLA2G6):c.2410C>T (p.Leu804Phe)	PLA2G6 (L572F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159767	NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His)	PLA2G6 (L799H +4 more)	Single nucleotide variant (missense variant)	Iron accumulation in brain	GLikely pathogenic
Select item 2869886	NM_003560.4(PLA2G6):c.2391G>A (p.Gln797=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2412777	NM_003560.4(PLA2G6):c.2389C>T (p.Gln797Ter)	PLA2G6 (Q565* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 1346267	NM_003560.4(PLA2G6):c.2379C>T (p.Arg793=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1500186	NM_003560.4(PLA2G6):c.2377C>T (p.Arg793Cys)	PLA2G6 (R567C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902579	NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln)	PLA2G6 (H560Q +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 1303106	NM_003560.4(PLA2G6):c.2375A>C (p.His792Pro)	PLA2G6 (H560P +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +1 more	GUncertain significance
Select item 6201	NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	PLA2G6	Deletion (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 6195	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	PLA2G6 (Y790* +4 more)	Single nucleotide variant (nonsense)	PLA2G6-related disorder +11 more	GConflicting classifications of pathogenicity
Select item 1389626	NM_003560.4(PLA2G6):c.2369A>G (p.Tyr790Cys)	PLA2G6 (Y558C +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 2056830	NM_003560.4(PLA2G6):c.2367C>T (p.Ile789=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 211912	NM_003560.4(PLA2G6):c.2364C>T (p.Tyr788=)	PLA2G6	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2180225	NM_003560.4(PLA2G6):c.2358G>T (p.Glu786Asp)	PLA2G6 (E608D +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 1012262	NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys)	PLA2G6 (E554K +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration	GUncertain significance
Select item 998023	NM_003560.4(PLA2G6):c.[2356G>A;668C>A]	PLA2G6 (E554K +6 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 809365	NM_003560.4(PLA2G6):c.2356G>C (p.Glu786Gln)	PLA2G6 (E608Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164545	NM_003560.4(PLA2G6):c.2355C>T (p.Thr785=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy +1 more	GBenign/Likely benign
Select item 803688	NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys)	PLA2G6 (E558K +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GLikely pathogenic
Select item 1012697	NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter)	PLA2G6 (W551* +4 more)	Single nucleotide variant (nonsense)	Infantile neuroaxonal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2896919	NM_003560.4(PLA2G6):c.2346C>T (p.Leu782=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1548832	NM_003560.4(PLA2G6):c.2343C>T (p.Ala781=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1459239	NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr)	PLA2G6 (A555T +4 more)	Single nucleotide variant (missense variant)	PLA2G6-associated neurodegeneration +1 more	GConflicting classifications of pathogenicity
Select item 159765	NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +3 more	GBenign/Likely benign
Select item 1400648	NM_003560.4(PLA2G6):c.2339A>G (p.Asn780Ser)	PLA2G6 (N548S +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 853848	NM_003560.4(PLA2G6):c.2335G>T (p.Val779Phe)	PLA2G6 (V547F +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 159764	NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs)	PLA2G6 (T544fs +4 more)	Microsatellite (frameshift variant)	Iron accumulation in brain +1 more	GPathogenic
Select item 2170517	NM_003560.4(PLA2G6):c.2326A>G (p.Thr776Ala)	PLA2G6 (T722A +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 2014748	NM_003560.4(PLA2G6):c.2316G>T (p.Glu772Asp)	PLA2G6 (E540D +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 1968697	NM_003560.4(PLA2G6):c.2306T>C (p.Met769Thr)	PLA2G6 (M537T +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 2917063	NM_003560.4(PLA2G6):c.2298G>A (p.Thr766=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1481315	NM_003560.4(PLA2G6):c.2297C>T (p.Thr766Met)	PLA2G6 (T766M +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 2920311	NM_003560.4(PLA2G6):c.2295G>A (p.Gly765=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1177288	NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter)	PLA2G6 (Q531* +4 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation +1 more	GLikely pathogenic
Select item 504363	NM_003560.4(PLA2G6):c.2277-2A>C	PLA2G6	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1411542	NM_003560.4(PLA2G6):c.2277-4A>G	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 702733	NM_003560.4(PLA2G6):c.2277-6G>A	PLA2G6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2757072	NM_003560.4(PLA2G6):c.2277-7C>G	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 444588	NM_003560.4(PLA2G6):c.2277-7C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy +1 more	GLikely benign
Select item 2745642	NM_003560.4(PLA2G6):c.2277-9C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2169348	NM_003560.4(PLA2G6):c.2277-13C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2834004	NM_003560.4(PLA2G6):c.2277-14C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2041607	NM_003560.4(PLA2G6):c.2277-15C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2754432	NM_003560.4(PLA2G6):c.2277-18C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1220441	NM_003560.4(PLA2G6):c.2277-67T>C	PLA2G6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229965	NM_003560.4(PLA2G6):c.2276+43G>A	PLA2G6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208613	NM_003560.4(PLA2G6):c.2276+43G>C	PLA2G6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904859	NM_003560.4(PLA2G6):c.2276+19C>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2829095	NM_003560.4(PLA2G6):c.2276+18C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2064320	NM_003560.4(PLA2G6):c.2276+17C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1608964	NM_003560.4(PLA2G6):c.2276+15G>A	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1568631	NM_003560.4(PLA2G6):c.2276+14C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1647032	NM_003560.4(PLA2G6):c.2276+10C>T	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2834790	NM_003560.4(PLA2G6):c.2276+9T>C	PLA2G6	Single nucleotide variant (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2804847	NM_003560.4(PLA2G6):c.2276+7del	PLA2G6	Deletion (intron variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2709169	NM_003560.4(PLA2G6):c.2276+1G>C	PLA2G6	Single nucleotide variant (splice donor variant)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 803689	NM_003560.4(PLA2G6):c.2276+1G>A	PLA2G6	Single nucleotide variant (splice donor variant)	Infantile neuroaxonal dystrophy +1 more	GPathogenic
Select item 2750362	NM_003560.4(PLA2G6):c.2271C>T (p.Tyr757=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1362966	NM_003560.4(PLA2G6):c.2260G>A (p.Gly754Ser)	PLA2G6 (G528S +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 2976328	NM_003560.4(PLA2G6):c.2259C>G (p.Val753=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 341634	NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)	PLA2G6	Single nucleotide variant (synonymous variant)	PLA2G6-associated neurodegeneration +3 more	GConflicting classifications of pathogenicity
Select item 1388593	NM_003560.4(PLA2G6):c.2257G>T (p.Val753Phe)	PLA2G6 (V575F +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2980944	NM_003560.4(PLA2G6):c.2253G>A (p.Glu751=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 2138447	NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)	PLA2G6 (E519K +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1012698	NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter)	PLA2G6 (E519* +4 more)	Single nucleotide variant (nonsense)	Infantile neuroaxonal dystrophy +1 more	GPathogenic
Select item 2049291	NM_003560.4(PLA2G6):c.2250C>T (p.Cys750=)	PLA2G6	Single nucleotide variant (synonymous variant)	Infantile neuroaxonal dystrophy	GLikely benign
Select item 1339155	NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr)	PLA2G6 (C518Y +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 634589	NM_003560.4(PLA2G6):c.2248T>C (p.Cys750Arg)	PLA2G6 (C750R +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy	GUncertain significance
Select item 159763	NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser)	PLA2G6 (W749S +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GConflicting classifications of pathogenicity

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