866[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 358999	NM_020632.3(ATP6V0A4):c.*239G>A	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign
Select item 910343	NM_020632.3(ATP6V0A4):c.*180G>T	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 359000	NM_020632.3(ATP6V0A4):c.*162C>T	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 359001	NM_020632.3(ATP6V0A4):c.*111C>A	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 359002	NM_020632.3(ATP6V0A4):c.*73C>T	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive distal renal tubular acidosis	GBenign
Select item 359003	NM_020632.3(ATP6V0A4):c.*24T>A	ATP6V0A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 1331365	NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln)	ATP6V0A4	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 2189429	NM_020632.3(ATP6V0A4):c.2515G>A (p.Glu839Lys)	ATP6V0A4 (E839K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1161885	NM_020632.3(ATP6V0A4):c.2514C>T (p.Ala838=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778365	NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GBenign/Likely benign
Select item 1018488	NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg)	ATP6V0A4 (K824R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 5151	NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg)	ATP6V0A4 (G820R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802368	NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)	ATP6V0A4 (F817L)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis	GLikely pathogenic
Select item 1344704	NM_020632.3(ATP6V0A4):c.2446A>G (p.Lys816Glu)	ATP6V0A4 (K816E)	Single nucleotide variant (missense variant)	Distal renal tubular acidosis	GPathogenic
Select item 2799951	NM_020632.3(ATP6V0A4):c.2430G>A (p.Trp810Ter)	ATP6V0A4 (W810*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2585202	NM_020632.3(ATP6V0A4):c.2430-19G>A	ATP6V0A4	Single nucleotide variant (intron variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GUncertain significance
Select item 1913322	NM_020632.3(ATP6V0A4):c.2430-20C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252452	NM_020632.3(ATP6V0A4):c.2430-92C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279939	NM_020632.3(ATP6V0A4):c.2430-134T>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217502	NM_020632.3(ATP6V0A4):c.2430-159C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240870	NM_020632.3(ATP6V0A4):c.2430-194dup	ATP6V0A4	Duplication (intron variant)	not provided	GBenign
Select item 1237608	NM_020632.3(ATP6V0A4):c.2430-173del	ATP6V0A4	Deletion (intron variant)	not provided	GBenign
Select item 911554	NM_020632.3(ATP6V0A4):c.2429+15C>G	ATP6V0A4	Single nucleotide variant (intron variant)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 2499759	NM_020632.3(ATP6V0A4):c.2429+3A>C	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1514721	NM_020632.3(ATP6V0A4):c.2428T>C (p.Trp810Arg)	ATP6V0A4 (W810R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3236448	NM_020632.3(ATP6V0A4):c.2426A>G (p.His809Arg)	ATP6V0A4 (H809R)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GUncertain significance
Select item 5159	NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)	ATP6V0A4 (R807Q)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 450988	NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)	ATP6V0A4 (R807*)	Single nucleotide variant (nonsense)	Autosomal recessive distal renal tubular acidosis +1 more	GPathogenic/Likely pathogenic
Select item 1916624	NM_020632.3(ATP6V0A4):c.2413G>A (p.Ala805Thr)	ATP6V0A4 (A805T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 359004	NM_020632.3(ATP6V0A4):c.2412C>T (p.His804=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 359005	NM_020632.3(ATP6V0A4):c.2403T>C (p.Ala801=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	Autosomal recessive distal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 2779421	NM_020632.3(ATP6V0A4):c.2390_2391del (p.Glu797fs)	ATP6V0A4 (E797fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1924050	NM_020632.3(ATP6V0A4):c.2338ATT[1] (p.Ile781del)	ATP6V0A4 (I781del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1363899	NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg)	ATP6V0A4 (G777R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911555	NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu)	ATP6V0A4 (V776L)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 786113	NM_020632.3(ATP6V0A4):c.2326G>A (p.Val776Ile)	ATP6V0A4 (V776I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 632498	NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)	ATP6V0A4 (R770*)	Single nucleotide variant (nonsense)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 359006	NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 359007	NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met)	ATP6V0A4 (T769M)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +1 more	GBenign
Select item 840914	NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser)	ATP6V0A4 (G766S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3020142	NM_020632.3(ATP6V0A4):c.2295C>T (p.Ser765=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632613	NM_020632.3(ATP6V0A4):c.2293dup (p.Ser765fs)	ATP6V0A4 (S765fs)	Duplication (frameshift variant)	ATP6V0A4-related disorder	GLikely pathogenic
Select item 1437672	NM_020632.3(ATP6V0A4):c.2293A>G (p.Ser765Gly)	ATP6V0A4 (S765G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865087	NM_020632.3(ATP6V0A4):c.2271G>A (p.Val757=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 359008	NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met)	ATP6V0A4 (L754M)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis +1 more	GUncertain significance
Select item 955469	NM_020632.3(ATP6V0A4):c.2258-1G>A	ATP6V0A4	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2629727	NM_020632.3(ATP6V0A4):c.2258-3C>T	ATP6V0A4	Single nucleotide variant (intron variant)	ATP6V0A4-related disorder	GUncertain significance
Select item 1543508	NM_020632.3(ATP6V0A4):c.2258-7C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643953	NM_020632.3(ATP6V0A4):c.2258-11G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288788	NM_020632.3(ATP6V0A4):c.2258-159_2258-156dup	ATP6V0A4	Duplication (intron variant)	not provided	GBenign
Select item 1231522	NM_020632.3(ATP6V0A4):c.2258-161G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294519	NM_020632.3(ATP6V0A4):c.2257+254_2257+256del	ATP6V0A4	Microsatellite (intron variant)	not provided	GBenign
Select item 973549	NM_020632.3(ATP6V0A4):c.2140-61_2257+166del	ATP6V0A4	Deletion (splice acceptor variant +1 more)	Autosomal recessive distal renal tubular acidosis	GPathogenic
Select item 2964378	NM_020632.3(ATP6V0A4):c.2257+19G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598070	NM_020632.3(ATP6V0A4):c.2257+15_2257+16insGCTCATGCACGTGAGTGAGCAGCCCCCCC	ATP6V0A4	Insertion (splice donor variant)	not provided	GBenign
Select item 1328935	NM_020632.3(ATP6V0A4):c.2257+1G>A	ATP6V0A4	Single nucleotide variant (splice donor variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 5150	NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)	ATP6V0A4 (Q753*)	Single nucleotide variant (nonsense)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GPathogenic
Select item 1043306	NM_020632.3(ATP6V0A4):c.2255C>A (p.Ala752Glu)	ATP6V0A4 (A752E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329467	NM_020632.3(ATP6V0A4):c.2237C>T (p.Ala746Val)	ATP6V0A4 (A746V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439386	NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)	ATP6V0A4 (R743L)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GUncertain significance
Select item 2631844	NM_020632.3(ATP6V0A4):c.2227C>T (p.Arg743Trp)	ATP6V0A4 (R743W)	Single nucleotide variant (missense variant)	ATP6V0A4-related disorder	GLikely pathogenic
Select item 1142495	NM_020632.3(ATP6V0A4):c.2226G>T (p.Leu742=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 908601	NM_020632.3(ATP6V0A4):c.2192G>A (p.Cys731Tyr)	ATP6V0A4 (C731Y)	Single nucleotide variant (missense variant)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 591498	NM_020632.3(ATP6V0A4):c.2173A>G (p.Ile725Val)	ATP6V0A4 (I725V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416410	NM_020632.3(ATP6V0A4):c.2170G>A (p.Ala724Thr)	ATP6V0A4 (A724T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356296	NM_020632.3(ATP6V0A4):c.2155G>A (p.Val719Ile)	ATP6V0A4 (V719I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798669	NM_020632.3(ATP6V0A4):c.2154C>T (p.Asp718=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 359009	NM_020632.3(ATP6V0A4):c.2140-9G>A	ATP6V0A4	Single nucleotide variant (intron variant)	Autosomal recessive distal renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 1672595	NM_020632.3(ATP6V0A4):c.2140-10C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250321	NM_020632.3(ATP6V0A4):c.2140-170G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283016	NM_020632.3(ATP6V0A4):c.2140-232T>G	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199675	NM_020632.3(ATP6V0A4):c.2139+332G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271205	NM_020632.3(ATP6V0A4):c.2139+274G>A	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182448	NM_020632.3(ATP6V0A4):c.2139+238C>T	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2148795	NM_020632.3(ATP6V0A4):c.2139+5C>G	ATP6V0A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2691295	NM_020632.3(ATP6V0A4):c.2139+1G>T	ATP6V0A4	Single nucleotide variant (splice donor variant)	Autosomal recessive distal renal tubular acidosis	GLikely pathogenic
Select item 977293	NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs)	ATP6V0A4 (E713fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1353908	NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg)	ATP6V0A4 (H710R)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more	GUncertain significance
Select item 2067274	NM_020632.3(ATP6V0A4):c.2125G>C (p.Asp709His)	ATP6V0A4 (D709H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1987048	NM_020632.3(ATP6V0A4):c.2124C>T (p.Asp708=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3329468	NM_020632.3(ATP6V0A4):c.2119C>G (p.Leu707Val)	ATP6V0A4 (L707V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2420871	NM_020632.3(ATP6V0A4):c.2118T>C (p.Ala706=)	ATP6V0A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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