2771[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60231	GRCh38/hg38 19p13.3(chr19:677680-899104)x3	AZU1, CFD +25 more	Copy number gain	See cases	GUncertain significance
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 145089	GRCh38/hg38 19p13.3(chr19:839492-995558)x1	ARID3A, CFD +27 more	Copy number loss	See cases	GPathogenic
Select item 3040763	NM_001928.4(CFD):c.-8G>A	CFD	Single nucleotide variant (5 prime UTR variant)	CFD-related disorder	GLikely benign
Select item 1461919	NM_001928.4(CFD):c.4C>T (p.His2Tyr)	CFD (H2Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945960	NM_001928.4(CFD):c.8_9delinsTT (p.Ser3Ile)	CFD (S3I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2192251	NM_001928.4(CFD):c.15G>A (p.Glu5=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371851	NM_001928.4(CFD):c.17G>A (p.Arg6His)	CFD (R6H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805769	NM_001928.4(CFD):c.33C>A (p.Val11=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713661	NM_001928.4(CFD):c.39A>G (p.Leu13=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011547	NM_001928.4(CFD):c.40G>T (p.Gly14Ter)	CFD (G14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2862898	NM_001928.4(CFD):c.45G>A (p.Ala15=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372595	NM_001928.4(CFD):c.46G>A (p.Ala16Thr)	CFD (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912317	NM_001928.4(CFD):c.54C>G (p.Cys18Trp)	CFD (C18W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2778161	NM_001928.4(CFD):c.55+7A>C	CFD (E21A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1618493	NM_001928.4(CFD):c.55+12T>C	CFD (W23R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1650965	NM_001928.4(CFD):c.55+15G>C	CFD (A24P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1916650	NM_001928.4(CFD):c.55+16C>A	CFD (A24D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1921829	NM_001928.4(CFD):c.56-15C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561105	NM_001928.4(CFD):c.56-13C>T	CFD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1626916	NM_001928.4(CFD):c.56-12G>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1483555	NM_001928.4(CFD):c.56-9C>A	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625884	NM_001928.4(CFD):c.56-7C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1518831	NM_001928.4(CFD):c.56-6C>G	CFD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2776681	NM_001928.4(CFD):c.56-5C>T	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 636704	NM_001928.4(CFD):c.56-1G>C	CFD	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1989973	NM_001928.4(CFD):c.58G>A (p.Ala20Thr)	CFD (A20T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475324	NM_001928.4(CFD):c.59C>T (p.Ala20Val)	CFD (A20V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571983	NM_001928.4(CFD):c.60G>A (p.Ala20=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163717	NM_001928.4(CFD):c.65C>G (p.Pro22Arg)	CFD (P22R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374995	NM_001928.4(CFD):c.67C>G (p.Arg23Gly)	CFD (R30G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648870	NM_001928.4(CFD):c.69T>G (p.Arg23=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554398	NM_001928.4(CFD):c.75G>T (p.Arg25=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047249	NM_001928.4(CFD):c.77T>G (p.Ile26Ser)	CFD (I26S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067534	NM_001928.4(CFD):c.79C>G (p.Leu27Val)	CFD (L27V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977622	NM_001928.4(CFD):c.84C>A (p.Gly28=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179709	NM_001928.4(CFD):c.93G>C (p.Glu31Asp)	CFD (E31D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959502	NM_001928.4(CFD):c.96C>T (p.Ala32=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826073	NM_001928.4(CFD):c.105C>T (p.His35=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298473	NM_001928.4(CFD):c.105C>G (p.His35Gln)	CFD (H42Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693726	NM_001928.4(CFD):c.107C>T (p.Ala36Val)	CFD (A36V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1560392	NM_001928.4(CFD):c.109C>A (p.Arg37=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384440	NM_001928.4(CFD):c.110G>C (p.Arg37Pro)	CFD (R37P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977660	NM_001928.4(CFD):c.112C>T (p.Pro38Ser)	CFD (P38S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472420	NM_001928.4(CFD):c.116A>G (p.Tyr39Cys)	CFD (Y46C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529001	NM_001928.4(CFD):c.117C>T (p.Tyr39=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511411	NM_001928.4(CFD):c.118A>G (p.Met40Val)	CFD (M40V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1494493	NM_001928.4(CFD):c.120G>A (p.Met40Ile)	CFD (M40I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057174	NM_001928.4(CFD):c.122C>A (p.Ala41Glu)	CFD (A41E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636410	NM_001928.4(CFD):c.125C>T (p.Ser42Leu)	CFD (S42L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16564	NM_001928.4(CFD):c.125C>A (p.Ser42Ter)	CFD (S42* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3003211	NM_001928.4(CFD):c.126G>A (p.Ser42=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900060	NM_001928.4(CFD):c.132del (p.Gln44fs)	CFD (Q44fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1449869	NM_001928.4(CFD):c.138C>A (p.Asn46Lys)	CFD (N46K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418176	NM_001928.4(CFD):c.142G>A (p.Ala48Thr)	CFD (A48T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640765	NM_001928.4(CFD):c.147C>T (p.His49=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266601	NM_001928.4(CFD):c.151T>C (p.Cys51Arg)	CFD (C58R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412951	NM_001928.4(CFD):c.153C>A (p.Cys51Ter)	CFD (C58* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2245260	NM_001928.4(CFD):c.154G>A (p.Gly52Ser)	CFD (G59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1348313	NM_001928.4(CFD):c.157G>A (p.Gly53Ser)	CFD (G53S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924531	NM_001928.4(CFD):c.163C>T (p.Leu55=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413043	NM_001928.4(CFD):c.164T>C (p.Leu55Pro)	CFD (L55P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325370	NM_001928.4(CFD):c.170C>T (p.Ala57Val)	CFD (A64V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1919854	NM_001928.4(CFD):c.181G>A (p.Val61Met)	CFD (V68M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1652559	NM_001928.4(CFD):c.186G>C (p.Leu62=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927909	NM_001928.4(CFD):c.190G>A (p.Ala64Thr)	CFD (A64T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552013	NM_001928.4(CFD):c.192G>C (p.Ala64=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156913	NM_001928.4(CFD):c.192G>A (p.Ala64=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983390	NM_001928.4(CFD):c.202C>T (p.Leu68=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1165412	NM_001928.4(CFD):c.205G>A (p.Glu69Lys)	CFD (E69K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2417863	NM_001928.4(CFD):c.212+2T>G	CFD	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 728897	NM_001928.4(CFD):c.212+7G>T	CFD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167423	NM_001928.4(CFD):c.212+11G>A	CFD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1976911	NM_001928.4(CFD):c.212+13G>A	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790423	NM_001928.4(CFD):c.213-15C>G	CFD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 402532	NM_001928.4(CFD):c.213-9G>C	CFD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1978505	NM_001928.4(CFD):c.213-7T>A	CFD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961905	NM_001928.4(CFD):c.213-2A>C	CFD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2062993	NM_001928.4(CFD):c.215C>T (p.Ala72Val)	CFD (A72V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378334	NM_001928.4(CFD):c.219C>A (p.Asp73Glu)	CFD (D73E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385725	NM_001928.4(CFD):c.220G>C (p.Gly74Arg)	CFD (G74R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646720	NM_001928.4(CFD):c.231G>A (p.Gln77=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412361	NM_001928.4(CFD):c.232G>T (p.Val78Phe)	CFD (V78F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1470282	NM_001928.4(CFD):c.233T>C (p.Val78Ala)	CFD (V85A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1456219	NM_001928.4(CFD):c.237C>T (p.Leu79=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683466	NM_001928.4(CFD):c.245C>T (p.Ala82Val)	CFD (A82V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400104	NM_001928.4(CFD):c.250T>G (p.Ser84Ala)	CFD (S84A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348296	NM_001928.4(CFD):c.257C>T (p.Ser86Leu)	CFD (S86L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904521	NM_001928.4(CFD):c.258G>A (p.Ser86=)	CFD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441428	NM_001928.4(CFD):c.265G>C (p.Glu89Gln)	CFD (E89Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207531	NM_001928.4(CFD):c.267G>T (p.Glu89Asp)	CFD (E89D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1163718	NM_001928.4(CFD):c.268C>T (p.Pro90Ser)	CFD (P90S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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