2680[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	ARFGAP1, ARFRP1 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 3234573	NM_001193369.2(DIDO1):c.6582C>T (p.Ser2194=)	DIDO1, LOC125387317	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243254	NM_001193369.2(DIDO1):c.6500A>T (p.Lys2167Met)	DIDO1, LOC125387317 (K2167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738874	NM_001193369.2(DIDO1):c.6239A>G (p.Asn2080Ser)	DIDO1 (N2080S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2246742	NM_001193369.2(DIDO1):c.5669G>C (p.Gly1890Ala)	DIDO1 (G1890A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358605	NM_001193369.2(DIDO1):c.5491C>T (p.Leu1831Phe)	DIDO1 (L1831F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246741	NM_001193369.2(DIDO1):c.5363C>T (p.Ser1788Phe)	DIDO1, LOC129391208 (S1788F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082391	NM_001193369.2(DIDO1):c.5191G>A (p.Glu1731Lys)	DIDO1 (E1731K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783872	NM_001193369.2(DIDO1):c.5150G>A (p.Gly1717Asp)	DIDO1 (G1717D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769107	NM_001193369.2(DIDO1):c.5116C>G (p.Leu1706Val)	DIDO1 (L1706V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733406	NM_001193369.2(DIDO1):c.4888G>A (p.Glu1630Lys)	DIDO1 (E1630K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710159	NM_001193369.2(DIDO1):c.4847C>T (p.Ser1616Phe)	DIDO1 (S1616F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2354534	NM_001193369.2(DIDO1):c.4723G>C (p.Gly1575Arg)	DIDO1 (G1575R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652512	NM_001193369.2(DIDO1):c.4710C>T (p.Thr1570=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257755	NM_001193369.2(DIDO1):c.4697T>A (p.Leu1566Gln)	DIDO1 (L1566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726109	NM_001193369.2(DIDO1):c.4493A>C (p.Glu1498Ala)	DIDO1 (E1498A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 769108	NM_001193369.2(DIDO1):c.4329C>T (p.Asp1443=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652513	NM_001193369.2(DIDO1):c.4287G>A (p.Glu1429=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777609	NM_001193369.2(DIDO1):c.4015A>T (p.Thr1339Ser)	DIDO1 (T1339S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2258818	NM_001193369.2(DIDO1):c.3973A>C (p.Lys1325Gln)	DIDO1 (K1325Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652514	NM_001193369.2(DIDO1):c.3882G>A (p.Ala1294=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235926	NM_001193369.2(DIDO1):c.3691G>A (p.Val1231Ile)	DIDO1 (V1231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286398	NM_001193369.2(DIDO1):c.3554C>T (p.Pro1185Leu)	DIDO1 (P1185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082389	NM_001193369.2(DIDO1):c.3526C>T (p.Pro1176Ser)	DIDO1 (P1176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320817	NM_001193369.2(DIDO1):c.3400A>C (p.Ile1134Leu)	DIDO1 (I1134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544461	NM_001193369.2(DIDO1):c.3369C>A (p.His1123Gln)	DIDO1 (H1123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226728	NM_001193369.2(DIDO1):c.3292G>A (p.Ala1098Thr)	DIDO1 (A1098T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082388	NM_001193369.2(DIDO1):c.3157C>T (p.Leu1053Phe)	DIDO1 (L1053F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738875	NM_001193369.2(DIDO1):c.3120C>T (p.Ser1040=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082387	NM_001193369.2(DIDO1):c.3097A>G (p.Ile1033Val)	DIDO1 (I1033V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082386	NM_001193369.2(DIDO1):c.2996C>T (p.Pro999Leu)	DIDO1 (P999L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495357	NM_001193369.2(DIDO1):c.2984G>A (p.Arg995Lys)	DIDO1 (R995K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082385	NM_001193369.2(DIDO1):c.2953C>T (p.Arg985Cys)	DIDO1 (R985C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511239	NM_001193369.2(DIDO1):c.2935G>A (p.Val979Met)	DIDO1 (V979M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082384	NM_001193369.2(DIDO1):c.2911G>A (p.Ala971Thr)	DIDO1 (A971T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366147	NM_001193369.2(DIDO1):c.2911G>T (p.Ala971Ser)	DIDO1 (A971S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082383	NM_001193369.2(DIDO1):c.2687C>T (p.Pro896Leu)	DIDO1 (P896L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411629	NM_001193369.2(DIDO1):c.2669C>G (p.Ser890Cys)	DIDO1 (S890C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788035	NM_001193369.2(DIDO1):c.2631T>C (p.Ser877=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2408001	NM_001193369.2(DIDO1):c.2627C>T (p.Ala876Val)	DIDO1 (A876V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459873	NM_001193369.2(DIDO1):c.2494G>A (p.Val832Ile)	DIDO1 (V832I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221980	NM_001193369.2(DIDO1):c.2359A>T (p.Asn787Tyr)	DIDO1 (N787Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218387	NM_001193369.2(DIDO1):c.2337G>A (p.Met779Ile)	DIDO1 (M779I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411436	NM_001193369.2(DIDO1):c.2287G>A (p.Val763Ile)	DIDO1 (V763I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082382	NM_001193369.2(DIDO1):c.2255C>T (p.Ala752Val)	DIDO1 (A752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316994	NM_001193369.2(DIDO1):c.2228G>A (p.Arg743His)	DIDO1 (R743H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488630	NM_001193369.2(DIDO1):c.2084C>G (p.Thr695Arg)	DIDO1 (T695R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233650	NM_001193369.2(DIDO1):c.2059A>G (p.Asn687Asp)	DIDO1 (N687D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277258	NM_001193369.2(DIDO1):c.1981G>A (p.Ala661Thr)	DIDO1 (A661T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227979	NM_001193369.2(DIDO1):c.1884C>G (p.Phe628Leu)	DIDO1 (F628L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082381	NM_001193369.2(DIDO1):c.1874C>A (p.Ser625Tyr)	DIDO1 (S625Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407508	NM_001193369.2(DIDO1):c.1862C>T (p.Ala621Val)	DIDO1 (A621V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652515	NM_001193369.2(DIDO1):c.1847C>T (p.Pro616Leu)	DIDO1 (P616L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2538202	NM_001193369.2(DIDO1):c.1744G>A (p.Ala582Thr)	DIDO1 (A582T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234372	NM_001193369.2(DIDO1):c.1734A>T (p.Ala578=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234373	NM_001193369.2(DIDO1):c.1731A>T (p.Ala577=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213915	NM_001193369.2(DIDO1):c.1699G>A (p.Val567Met)	DIDO1 (V567M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769109	NM_001193369.2(DIDO1):c.1611C>T (p.Ser537=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082380	NM_001193369.2(DIDO1):c.1603A>T (p.Arg535Trp)	DIDO1 (R535W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236709	NM_001193369.2(DIDO1):c.1561G>A (p.Ala521Thr)	DIDO1 (A521T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337029	NM_001193369.2(DIDO1):c.1460C>T (p.Ala487Val)	DIDO1 (A487V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082379	NM_001193369.2(DIDO1):c.1408C>A (p.Pro470Thr)	DIDO1 (P470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082378	NM_001193369.2(DIDO1):c.1387A>G (p.Ile463Val)	DIDO1 (I463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602454	NM_001193369.2(DIDO1):c.1309C>G (p.Pro437Ala)	DIDO1 (P437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263792	NM_001193369.2(DIDO1):c.1210C>T (p.His404Tyr)	DIDO1 (H404Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616305	NM_001193369.2(DIDO1):c.1087G>C (p.Asp363His)	DIDO1 (D363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493303	NM_001193369.2(DIDO1):c.1045G>A (p.Asp349Asn)	DIDO1 (D349N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318468	NM_001193369.2(DIDO1):c.995C>T (p.Thr332Met)	DIDO1 (T332M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381046	NM_001193369.2(DIDO1):c.986A>G (p.His329Arg)	DIDO1 (H329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616357	NM_001193369.2(DIDO1):c.961A>G (p.Ile321Val)	DIDO1 (I321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652516	NM_001193369.2(DIDO1):c.894C>G (p.Gly298=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082395	NM_001193369.2(DIDO1):c.803C>T (p.Ala268Val)	DIDO1 (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082394	NM_001193369.2(DIDO1):c.802G>A (p.Ala268Thr)	DIDO1 (A268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789358	NM_001193369.2(DIDO1):c.801C>T (p.Asn267=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509949	NM_001193369.2(DIDO1):c.772A>C (p.Lys258Gln)	DIDO1 (K258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296977	NM_001193369.2(DIDO1):c.725C>T (p.Ala242Val)	DIDO1 (A242V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265291	NM_001193369.2(DIDO1):c.696T>A (p.Asp232Glu)	DIDO1 (D232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082393	NM_001193369.2(DIDO1):c.622A>G (p.Thr208Ala)	DIDO1 (T208A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592500	NM_001193369.2(DIDO1):c.577C>T (p.Arg193Trp)	DIDO1 (R193W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402174	NM_001193369.2(DIDO1):c.575G>A (p.Arg192His)	DIDO1 (R192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507733	NM_001193369.2(DIDO1):c.566G>A (p.Arg189Gln)	DIDO1 (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474489	NM_001193369.2(DIDO1):c.515G>A (p.Arg172Gln)	DIDO1 (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558746	NM_001193369.2(DIDO1):c.500G>A (p.Arg167His)	DIDO1 (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232945	NM_001193369.2(DIDO1):c.494A>G (p.Gln165Arg)	DIDO1 (Q165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688927	NM_001193369.2(DIDO1):c.468C>T (p.Ser156=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 787502	NM_001193369.2(DIDO1):c.408A>G (p.Pro136=)	DIDO1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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