SNED1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 59179	GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3	LOC129936008, LOC129936009 +47 more	Copy number gain	See cases	GPathogenic
Select item 3321181	NM_001080437.3(SNED1):c.37G>A (p.Ala13Thr)	SNED1 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378379	NM_001080437.3(SNED1):c.74C>A (p.Ala25Glu)	SNED1 (A25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363239	NM_001080437.3(SNED1):c.109G>A (p.Glu37Lys)	SNED1 (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491158	NM_001080437.3(SNED1):c.164C>T (p.Pro55Leu)	SNED1 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441006	NM_001080437.3(SNED1):c.210_211dup (p.Tyr71fs)	SNED1 (Y71fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 2525324	NM_001080437.3(SNED1):c.245A>G (p.Lys82Arg)	SNED1, SNED1-AS1 (K82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166979	NM_001080437.3(SNED1):c.332G>A (p.Arg111Gln)	SNED1, SNED1-AS1 (R111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321166	NM_001080437.3(SNED1):c.335G>A (p.Arg112His)	SNED1, SNED1-AS1 (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509715	NM_001080437.3(SNED1):c.338C>G (p.Ala113Gly)	SNED1, SNED1-AS1 (A113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379026	NM_001080437.3(SNED1):c.343G>A (p.Asp115Asn)	SNED1, SNED1-AS1 (D115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321167	NM_001080437.3(SNED1):c.386G>A (p.Arg129Gln)	SNED1, SNED1-AS1 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321184	NM_001080437.3(SNED1):c.392C>T (p.Thr131Met)	SNED1, SNED1-AS1 (T131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347795	NM_001080437.3(SNED1):c.394G>A (p.Glu132Lys)	SNED1, SNED1-AS1 (E132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278634	NM_001080437.3(SNED1):c.445G>A (p.Val149Ile)	SNED1, SNED1-AS1 (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491646	NM_001080437.3(SNED1):c.455C>G (p.Ala152Gly)	SNED1, SNED1-AS1 (A152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206898	NM_001080437.3(SNED1):c.491C>T (p.Ser164Phe)	SNED1, SNED1-AS1 (S164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652103	NM_001080437.3(SNED1):c.576G>A (p.Val192=)	SNED1, SNED1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775838	NM_001080437.3(SNED1):c.660C>G (p.Gly220=)	SNED1, SNED1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652104	NM_001080437.3(SNED1):c.675C>T (p.Tyr225=)	SNED1, SNED1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2380573	NM_001080437.3(SNED1):c.796G>A (p.Gly266Ser)	SNED1, SNED1-AS1 (G266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374303	NM_001080437.3(SNED1):c.821C>T (p.Ala274Val)	SNED1, SNED1-AS1 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321177	NM_001080437.3(SNED1):c.851G>T (p.Cys284Phe)	SNED1, SNED1-AS1 (C284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791900	NM_001080437.3(SNED1):c.984C>T (p.His328=)	SNED1, SNED1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2519927	NM_001080437.3(SNED1):c.985G>A (p.Gly329Ser)	SNED1, SNED1-AS1 (G329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300340	NM_001080437.3(SNED1):c.1001G>A (p.Arg334His)	SNED1, SNED1-AS1 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382156	NM_001080437.3(SNED1):c.1054C>T (p.Pro352Ser)	SNED1, SNED1-AS1 (P352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238616	NM_001080437.3(SNED1):c.1167C>A (p.Asp389Glu)	SNED1, SNED1-AS1 (D389E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245042	NM_001080437.3(SNED1):c.1220G>A (p.Gly407Glu)	SNED1, SNED1-AS1 (G407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789574	NM_001080437.3(SNED1):c.1221G>T (p.Gly407=)	SNED1-AS1, SNED1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2461716	NM_001080437.3(SNED1):c.1294G>A (p.Ala432Thr)	MTERF4, SNED1 +1 more (A432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321179	NM_001080437.3(SNED1):c.1340C>A (p.Ala447Glu)	MTERF4, SNED1 +1 more (A447E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206407	NM_001080437.3(SNED1):c.1373G>C (p.Gly458Ala)	MTERF4, SNED1 +1 more (G458A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544335	NM_001080437.3(SNED1):c.1380G>C (p.Met460Ile)	MTERF4, SNED1 +1 more (M460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166971	NM_001080437.3(SNED1):c.1419G>C (p.Glu473Asp)	MTERF4, SNED1 +1 more (E473D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280448	NM_001080437.3(SNED1):c.1454C>A (p.Thr485Asn)	MTERF4, SNED1 +1 more (T485N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487182	NM_001080437.3(SNED1):c.1530G>C (p.Met510Ile)	MTERF4, SNED1 +1 more (M510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557146	NM_001080437.3(SNED1):c.1549G>A (p.Gly517Arg)	MTERF4, SNED1 +1 more (G517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283791	NM_001080437.3(SNED1):c.1565A>G (p.Glu522Gly)	MTERF4, SNED1 +1 more (E522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554554	NM_001080437.3(SNED1):c.1588G>T (p.Val530Phe)	MTERF4, SNED1 +1 more (V530F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316827	NM_001080437.3(SNED1):c.1588G>A (p.Val530Ile)	MTERF4, SNED1 +1 more (V530I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215697	NM_001080437.3(SNED1):c.1600G>A (p.Asp534Asn)	MTERF4, SNED1 +1 more (D534N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166972	NM_001080437.3(SNED1):c.1717G>A (p.Gly573Ser)	MTERF4, SNED1 +1 more (G573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321182	NM_001080437.3(SNED1):c.1739G>A (p.Arg580Gln)	MTERF4, SNED1 +1 more (R580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512357	NM_001080437.3(SNED1):c.1801G>A (p.Glu601Lys)	MTERF4, SNED1 +1 more (E601K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652105	NM_001080437.3(SNED1):c.1947C>T (p.Phe649=)	MTERF4, SNED1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3321168	NM_001080437.3(SNED1):c.1955G>A (p.Arg652Gln)	SNED1, SNED1-AS1 +1 more (R652Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366053	NM_001080437.3(SNED1):c.1972C>T (p.Pro658Ser)	MTERF4, SNED1 +1 more (P658S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213964	NM_001080437.3(SNED1):c.1975T>C (p.Ser659Pro)	MTERF4, SNED1 +1 more (S659P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390942	NM_001080437.3(SNED1):c.1979C>T (p.Pro660Leu)	MTERF4, SNED1 +1 more (P660L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228319	NM_001080437.3(SNED1):c.1987C>T (p.Arg663Trp)	MTERF4, SNED1 +1 more (R663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268212	NM_001080437.3(SNED1):c.2009G>A (p.Gly670Asp)	MTERF4, SNED1 +1 more (G670D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228637	NM_001080437.3(SNED1):c.2030C>T (p.Thr677Met)	MTERF4, SNED1 +1 more (T677M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463733	NM_001080437.3(SNED1):c.2045A>G (p.His682Arg)	MTERF4, SNED1 +1 more (H682R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555871	NM_001080437.3(SNED1):c.2098C>A (p.Pro700Thr)	MTERF4, SNED1 +1 more (P700T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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