6702[HGNC] - 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	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 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 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 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	GPC1-AS1, GPR35 +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 58938	GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3	ERFE, ESPNL +42 more	Copy number gain	See cases	GUncertain significance
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 2461982	NM_001137550.2(LRRFIP1):c.97-16053C>G	LOC129935922, LRRFIP1 (I12M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259467	NM_001137550.2(LRRFIP1):c.97-16052G>A	LOC129935922, LRRFIP1 (D13N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410382	NM_001137550.2(LRRFIP1):c.97-16040C>T	LOC129935922, LRRFIP1 (P17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460619	NM_001137550.2(LRRFIP1):c.97-16033C>A	LOC129935922, LRRFIP1 (A19E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121055	NM_001137550.2(LRRFIP1):c.121C>T (p.Arg41Trp)	LRRFIP1 (R41W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551315	NM_001137550.2(LRRFIP1):c.125C>T (p.Ala42Val)	LRRFIP1 (A42V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801758	NM_001137550.2(LRRFIP1):c.131G>A (p.Arg44His)	LRRFIP1 (R34H +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2210047	NM_001137550.2(LRRFIP1):c.145G>A (p.Glu49Lys)	LRRFIP1 (E39K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236037	NM_001137550.2(LRRFIP1):c.164T>C (p.Leu55Pro)	LRRFIP1 (L45P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310979	NM_001137550.2(LRRFIP1):c.278C>T (p.Ser93Phe)	LRRFIP1 (S61F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121051	NM_001137550.2(LRRFIP1):c.683T>A (p.Met228Lys)	LRRFIP1 (M100K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790520	NM_001137550.2(LRRFIP1):c.780C>T (p.Ser260=)	LRRFIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3121052	NM_001137550.2(LRRFIP1):c.907A>G (p.Met303Val)	LRRFIP1 (M119V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121053	NM_001137550.2(LRRFIP1):c.998A>G (p.Gln333Arg)	LRRFIP1 (Q205R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652055	NM_001137550.2(LRRFIP1):c.1023C>T (p.Tyr341=)	LRRFIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3121054	NM_001137550.2(LRRFIP1):c.1063C>A (p.His355Asn)	LRRFIP1 (H171N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320784	NM_001137550.2(LRRFIP1):c.1082A>G (p.Gln361Arg)	LRRFIP1 (Q209R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245963	NM_001137550.2(LRRFIP1):c.1433T>C (p.Leu478Pro)	LRRFIP1 (L232P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288749	NM_001137550.2(LRRFIP1):c.1442C>T (p.Thr481Ile)	LRRFIP1 (T267I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293596	NM_001137550.2(LRRFIP1):c.1447G>C (p.Asp483His)	LRRFIP1 (D237H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521962	NM_001137550.2(LRRFIP1):c.1451G>A (p.Gly484Glu)	LRRFIP1 (G270E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241841	NM_001137550.2(LRRFIP1):c.1459+2437C>T	LRRFIP1 (A286V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360350	NM_001137550.2(LRRFIP1):c.1459+2580T>C	LRRFIP1 (F358L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379466	NM_001137550.2(LRRFIP1):c.1459+2655G>A	LRRFIP1 (E359K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121039	NM_001137550.2(LRRFIP1):c.1459+2719C>T	LRRFIP1 (P348L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121040	NM_001137550.2(LRRFIP1):c.1459+2725A>C	LRRFIP1 (E382A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252944	NM_001137550.2(LRRFIP1):c.1459+2738T>G	LRRFIP1 (C354W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121041	NM_001137550.2(LRRFIP1):c.1459+2767C>T	LRRFIP1 (T420I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121042	NM_001137550.2(LRRFIP1):c.1459+2842A>G	LRRFIP1 (H389R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121043	NM_001137550.2(LRRFIP1):c.1459+2863A>G	LRRFIP1 (H396R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121045	NM_001137550.2(LRRFIP1):c.1459+2907A>G	LRRFIP1 (S467G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121046	NM_001137550.2(LRRFIP1):c.1459+2967G>C	LRRFIP1 (V431L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121047	NM_001137550.2(LRRFIP1):c.1459+3019A>G	LRRFIP1 (E448G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297096	NM_001137550.2(LRRFIP1):c.1459+3051A>G	LRRFIP1 (K491E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286448	NM_001137550.2(LRRFIP1):c.1459+3111C>G	LRRFIP1 (P511A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291248	NM_001137550.2(LRRFIP1):c.1459+3139C>G	LRRFIP1 (P520R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342067	NM_001137550.2(LRRFIP1):c.1459+3144G>C	LRRFIP1 (D546H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121048	NM_001137550.2(LRRFIP1):c.1459+3149G>A	LRRFIP1 (M547I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237416	NM_001137550.2(LRRFIP1):c.1459+3264G>A	LRRFIP1 (E530K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496033	NM_001137550.2(LRRFIP1):c.1459+3279G>A	LRRFIP1 (V567I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121050	NM_001137550.2(LRRFIP1):c.1459+3309G>A	LRRFIP1 (D601N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652056	NM_001137550.2(LRRFIP1):c.1459+3380C>T	LRRFIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2598576	NM_001137550.2(LRRFIP1):c.1459+3428A>C	LRRFIP1 (E616D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537967	NM_001137550.2(LRRFIP1):c.1459+3445A>G	LRRFIP1 (E590G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602469	NM_001137550.2(LRRFIP1):c.1459+3466A>G	LRRFIP1 (D597G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369884	NM_001137550.2(LRRFIP1):c.1459+3574C>T	LRRFIP1 (P665L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652057	NM_001137550.2(LRRFIP1):c.1459+3611A>C	LRRFIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2360195	NM_001137550.2(LRRFIP1):c.1459+3750G>A	LRRFIP1 (E692K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526624	NM_001137550.2(LRRFIP1):c.1459+3763T>A	LRRFIP1 (M728K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551856	NM_001137550.2(LRRFIP1):c.1459+3771C>T	LRRFIP1 (H699Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368838	NM_001137550.2(LRRFIP1):c.1459+3816G>A	LRRFIP1 (E714K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557267	NM_001137550.2(LRRFIP1):c.1459+3830G>T	LRRFIP1 (L718F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256458	NM_001137550.2(LRRFIP1):c.1655T>C (p.Leu552Pro)	LRRFIP1 (L17P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242206	NM_001137550.2(LRRFIP1):c.1906C>T (p.Leu636Phe)	LRRFIP1 (L101F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148871	GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3	ASB1, COL6A3 +16 more	Copy number gain	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685885	GRCh37/hg19 2q37.3(chr2:238178706-239202040)x3	COL6A3, ERFE +13 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic

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