20790[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 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 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	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 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 58914	GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	ATG4B, BOK +56 more	Copy number loss	See cases	GPathogenic
Select item 144757	GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1	ATG4B, BOK +44 more	Copy number loss	See cases	GUncertain significance
Select item 144361	GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3	ATG4B, BOK +39 more	Copy number gain	See cases	GUncertain significance
Select item 153126	GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1	ATG4B, BOK +32 more	Copy number loss	See cases	GUncertain significance
Select item 57280	GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1	ATG4B, D2HGDH +29 more	Copy number loss	See cases	GUncertain significance
Select item 2347677	NM_013325.5(ATG4B):c.35G>A (p.Arg12Gln)	ATG4B (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130993	NM_013325.5(ATG4B):c.59C>G (p.Pro20Arg)	ATG4B (P20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387013	NM_013325.5(ATG4B):c.63G>C (p.Glu21Asp)	ATG4B (E21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130994	NM_013325.5(ATG4B):c.76G>A (p.Val26Ile)	ATG4B (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787165	NM_013325.5(ATG4B):c.112+5C>T	ATG4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2619731	NM_013325.5(ATG4B):c.121G>A (p.Glu41Lys)	ATG4B (E41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306546	NM_013325.5(ATG4B):c.124A>G (p.Ile42Val)	ATG4B (I42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130987	NM_013325.5(ATG4B):c.185G>T (p.Gly62Val)	ATG4B (G62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545702	NM_013325.5(ATG4B):c.230G>A (p.Arg77Gln)	ATG4B (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377646	NM_013325.5(ATG4B):c.268C>T (p.Arg90Trp)	ATG4B (R90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130988	NM_013325.5(ATG4B):c.274C>A (p.Leu92Ile)	ATG4B (L92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613395	NM_013325.5(ATG4B):c.319A>G (p.Ser107Gly)	ATG4B (S107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130989	NM_013325.5(ATG4B):c.330C>G (p.Ser110Arg)	ATG4B (S110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593086	NM_013325.5(ATG4B):c.338A>G (p.Asn113Ser)	ATG4B (N113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275520	NM_013325.5(ATG4B):c.508A>G (p.Met170Val)	ATG4B (M170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130990	NM_013325.5(ATG4B):c.524T>G (p.Val175Gly)	ATG4B (V175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652115	NM_013325.5(ATG4B):c.539-8C>T	ATG4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3130991	NM_013325.5(ATG4B):c.563C>T (p.Pro188Leu)	ATG4B (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130992	NM_013325.5(ATG4B):c.583T>G (p.Phe195Val)	ATG4B (F195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384237	NM_013325.5(ATG4B):c.598G>A (p.Asp200Asn)	ATG4B (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611067	NM_013325.5(ATG4B):c.601C>T (p.Arg201Trp)	ATG4B (R201W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373094	NM_013325.5(ATG4B):c.607T>A (p.Cys203Ser)	ATG4B (C203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463021	NM_013325.5(ATG4B):c.623C>G (p.Ala208Gly)	ATG4B (A208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376946	NM_013325.5(ATG4B):c.641A>T (p.Asn214Ile)	ATG4B (N214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624168	NM_013325.5(ATG4B):c.647C>T (p.Pro216Leu)	ATG4B (P216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336517	NM_013325.5(ATG4B):c.683T>G (p.Leu228Arg)	ATG4B (L228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559646	NM_013325.5(ATG4B):c.709G>A (p.Glu237Lys)	ATG4B (E237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569078	NM_013325.5(ATG4B):c.898C>T (p.His300Tyr)	ATG4B (H300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383969	NM_013325.5(ATG4B):c.911C>T (p.Pro304Leu)	ATG4B (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553405	NM_013325.5(ATG4B):c.932C>T (p.Ala311Val)	ATG4B (A311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570487	NM_013325.5(ATG4B):c.952G>A (p.Ala318Thr)	ATG4B (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261704	NM_013325.5(ATG4B):c.989A>T (p.Asn330Ile)	ATG4B (N330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652116	NM_013325.5(ATG4B):c.1017G>A (p.Leu339=)	ATG4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617056	NM_013325.5(ATG4B):c.1121T>C (p.Val374Ala)	ATG4B (V374A)	Single nucleotide variant (missense variant +1 more)	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 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	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 3062657	GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not specified	GUncertain significance
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 2685891	GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3	ATG4B, D2HGDH +4 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
Select item 1808495	GRCh37/hg19 2q37.3(chr2:242379032-242783384)x1	ATG4B, BOK +8 more	Copy number loss	not provided	GUncertain significance
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1807573	GRCh37/hg19 2q37.3(chr2:242533423-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	AQP12A, AGXT +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	ACKR3, AGAP1 +59 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic

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