AMPH[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 152311	GRCh38/hg38 7p14.1(chr7:38208739-38687927)x3	AMPH, LOC123956136 +46 more	Copy number gain	See cases	GLikely benign
Select item 3116974	NM_001635.4(AMPH):c.1784A>G (p.Gln595Arg)	AMPH (Q553R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711336	NM_001635.4(AMPH):c.1757C>T (p.Thr586Met)	AMPH (T586M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2301156	NM_001635.4(AMPH):c.1710G>C (p.Glu570Asp)	AMPH (E570D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458984	NM_001635.4(AMPH):c.1702A>T (p.Thr568Ser)	AMPH (T526S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116965	NM_001635.4(AMPH):c.1672G>A (p.Glu558Lys)	AMPH (E516K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482407	NM_001635.4(AMPH):c.1636G>C (p.Glu546Gln)	AMPH (E504Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219267	NM_001635.4(AMPH):c.1625C>T (p.Ser542Leu)	AMPH (S500L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116954	NM_001635.4(AMPH):c.1580C>G (p.Ala527Gly)	AMPH (A527G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411679	NM_001635.4(AMPH):c.1545A>C (p.Glu515Asp)	AMPH (E473D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758131	NM_001635.4(AMPH):c.1482G>A (p.Ala494=)	AMPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731328	NM_001635.4(AMPH):c.1450G>T (p.Ala484Ser)	AMPH (A484S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2314829	NM_001635.4(AMPH):c.1370G>A (p.Arg457Gln)	AMPH (R457Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2598711	NM_001635.4(AMPH):c.1369C>T (p.Arg457Trp)	AMPH (R457W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374010	NM_001635.4(AMPH):c.1366A>G (p.Thr456Ala)	AMPH (T456A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116944	NM_001635.4(AMPH):c.1342G>A (p.Val448Ile)	AMPH (V448I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116939	NM_001635.4(AMPH):c.1208T>C (p.Phe403Ser)	AMPH (F403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116934	NM_001635.4(AMPH):c.1193G>T (p.Gly398Val)	AMPH (G398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747696	NM_001635.4(AMPH):c.1158+9C>T	AMPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723805	NM_001635.4(AMPH):c.1157C>T (p.Thr386Met)	AMPH (T386M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 776216	NM_001635.4(AMPH):c.1128G>C (p.Met376Ile)	AMPH (M376I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2250569	NM_001635.4(AMPH):c.1084G>A (p.Glu362Lys)	AMPH (E362K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786899	NM_001635.4(AMPH):c.1017+10T>C	AMPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 763876	NM_001635.4(AMPH):c.1014C>A (p.Ser338=)	AMPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299123	NM_001635.4(AMPH):c.913C>A (p.Pro305Thr)	AMPH (P305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117010	NM_001635.4(AMPH):c.859G>A (p.Ala287Thr)	AMPH (A287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727314	NM_001635.4(AMPH):c.852G>A (p.Ala284=)	AMPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614543	NM_001635.4(AMPH):c.851C>T (p.Ala284Val)	AMPH (A284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334079	NM_001635.4(AMPH):c.812C>T (p.Pro271Leu)	AMPH (P271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742747	NM_001635.4(AMPH):c.780A>G (p.Thr260=)	AMPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117002	NM_001635.4(AMPH):c.766C>A (p.Arg256Ser)	AMPH (R256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327117	NM_001635.4(AMPH):c.715G>T (p.Ala239Ser)	AMPH (A239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540941	NM_001635.4(AMPH):c.709C>A (p.Gln237Lys)	AMPH (Q237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116996	NM_001635.4(AMPH):c.704G>A (p.Gly235Asp)	AMPH (G235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551435	NM_001635.4(AMPH):c.625G>A (p.Val209Ile)	AMPH (V209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116989	NM_001635.4(AMPH):c.532A>G (p.Lys178Glu)	AMPH (K178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533317	NM_001635.4(AMPH):c.521A>G (p.Gln174Arg)	AMPH (Q174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409649	NM_001635.4(AMPH):c.275G>A (p.Arg92Gln)	AMPH (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722907	NM_001635.4(AMPH):c.142C>T (p.Arg48Trp)	AMPH (R48W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657388	NM_001635.4(AMPH):c.57C>G (p.Arg19=)	AMPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606399	NM_001635.4(AMPH):c.28G>A (p.Ala10Thr)	AMPH (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293019	NM_001635.4(AMPH):c.22A>G (p.Ile8Val)	AMPH (I8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 979759	GRCh37/hg19 7p14.1(chr7:38357074-38481296)x1	AMPH	Copy number loss	not provided	GUncertain significance
Select item 814960	GRCh37/hg19 7p14.1(chr7:38559831-38733061)x1	AMPH	Copy number loss	not provided	GUncertain significance
Select item 814958	GRCh37/hg19 7p14.1(chr7:37202606-39500521)x3	ELMO1, AMPH +8 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442557	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 441054	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	not provided	Gnot provided
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 67