ADRM1[gene] - ClinVar

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Items: 50

	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 2284053	NM_007002.4(ADRM1):c.97C>A (p.Leu33Met)	ADRM1 (L33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722428	NM_007002.4(ADRM1):c.159C>G (p.Asp53Glu)	ADRM1 (D53E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091108	NM_007002.4(ADRM1):c.204C>A (p.Asn68Lys)	ADRM1 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091113	NM_007002.4(ADRM1):c.358C>T (p.His120Tyr)	ADRM1 (H81Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338886	NM_007002.4(ADRM1):c.376G>A (p.Glu126Lys)	ADRM1 (E87K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515263	NM_007002.4(ADRM1):c.526G>A (p.Gly176Ser)	ADRM1 (G137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495973	NM_007002.4(ADRM1):c.580T>A (p.Leu194Ile)	ADRM1 (L155I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161653	NM_007002.4(ADRM1):c.653C>A (p.Pro218Gln)	ADRM1 (P218Q +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2547717	NM_007002.4(ADRM1):c.668C>T (p.Ser223Phe)	ADRM1 (S223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610952	NM_007002.4(ADRM1):c.674C>T (p.Thr225Ile)	ADRM1 (T225I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273966	NM_007002.4(ADRM1):c.676C>T (p.Arg226Cys)	ADRM1 (R187C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273975	NM_007002.4(ADRM1):c.730C>T (p.Pro244Ser)	ADRM1 (P205S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777606	NM_007002.4(ADRM1):c.735G>A (p.Ala245=)	ADRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777607	NM_007002.4(ADRM1):c.798C>T (p.Asp266=)	ADRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558572	NM_007002.4(ADRM1):c.818C>T (p.Thr273Met)	ADRM1 (T273M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091134	NM_007002.4(ADRM1):c.839C>T (p.Pro280Leu)	ADRM1 (P241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544898	NM_007002.4(ADRM1):c.881C>T (p.Pro294Leu)	ADRM1 (P255L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787497	NM_007002.4(ADRM1):c.945A>G (p.Pro315=)	ADRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3091140	NM_007002.4(ADRM1):c.970G>A (p.Ala324Thr)	ADRM1 (A324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790289	NM_007002.4(ADRM1):c.971C>T (p.Ala324Val)	ADRM1 (A324V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2264034	NM_007002.4(ADRM1):c.1174G>A (p.Gly392Ser)	ADRM1 (G353S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223629	NM_007002.4(ADRM1):c.1199A>G (p.Glu400Gly)	ADRM1 (E361G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299079	NM_007002.4(ADRM1):c.1210A>G (p.Met404Val)	ADRM1 (M365V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248249	NC_000020.10:g.(?_60831241)_(62051045_?)dup	ADRM1, ARFGAP1 +27 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2427290	NC_000020.10:g.(?_60854193)_(60886170_?)dup	ADRM1, LAMA5 +1 more	Duplication	not provided	GUncertain significance
Select item 2427289	NC_000020.10:g.(?_60861619)_(60890283_?)dup	ADRM1, LAMA5 +1 more	Duplication	not provided	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	MRGBP, NKAIN4 +49 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564619	GRCh37/hg19 20q13.33(chr20:60691126-60920798)x3	MTG2, LAMA5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 221406	GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1	ADRM1, ARFGAP1 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50