5184[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	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 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 782631	NM_007232.3(HRH3):c.1215G>A (p.Ser405=)	HRH3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3106955	NM_007232.3(HRH3):c.1154A>G (p.His385Arg)	HRH3 (H385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786973	NM_007232.3(HRH3):c.1032C>T (p.Phe344=)	HRH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2274210	NM_007232.3(HRH3):c.1006C>T (p.Arg336Cys)	HRH3 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347414	NM_007232.3(HRH3):c.982G>T (p.Ala328Ser)	HRH3 (A328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547028	NM_007232.3(HRH3):c.935G>A (p.Arg312Lys)	HRH3 (R312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470325	NM_007232.3(HRH3):c.922G>A (p.Gly308Ser)	HRH3 (G308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554164	NM_007232.3(HRH3):c.914C>T (p.Ser305Phe)	HRH3 (S305F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106960	NM_007232.3(HRH3):c.911C>T (p.Thr304Ile)	HRH3 (T304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373350	NM_007232.3(HRH3):c.874G>A (p.Gly292Arg)	HRH3 (G292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229528	NM_007232.3(HRH3):c.857C>A (p.Ala286Asp)	HRH3 (A286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480447	NM_007232.3(HRH3):c.851C>T (p.Ala284Val)	HRH3 (A284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672885	NM_007232.3(HRH3):c.798C>T (p.His266=)	HRH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106959	NM_007232.3(HRH3):c.770G>C (p.Gly257Ala)	HRH3 (G257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459975	NM_007232.3(HRH3):c.739G>A (p.Glu247Lys)	HRH3 (E247K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106958	NM_007232.3(HRH3):c.731C>T (p.Pro244Leu)	HRH3 (P244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280928	NM_007232.3(HRH3):c.710G>A (p.Arg237Gln)	HRH3 (R237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590315	NM_007232.3(HRH3):c.706G>T (p.Ala236Ser)	HRH3 (A236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106957	NM_007232.3(HRH3):c.694C>T (p.Arg232Trp)	HRH3 (R232W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228119	NM_007232.3(HRH3):c.602C>T (p.Thr201Met)	HRH3 (T201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106956	NM_007232.3(HRH3):c.446C>T (p.Thr149Met)	HRH3 (T149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652470	NM_007232.3(HRH3):c.306C>T (p.Phe102=)	HRH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769099	NM_007232.3(HRH3):c.246C>T (p.Leu82=)	HRH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2384698	NM_007232.3(HRH3):c.65C>T (p.Ala22Val)	HRH3 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470566	NM_007232.3(HRH3):c.20A>T (p.Asp7Val)	HRH3 (D7V)	Single nucleotide variant (missense variant)	not specified	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47