HRH3[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +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 3284784	NM_007232.3(HRH3):c.640G>A (p.Val214Ile)	HRH3 (V214I)	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 3284785	NM_007232.3(HRH3):c.460C>T (p.Arg154Trp)	HRH3 (R154W)	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)	AAR2, ABHD12 +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

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Items: 49