HRH4[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 60206	GRCh38/hg38 18q11.2(chr18:24411993-26628123)x3	LINC01894, LINC01915 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3284788	NM_021624.4(HRH4):c.41C>T (p.Thr14Ile)	HRH4 (T14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546422	NM_021624.4(HRH4):c.43C>T (p.Arg15Cys)	HRH4 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106962	NM_021624.4(HRH4):c.130A>G (p.Lys44Glu)	HRH4 (K44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322702	NM_021624.4(HRH4):c.226A>G (p.Thr76Ala)	HRH4 (T76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106963	NM_021624.4(HRH4):c.227C>G (p.Thr76Arg)	HRH4 (T76R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374883	NM_021624.4(HRH4):c.227C>T (p.Thr76Met)	HRH4 (T76M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3284786	NM_021624.4(HRH4):c.277A>G (p.Thr93Ala)	HRH4 (T93A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520569	NM_021624.4(HRH4):c.325A>G (p.Ser109Gly)	HRH4 (S109G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284787	NM_021624.4(HRH4):c.344C>T (p.Ser115Leu)	HRH4 (S115L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277585	NM_021624.4(HRH4):c.349T>A (p.Ser117Thr)	HRH4 (S117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106964	NM_021624.4(HRH4):c.375A>C (p.Gln125His)	HRH4 (Q125H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2356313	NM_021624.4(HRH4):c.427G>A (p.Ala143Thr)	HRH4 (A143T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2236728	NM_021624.4(HRH4):c.455T>G (p.Leu152Arg)	HRH4 (L152R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3106965	NM_021624.4(HRH4):c.481G>A (p.Gly161Ser)	HRH4 (G73S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106966	NM_021624.4(HRH4):c.567A>T (p.Leu189Phe)	HRH4 (L101F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529090	NM_021624.4(HRH4):c.652G>T (p.Ala218Ser)	HRH4 (A130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2544981	NM_021624.4(HRH4):c.827T>G (p.Met276Arg)	HRH4 (M276R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603458	NM_021624.4(HRH4):c.934T>G (p.Phe312Val)	HRH4 (F224V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291287	NM_021624.4(HRH4):c.1025T>C (p.Ile342Thr)	HRH4 (I342T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408337	NM_021624.4(HRH4):c.1064C>T (p.Pro355Leu)	HRH4 (P355L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106961	NM_021624.4(HRH4):c.1070T>G (p.Leu357Trp)	HRH4 (L357W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617373	NM_021624.4(HRH4):c.1102G>A (p.Ala368Thr)	HRH4 (A280T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284790	NM_021624.4(HRH4):c.1116A>G (p.Ile372Met)	HRH4 (I372M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488262	NM_021624.4(HRH4):c.1121G>T (p.Cys374Phe)	HRH4 (C374F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 564547	GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1	HRH4, ZNF521 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 253792	GRCh37/hg19 18q11.2(chr18:21430733-22265398)x3	OSBPL1A, HRH4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 59