HRH1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 155031	GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1	ATP2B2, ATP2B2-IT1 +36 more	Copy number loss	See cases	GUncertain significance
Select item 733135	NM_001098212.2(HRH1):c.42G>A (p.Met14Ile)	HRH1 (M14I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790260	NM_001098212.2(HRH1):c.57G>C (p.Lys19Asn)	HRH1 (K19N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3106952	NM_001098212.2(HRH1):c.65T>C (p.Met22Thr)	HRH1 (M22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478922	NM_001098212.2(HRH1):c.163G>A (p.Glu55Lys)	HRH1 (E55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540198	NM_001098212.2(HRH1):c.214G>A (p.Ala72Thr)	HRH1 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106951	NM_001098212.2(HRH1):c.242T>C (p.Met81Thr)	HRH1 (M81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275427	NM_001098212.2(HRH1):c.581C>G (p.Thr194Ser)	HRH1 (T194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459465	NM_001098212.2(HRH1):c.670C>T (p.Arg224Trp)	HRH1 (R224W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708387	NM_001098212.2(HRH1):c.977G>A (p.Arg326Gln)	HRH1 (R326Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3284783	NM_001098212.2(HRH1):c.983A>G (p.His328Arg)	HRH1 (H328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773670	NM_001098212.2(HRH1):c.1045G>C (p.Asp349His)	HRH1 (D349H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2517986	NM_001098212.2(HRH1):c.1067A>G (p.Gln356Arg)	HRH1 (Q356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342397	NM_001098212.2(HRH1):c.1337A>G (p.Asn446Ser)	HRH1 (N446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653536	NC_000003.12:g.11271763G>A	ATG7, HRH1	Single nucleotide variant	not provided	GLikely benign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807689	GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1	ATG7, ATP2B2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340006	GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1	ATG7, HRH1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1339872	GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1	TIMP4, VGLL4 +6 more	Copy number loss	Schizophrenia	Gnot provided
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic

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Items: 49