HPR[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 148076	GRCh38/hg38 16q22.2(chr16:72044363-72253331)x3	DHX38, HP +13 more	Copy number gain	See cases	GUncertain significance
Select item 15900	NC_000016.10:g.(?_72054504)_(?_72076977)del	HP, HPR	Deletion	Anhaptoglobinemia +1 more	GPathogenic; Affects
Select item 221526	GRCh38/hg38 16q22.2(chr16:72059151-72063259)x0	HP, HPR	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2346742	NM_020995.4(HPR):c.97C>G (p.Arg33Gly)	HPR (R33G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346741	NM_020995.4(HPR):c.101T>G (p.Phe34Cys)	HPR (F34C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2224727	NM_020995.4(HPR):c.104C>A (p.Pro35Gln)	HPR (P35Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474966	NM_020995.4(HPR):c.109C>A (p.Pro37Thr)	HPR (P37T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106807	NM_020995.4(HPR):c.115G>A (p.Glu39Lys)	HPR (E39K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314325	NM_020995.4(HPR):c.119T>C (p.Ile40Thr)	HPR (I40T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2227282	NM_020995.4(HPR):c.143T>C (p.Leu48Ser)	HPR (L48S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2227283	NM_020995.4(HPR):c.145T>G (p.Phe49Val)	HPR (F49V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2394955	NM_020995.4(HPR):c.148C>T (p.Arg50Cys)	HPR (R50C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106809	NM_020995.4(HPR):c.173G>C (p.Arg58Thr)	HPR (R58T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106808	NM_020995.4(HPR):c.173G>A (p.Arg58Lys)	HPR (R58K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2292287	NM_020995.4(HPR):c.178C>T (p.Arg60Cys)	HPR (R60C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213685	NM_020995.4(HPR):c.179G>A (p.Arg60His)	HPR (R60H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2529692	NM_020995.4(HPR):c.287A>G (p.Asn96Ser)	HPR (N96S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211476	NM_020995.4(HPR):c.298C>G (p.Pro100Ala)	HPR (P100A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 791062	NM_020995.4(HPR):c.390G>T (p.Gly130=)	HPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106810	NM_020995.4(HPR):c.443T>C (p.Leu148Pro)	HPR (L28P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241342	NM_020995.4(HPR):c.445A>C (p.Asn149His)	HPR (N149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224872	NM_020995.4(HPR):c.471A>T (p.Lys157Asn)	HPR (K157N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364735	NM_020995.4(HPR):c.476T>C (p.Ile159Thr)	HPR (I159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739000	NM_020995.4(HPR):c.534G>T (p.Val178=)	HPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106811	NM_020995.4(HPR):c.544C>G (p.Pro182Ala)	HPR (P182A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106812	NM_020995.4(HPR):c.553C>T (p.His185Tyr)	HPR (H65Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369572	NM_020995.4(HPR):c.554A>C (p.His185Pro)	HPR (H185P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602758	NM_020995.4(HPR):c.628C>T (p.Pro210Ser)	HPR (P210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368364	NM_020995.4(HPR):c.661G>T (p.Gly221Cys)	HPR (G101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294246	NM_020995.4(HPR):c.676T>G (p.Trp226Gly)	HPR (W226G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024688	NM_020995.4(HPR):c.704C>A (p.Thr235Asn)	HPR (T115N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2388043	NM_020995.4(HPR):c.748G>A (p.Asp250Asn)	HPR (D250N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477122	NM_020995.4(HPR):c.770G>A (p.Gly257Asp)	HPR (G137D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477005	NM_020995.4(HPR):c.820C>T (p.Pro274Ser)	HPR (P154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106813	NM_020995.4(HPR):c.823A>G (p.Ile275Val)	HPR (I155V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511766	NM_020995.4(HPR):c.850G>A (p.Gly284Ser)	HPR (G164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401109	NM_020995.4(HPR):c.860A>C (p.Lys287Thr)	HPR (K167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351815	NM_020995.4(HPR):c.893G>A (p.Gly298Asp)	HPR (G298D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106814	NM_020995.4(HPR):c.898G>A (p.Ala300Thr)	HPR (A180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106815	NM_020995.4(HPR):c.907G>A (p.Val303Ile)	HPR (V303I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205108	NM_020995.4(HPR):c.938C>T (p.Ala313Val)	HPR (A313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342424	NM_020995.4(HPR):c.940G>A (p.Ala314Thr)	HPR (A194T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768788	NM_020995.4(HPR):c.949C>T (p.Leu317=)	HPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2216526	NM_020995.4(HPR):c.970G>T (p.Ala324Ser)	HPR (A324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456863	NM_020995.4(HPR):c.973G>A (p.Val325Met)	HPR (V205M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768789	NM_020995.4(HPR):c.1015C>G (p.His339Asp)	HPR (H339D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1809158	GRCh37/hg19 16q22.2(chr16:71799420-72372326)x1	AP1G1, ATXN1L +9 more	Copy number loss	not provided	GUncertain significance
Select item 1809139	GRCh37/hg19 16q22.2(chr16:71422334-72110927)x4	AP1G1, ATXN1L +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 564341	GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1	TAT, PHLPP2 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395554	GRCh37/hg19 16q22.2(chr16:72093025-72110913)x3	HP, HPR	Copy number gain	See cases	GBenign
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394906	GRCh37/hg19 16q22.2(chr16:72093025-72119382)x3	HP, HPR +1 more	Copy number gain	See cases	GBenign
Select item 394173	GRCh37/hg19 16q22.2(chr16:72107854-72110913)x3	HPR	Copy number gain	See cases	GBenign
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 86