5181[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 3257018	NM_000412.5(HRG):c.48G>A (p.Ser16=)	HRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367592	NM_000412.5(HRG):c.62C>T (p.Pro21Leu)	HRG (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676737	NM_000412.5(HRG):c.72C>A (p.Cys24Ter)	HRG (C24*)	Single nucleotide variant (nonsense)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 3041300	NM_000412.5(HRG):c.81T>C (p.Val27=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 453207	NM_000412.5(HRG):c.99del (p.Ala34fs)	HRG (A34fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 809578	NM_000412.5(HRG):c.117T>C (p.Asn39=)	HRG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3026343	NM_000412.5(HRG):c.125G>T (p.Arg42Leu)	HRG (R42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809579	NM_000412.5(HRG):c.125G>A (p.Arg42Gln)	HRG (R42Q)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3068870	NM_000412.5(HRG):c.167C>T (p.Ala56Val)	HRG (A56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284779	NM_000412.5(HRG):c.178A>G (p.Arg60Gly)	HRG (R60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234952	NM_000412.5(HRG):c.184-11G>T	HRG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2334460	NM_000412.5(HRG):c.202T>C (p.Tyr68His)	HRG, LOC126806897 (Y68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780110	NM_000412.5(HRG):c.204C>T (p.Tyr68=)	HRG, LOC126806897	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064475	NM_000412.5(HRG):c.227C>T (p.Ser76Leu)	HRG, LOC126806897 (S76L)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GUncertain significance
Select item 2654336	NM_000412.5(HRG):c.236C>G (p.Ser79Trp)	HRG, LOC126806897 (S79W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 156902	Single allele	HRG, LOC126806897	Deletion	Normal pregnancy	Gnot provided
Select item 440913	NM_000412.5(HRG):c.271C>T (p.Pro91Ser)	HRG, HRG-AS1 +1 more (P91S)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 786027	NM_000412.5(HRG):c.306C>T (p.Ile102=)	HRG, LOC126806897	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2282849	NM_000412.5(HRG):c.307G>A (p.Gly103Arg)	HRG, LOC126806897 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14914	NM_000412.5(HRG):c.308G>A (p.Gly103Glu)	HRG, HRG-AS1 +1 more (G103E)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GPathogenic
Select item 3065603	NM_000412.5(HRG):c.372del (p.Phe124fs)	HRG, LOC126806897 (F124fs)	Deletion (frameshift variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 2581309	NM_000412.5(HRG):c.392-3C>T	HRG, HRG-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 720919	NM_000412.5(HRG):c.393C>A (p.Val131=)	HRG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491452	NM_000412.5(HRG):c.400G>A (p.Ala134Thr)	HRG (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545803	NM_000412.5(HRG):c.415A>G (p.Lys139Glu)	HRG (K139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372746	NM_000412.5(HRG):c.418G>T (p.Asp140Tyr)	HRG (D140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106948	NM_000412.5(HRG):c.419A>T (p.Asp140Val)	HRG (D140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809582	NM_000412.5(HRG):c.439T>A (p.Phe147Ile)	HRG (F147I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504898	NM_000412.5(HRG):c.472G>A (p.Ala158Thr)	HRG, HRG-AS1 (A158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059025	NM_000412.5(HRG):c.539T>C (p.Ile180Thr)	HRG (I180T)	Single nucleotide variant (missense variant)	HRG-related disorder	GBenign
Select item 2507636	NM_000412.5(HRG):c.541G>C (p.Glu181Gln)	HRG (E181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809583	NM_000412.5(HRG):c.548T>C (p.Val183Ala)	HRG (V183A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2243271	NM_000412.5(HRG):c.550G>A (p.Ala184Thr)	HRG (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556537	NM_000412.5(HRG):c.572G>A (p.Gly191Glu)	HRG (G191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712515	NM_000412.5(HRG):c.598G>T (p.Val200Leu)	HRG (V200L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1285353	NM_000412.5(HRG):c.610C>T (p.Pro204Ser)	HRG (P204S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3106950	NM_000412.5(HRG):c.659C>A (p.Ala220Glu)	HRG (A220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597883	NM_000412.5(HRG):c.669C>G (p.Phe223Leu)	HRG (F223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769621	NM_000412.5(HRG):c.701C>T (p.Pro234Leu)	HRG (P234L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 809585	NM_000412.5(HRG):c.723_724del (p.Cys241_Glu242delinsTer)	HRG	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 2654337	NM_000412.5(HRG):c.732C>T (p.Phe244=)	HRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472049	NM_000412.5(HRG):c.733G>C (p.Asp245His)	HRG (D245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1303235	NM_000412.5(HRG):c.733G>A (p.Asp245Asn)	HRG (D245N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2372747	NM_000412.5(HRG):c.735C>A (p.Asp245Glu)	HRG (D245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284780	NM_000412.5(HRG):c.736C>T (p.Pro246Ser)	HRG (P246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684325	NM_000412.5(HRG):c.736C>A (p.Pro246Thr)	HRG (P246T)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 1684328	NM_000412.5(HRG):c.745C>T (p.His249Tyr)	HRG (H249Y)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 2518981	NM_000412.5(HRG):c.758A>G (p.Asn253Ser)	HRG (N253S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284781	NM_000412.5(HRG):c.766C>T (p.Pro256Ser)	HRG (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044023	NM_000412.5(HRG):c.770C>T (p.Pro257Leu)	HRG (P257L)	Single nucleotide variant (missense variant)	HRG-related disorder	GBenign
Select item 3284782	NM_000412.5(HRG):c.796G>T (p.Gly266Cys)	HRG (G266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363392	NM_000412.5(HRG):c.809G>A (p.Arg270His)	HRG (R270H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3058193	NM_000412.5(HRG):c.822C>G (p.Thr274=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 769622	NM_000412.5(HRG):c.849T>C (p.Ser283=)	HRG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769623	NM_000412.5(HRG):c.854ATC[3] (p.His288del)	HRG (H288del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3054255	NM_000412.5(HRG):c.863A>T (p.His288Leu)	HRG (H288L)	Single nucleotide variant (missense variant)	HRG-related disorder	GLikely benign
Select item 1216073	NM_000412.5(HRG):c.868del (p.His290fs)	HRG (H290fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 714985	NM_000412.5(HRG):c.880G>T (p.Glu294Ter)	HRG (E294*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 714986	NM_000412.5(HRG):c.881A>C (p.Glu294Ala)	HRG (E294A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2307637	NM_000412.5(HRG):c.920C>T (p.Ser307Leu)	HRG (S307L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1684326	NM_000412.5(HRG):c.946C>T (p.Pro316Ser)	HRG (P316S)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 712516	NM_000412.5(HRG):c.952C>T (p.Pro318Ser)	HRG (P318S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769624	NM_000412.5(HRG):c.962C>T (p.Pro321Leu)	HRG (P321L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3284777	NM_000412.5(HRG):c.964A>G (p.Met322Val)	HRG (M322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555333	NM_000412.5(HRG):c.1004A>G (p.Asn335Ser)	HRG (N335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234954	NM_000412.5(HRG):c.1009G>A (p.Ala337Thr)	HRG (A337T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3056147	NM_000412.5(HRG):c.1019A>G (p.His340Arg)	HRG (H340R)	Single nucleotide variant (missense variant)	HRG-related disorder	GBenign
Select item 712517	NM_000412.5(HRG):c.1051C>A (p.Pro351Thr)	HRG (P351T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3055623	NM_000412.5(HRG):c.1173T>C (p.Pro391=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 2654338	NM_000412.5(HRG):c.1185_1214del (p.383GHHPH[3])	HRG	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3106943	NM_000412.5(HRG):c.1184A>T (p.His395Leu)	HRG (H395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234209	NM_000412.5(HRG):c.1191TGGACACCATCCCCA[1] (p.383GHHPH[4])	HRG	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3106944	NM_000412.5(HRG):c.1200T>A (p.His400Gln)	HRG (H400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 74988	NM_000412.5(HRG):c.1234C>T (p.Gln412Ter)	HRG (Q412*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2597597	NM_000412.5(HRG):c.1256C>T (p.Pro419Leu)	HRG (P419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106945	NM_000412.5(HRG):c.1274G>A (p.Gly425Asp)	HRG (G425D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301290	NM_000412.5(HRG):c.1289G>C (p.Gly430Ala)	HRG (G430A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284778	NM_000412.5(HRG):c.1293C>A (p.His431Gln)	HRG (H431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468862	NM_000412.5(HRG):c.1301C>T (p.Pro434Leu)	HRG (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809589	NM_000412.5(HRG):c.1306G>A (p.Gly436Arg)	HRG (G436R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2217172	NM_000412.5(HRG):c.1322G>A (p.Arg441Gln)	HRG (R441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691305	NM_000412.5(HRG):c.1325G>A (p.Gly442Asp)	HRG (G442D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285354	NM_000412.5(HRG):c.1342C>T (p.Arg448Cys)	HRG (R448C)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GBenign
Select item 3106946	NM_000412.5(HRG):c.1352A>G (p.His451Arg)	HRG (H451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033259	NM_000412.5(HRG):c.1368A>G (p.Gly456=)	HRG	Single nucleotide variant (synonymous variant)	HRG-related disorder	GLikely benign
Select item 809590	NM_000412.5(HRG):c.1379G>A (p.Arg460Gln)	HRG (R460Q)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely benign

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