ClinVar for Gene (Select 5284) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306510	NM_002644.4(PIGR):c.1957G>T (p.Val653Leu)	PIGR (V653L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3212831	NM_002644.4(PIGR):c.832A>T (p.Asn278Tyr)	PIGR (N278Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212829	NM_002644.4(PIGR):c.634C>G (p.Leu212Val)	PIGR (L212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212828	NM_002644.4(PIGR):c.2081C>A (p.Ala694Asp)	PIGR (A694D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212827	NM_002644.4(PIGR):c.1645G>A (p.Gly549Ser)	PIGR (G549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212826	NM_002644.4(PIGR):c.145C>T (p.Arg49Trp)	PIGR (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212825	NM_002644.4(PIGR):c.1306G>A (p.Ala436Thr)	PIGR (A436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212824	NM_002644.4(PIGR):c.116C>T (p.Thr39Met)	PIGR (T39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212823	NM_002644.4(PIGR):c.1139G>A (p.Ser380Asn)	PIGR (S380N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212822	NM_002644.4(PIGR):c.1079A>C (p.Lys360Thr)	PIGR (K360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212821	NM_002644.4(PIGR):c.1000C>A (p.Gln334Lys)	PIGR (Q334K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639867	NM_002644.4(PIGR):c.639C>T (p.Ser213=)	PIGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639866	NM_002644.4(PIGR):c.1138A>G (p.Ser380Gly)	PIGR (S380G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2595945	NM_002644.4(PIGR):c.617T>C (p.Val206Ala)	PIGR (V206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570074	NM_002644.4(PIGR):c.1168G>T (p.Ala390Ser)	PIGR (A390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560643	NM_002644.4(PIGR):c.2257G>A (p.Val753Met)	PIGR (V753M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540514	NM_002644.4(PIGR):c.1978G>A (p.Val660Met)	PIGR (V660M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531757	NM_002644.4(PIGR):c.1228G>A (p.Glu410Lys)	PIGR (E410K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531377	NM_002644.4(PIGR):c.1655A>G (p.Tyr552Cys)	PIGR (Y552C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524076	NM_002644.4(PIGR):c.1561G>A (p.Asp521Asn)	PIGR (D521N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478742	NM_002644.4(PIGR):c.639C>A (p.Ser213Arg)	PIGR (S213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469544	NM_002644.4(PIGR):c.1600G>A (p.Val534Met)	PIGR (V534M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2384626	NM_002644.4(PIGR):c.28C>G (p.Leu10Val)	PIGR (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383836	NM_002644.4(PIGR):c.1654T>C (p.Tyr552His)	PIGR (Y552H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381664	NM_002644.4(PIGR):c.320G>A (p.Arg107His)	PIGR (R107H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380865	NM_002644.4(PIGR):c.613G>A (p.Val205Ile)	PIGR (V205I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380085	NM_002644.4(PIGR):c.805T>C (p.Phe269Leu)	PIGR (F269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374017	NM_002644.4(PIGR):c.1076T>C (p.Val359Ala)	PIGR (V359A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334947	NM_002644.4(PIGR):c.220G>A (p.Val74Ile)	PIGR (V74I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327369	NM_002644.4(PIGR):c.1181G>A (p.Arg394His)	PIGR (R394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306461	NM_002644.4(PIGR):c.796G>A (p.Val266Met)	PIGR (V266M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273333	NM_002644.4(PIGR):c.1264G>A (p.Gly422Ser)	PIGR (G422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263830	NM_002644.4(PIGR):c.53C>T (p.Thr18Met)	PIGR (T18M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258148	NM_002644.4(PIGR):c.1058C>T (p.Pro353Leu)	PIGR (P353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245923	NM_002644.4(PIGR):c.397C>A (p.Leu133Ile)	PIGR (L133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228965	NM_002644.4(PIGR):c.1676A>C (p.Tyr559Ser)	PIGR (Y559S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207703	NM_002644.4(PIGR):c.383G>T (p.Ser128Ile)	PIGR (S128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	C1orf116, C4BPA +19 more	Duplication	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1283436	NM_002644.4(PIGR):c.1093G>A (p.Gly365Ser)	PIGR (G365S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1244747	NM_002644.4(PIGR):c.1046-4C>T	PIGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 443302	GRCh37/hg19 1q32.1-32.2(chr1:206961307-207252090)x1	C1orf116, FCAMR +7 more	Copy number loss	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 13526	NM_002644.4(PIGR):c.1739C>T (p.Ala580Val)	PIGR (A580V)	Single nucleotide variant (missense variant)	IgA glomerulonephritis	GUncertain significance

ClinVar

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Links from Gene

Items: 59