PYHIN1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 2485818	NM_152501.5(PYHIN1):c.109C>T (p.Pro37Ser)	PYHIN1 (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150238	NM_152501.5(PYHIN1):c.349C>T (p.Pro117Ser)	LOC126805885, PYHIN1 (P108S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150239	NM_152501.5(PYHIN1):c.370C>G (p.Arg124Gly)	LOC126805885, PYHIN1 (R115G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216902	NM_152501.5(PYHIN1):c.423A>C (p.Lys141Asn)	LOC126805885, PYHIN1 (K141N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347396	NM_152501.5(PYHIN1):c.506C>T (p.Thr169Met)	LOC126805885, PYHIN1 (T169M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364090	NM_152501.5(PYHIN1):c.521G>A (p.Gly174Asp)	LOC126805885, PYHIN1 (G174D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407051	NM_152501.5(PYHIN1):c.524G>T (p.Arg175Leu)	LOC126805885, PYHIN1 (R175L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345223	NM_152501.5(PYHIN1):c.547T>C (p.Ser183Pro)	LOC126805885, PYHIN1 (S183P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407311	NM_152501.5(PYHIN1):c.581G>A (p.Ser194Asn)	PYHIN1 (S185N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 161854	NM_152501.5(PYHIN1):c.602G>A (p.Arg201His)	PYHIN1 (R192H +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2204160	NM_152501.5(PYHIN1):c.632G>A (p.Arg211Gln)	PYHIN1 (R202Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280969	NM_152501.5(PYHIN1):c.649G>A (p.Ala217Thr)	PYHIN1 (A208T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604215	NM_152501.5(PYHIN1):c.728T>C (p.Val243Ala)	PYHIN1 (V234A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529206	NM_152501.5(PYHIN1):c.799A>G (p.Arg267Gly)	PYHIN1 (R267G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231609	NM_152501.5(PYHIN1):c.801A>T (p.Arg267Ser)	PYHIN1 (R258S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150240	NM_152501.5(PYHIN1):c.830G>A (p.Arg277His)	PYHIN1 (R268H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265722	NM_152501.5(PYHIN1):c.941T>A (p.Ile314Asn)	PYHIN1 (I305N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030527	NM_152501.5(PYHIN1):c.991A>T (p.Met331Leu)	PYHIN1 (M322L +1 more)	Single nucleotide variant (missense variant)	PYHIN1-related disorder	GUncertain significance
Select item 3150241	NM_152501.5(PYHIN1):c.993G>A (p.Met331Ile)	PYHIN1 (M331I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527253	NM_152501.5(PYHIN1):c.1123T>C (p.Phe375Leu)	PYHIN1 (F366L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369313	NM_152501.5(PYHIN1):c.1154T>C (p.Met385Thr)	PYHIN1 (M376T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559937	NM_152501.5(PYHIN1):c.1174A>G (p.Met392Val)	PYHIN1 (M392V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311899	NM_152501.5(PYHIN1):c.1236G>A (p.Met412Ile)	PYHIN1 (M403I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311897	NM_152501.5(PYHIN1):c.1241T>C (p.Leu414Pro)	PYHIN1 (L414P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333492	NM_152501.5(PYHIN1):c.1259A>G (p.Gln420Arg)	PYHIN1 (Q411R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211082	NM_152501.5(PYHIN1):c.1260G>T (p.Gln420His)	PYHIN1 (Q420H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150234	NM_152501.5(PYHIN1):c.1327C>T (p.Pro443Ser)	PYHIN1 (P434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150235	NM_152501.5(PYHIN1):c.1387T>C (p.Ser463Pro)	PYHIN1 (S454P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311898	NM_152501.5(PYHIN1):c.1393C>T (p.Pro465Ser)	PYHIN1 (P456S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3038540	NM_152501.5(PYHIN1):c.1406G>A (p.Arg469Lys)	PYHIN1 (R460K +1 more)	Single nucleotide variant (missense variant +1 more)	PYHIN1-related disorder	GBenign
Select item 2215017	NM_152501.5(PYHIN1):c.1424T>C (p.Val475Ala)	PYHIN1 (V475A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618576	NM_152501.5(PYHIN1):c.1439C>A (p.Ser480Tyr)	PYHIN1 (S471Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150236	NM_152501.5(PYHIN1):c.1450T>G (p.Ser484Ala)	PYHIN1 (S475A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376369	NM_152501.5(PYHIN1):c.1460G>A (p.Arg487His)	PYHIN1 (R478H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150237	NM_152501.5(PYHIN1):c.1468G>A (p.Ala490Thr)	PYHIN1 (A481T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340287	GRCh37/hg19 1q23.1-23.2(chr1:158822741-159244974)x3	ACKR1, AIM2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 565188	GRCh37/hg19 1q23.1(chr1:158489545-158901383)x1	OR6Y1, OR10Z1 +10 more	Copy number loss	not provided	GUncertain significance
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 441719	GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3	ACKR1, AIM2 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 48