ClinVar for Gene (Select 149628) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
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 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 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 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 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 2485818	NM_152501.5(PYHIN1):c.109C>T (p.Pro37Ser)	PYHIN1 (P37S)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48