ClinVar for Gene (Select 9271) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314330	NM_001393629.1(RIMBP2):c.3880A>G (p.Met1294Val)	PIWIL1, RIMBP2 (M1055V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306761	NM_004764.5(PIWIL1):c.71C>A (p.Ser24Tyr)	PIWIL1 (S24Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306760	NM_004764.5(PIWIL1):c.70T>C (p.Ser24Pro)	PIWIL1 (S24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306759	NM_004764.5(PIWIL1):c.1556C>T (p.Thr519Ile)	PIWIL1 (T519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306758	NM_004764.5(PIWIL1):c.2314C>T (p.Pro772Ser)	PIWIL1 (P772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306757	NM_004764.5(PIWIL1):c.53C>T (p.Thr18Ile)	PIWIL1 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306756	NM_004764.5(PIWIL1):c.1984T>C (p.Cys662Arg)	PIWIL1 (C662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306755	NM_004764.5(PIWIL1):c.152G>A (p.Arg51Gln)	PIWIL1 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213333	NM_004764.5(PIWIL1):c.874G>C (p.Glu292Gln)	PIWIL1 (E292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213331	NM_004764.5(PIWIL1):c.554C>T (p.Thr185Ile)	PIWIL1 (T185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213330	NM_004764.5(PIWIL1):c.418A>G (p.Met140Val)	PIWIL1 (M140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213329	NM_004764.5(PIWIL1):c.383C>T (p.Ala128Val)	PIWIL1 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213328	NM_004764.5(PIWIL1):c.272T>C (p.Val91Ala)	PIWIL1 (V91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213326	NM_004764.5(PIWIL1):c.2176T>C (p.Ser726Pro)	PIWIL1 (S726P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213325	NM_004764.5(PIWIL1):c.2054C>T (p.Ala685Val)	PIWIL1 (A685V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213324	NM_004764.5(PIWIL1):c.1997A>G (p.Asp666Gly)	PIWIL1 (D666G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213323	NM_004764.5(PIWIL1):c.1528T>G (p.Ser510Ala)	PIWIL1 (S510A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154330	NM_001393629.1(RIMBP2):c.3793G>C (p.Val1265Leu)	PIWIL1, RIMBP2 (V973L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154328	NM_001393629.1(RIMBP2):c.3614G>A (p.Arg1205His)	PIWIL1, RIMBP2 (R913H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154327	NM_001393629.1(RIMBP2):c.3256C>T (p.Arg1086Cys)	PIWIL1, RIMBP2 (R847C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154326	NM_001393629.1(RIMBP2):c.3236T>A (p.Ile1079Asn)	PIWIL1, RIMBP2 (I1079N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060964	NM_004764.5(PIWIL1):c.2041+8A>G	PIWIL1	Single nucleotide variant (intron variant)	PIWIL1-related disorder	GBenign
Select item 3060640	NM_004764.5(PIWIL1):c.1128G>A (p.Leu376=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GBenign
Select item 3060310	NM_004764.5(PIWIL1):c.317-9C>T	PIWIL1	Single nucleotide variant (intron variant)	PIWIL1-related disorder	GBenign
Select item 3057484	NM_004764.5(PIWIL1):c.279A>G (p.Thr93=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GLikely benign
Select item 3056973	NM_004764.5(PIWIL1):c.2103C>T (p.Arg701=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GBenign
Select item 3056802	NM_004764.5(PIWIL1):c.191-4dup	PIWIL1	Duplication (intron variant)	PIWIL1-related disorder	GLikely benign
Select item 3056689	NM_004764.5(PIWIL1):c.94T>G (p.Tyr32Asp)	PIWIL1 (Y32D)	Single nucleotide variant (missense variant)	PIWIL1-related disorder	GLikely benign
Select item 3056328	NM_004764.5(PIWIL1):c.735-7C>T	PIWIL1	Single nucleotide variant (intron variant)	PIWIL1-related disorder	GBenign
Select item 3056217	NM_004764.5(PIWIL1):c.1779A>G (p.Lys593=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GBenign
Select item 3055830	NM_004764.5(PIWIL1):c.1580G>A (p.Arg527Lys)	PIWIL1 (R527K)	Single nucleotide variant (missense variant)	PIWIL1-related disorder	GBenign
Select item 3052765	NM_004764.5(PIWIL1):c.2403C>T (p.Ser801=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GLikely benign
Select item 3050449	NM_004764.5(PIWIL1):c.78+8C>T	PIWIL1	Single nucleotide variant (intron variant)	PIWIL1-related disorder	GLikely benign
Select item 3049632	NM_004764.5(PIWIL1):c.18A>G (p.Arg6=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GBenign
Select item 3045433	NM_004764.5(PIWIL1):c.1893C>T (p.Ile631=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GLikely benign
Select item 3043022	NM_004764.5(PIWIL1):c.1867-7A>G	PIWIL1	Single nucleotide variant (intron variant)	PIWIL1-related disorder	GLikely benign
Select item 3041646	NM_004764.5(PIWIL1):c.1503G>A (p.Thr501=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GBenign
Select item 3040379	NM_004764.5(PIWIL1):c.345C>T (p.Ser115=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GLikely benign
Select item 3039186	NM_004764.5(PIWIL1):c.294C>T (p.Asp98=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GLikely benign
Select item 3039067	NM_004764.5(PIWIL1):c.1255C>T (p.Arg419Cys)	PIWIL1 (R419C)	Single nucleotide variant (missense variant)	PIWIL1-related disorder	GLikely benign
Select item 3033233	NM_004764.5(PIWIL1):c.2094C>T (p.Ile698=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GLikely benign
Select item 3029045	NM_004764.5(PIWIL1):c.132G>T (p.Gly44=)	PIWIL1	Single nucleotide variant (synonymous variant)	PIWIL1-related disorder	GLikely benign
Select item 3024489	NM_004764.5(PIWIL1):c.688C>T (p.Arg230Ter)	PIWIL1 (R230*)	Single nucleotide variant (nonsense)	Male infertility	GLikely pathogenic
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643591	NM_001393629.1(RIMBP2):c.2910G>A (p.Val970=)	PIWIL1, RIMBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643590	NM_001393629.1(RIMBP2):c.2988G>A (p.Pro996=)	PIWIL1, RIMBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643589	NM_004764.5(PIWIL1):c.2061T>C (p.Asn687=)	PIWIL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619997	NM_004764.5(PIWIL1):c.1352C>A (p.Ser451Tyr)	PIWIL1 (S451Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605754	NM_004764.5(PIWIL1):c.2459A>G (p.Tyr820Cys)	PIWIL1 (Y820C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552493	NM_004764.5(PIWIL1):c.1290A>T (p.Lys430Asn)	PIWIL1 (K430N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541325	NM_004764.5(PIWIL1):c.1325G>A (p.Gly442Asp)	PIWIL1 (G442D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523586	NM_001393629.1(RIMBP2):c.3314C>T (p.Pro1105Leu)	PIWIL1, RIMBP2 (P866L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515014	NM_004764.5(PIWIL1):c.820C>T (p.Leu274Phe)	PIWIL1 (L274F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510471	NM_001393629.1(RIMBP2):c.3704C>T (p.Thr1235Ile)	PIWIL1, RIMBP2 (T943I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469528	NM_004764.5(PIWIL1):c.2468C>T (p.Pro823Leu)	PIWIL1 (P823L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411619	NM_004764.5(PIWIL1):c.559A>G (p.Asn187Asp)	PIWIL1 (N187D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397415	NM_004764.5(PIWIL1):c.581C>T (p.Thr194Met)	PIWIL1 (T194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391127	NM_004764.5(PIWIL1):c.1934C>T (p.Ala645Val)	PIWIL1 (A645V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368453	NM_001393629.1(RIMBP2):c.3834A>C (p.Glu1278Asp)	PIWIL1, RIMBP2 (E1022D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363399	NM_004764.5(PIWIL1):c.424G>T (p.Ala142Ser)	PIWIL1 (A142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361542	NM_004764.5(PIWIL1):c.121C>A (p.Pro41Thr)	PIWIL1 (P41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360695	NM_001393629.1(RIMBP2):c.3251G>A (p.Arg1084Gln)	PIWIL1, RIMBP2 (R792Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338125	NM_001393629.1(RIMBP2):c.3900+527G>A	PIWIL1, RIMBP2 (V1064I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325759	NM_001393629.1(RIMBP2):c.3721A>G (p.Ile1241Val)	PIWIL1, RIMBP2 (I1002V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316176	NM_001393629.1(RIMBP2):c.3745G>A (p.Asp1249Asn)	PIWIL1, RIMBP2 (D1010N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307576	NM_004764.5(PIWIL1):c.1450G>C (p.Gly484Arg)	PIWIL1 (G484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301195	NM_004764.5(PIWIL1):c.1518A>C (p.Glu506Asp)	PIWIL1 (E506D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300920	NM_004764.5(PIWIL1):c.1787C>G (p.Thr596Ser)	PIWIL1 (T596S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299702	NM_004764.5(PIWIL1):c.2066G>A (p.Cys689Tyr)	PIWIL1 (C689Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297898	NM_001393629.1(RIMBP2):c.3716G>C (p.Gly1239Ala)	PIWIL1, RIMBP2 (G983A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277094	NM_004764.5(PIWIL1):c.460G>A (p.Glu154Lys)	PIWIL1 (E154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256597	NM_004764.5(PIWIL1):c.70T>A (p.Ser24Thr)	PIWIL1 (S24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246596	NM_004764.5(PIWIL1):c.675G>T (p.Leu225Phe)	PIWIL1 (L225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243513	NM_004764.5(PIWIL1):c.1295A>G (p.Asp432Gly)	PIWIL1 (D432G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237232	NM_004764.5(PIWIL1):c.2180T>C (p.Ile727Thr)	PIWIL1 (I727T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232342	NM_004764.5(PIWIL1):c.71C>G (p.Ser24Cys)	PIWIL1 (S24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215823	NM_001393629.1(RIMBP2):c.3691G>A (p.Glu1231Lys)	PIWIL1, RIMBP2 (E1231K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213871	NM_004764.5(PIWIL1):c.248G>A (p.Arg83His)	PIWIL1 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213822	NM_001393629.1(RIMBP2):c.3613C>T (p.Arg1205Cys)	PIWIL1, RIMBP2 (R913C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980997	GRCh37/hg19 12q24.33(chr12:130192184-131023667)x3	FZD10, PIWIL1 +2 more	Copy number gain	not provided	GLikely benign
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 441989	GRCh37/hg19 12q24.33(chr12:130571310-131324619)x3	FZD10, PIWIL1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 148074	GRCh38/hg38 12q24.33(chr12:130246043-130806970)x3	LOC121838570, LOC124849284 +16 more	Copy number gain	See cases	GUncertain significance
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 98