ClinVar for Gene (Select 55291) - ClinVar

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

Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309584	NM_001164161.2(PPP6R3):c.2537C>T (p.Ala846Val)	PPP6R3 (A726V +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309583	NM_001164161.2(PPP6R3):c.854G>A (p.Gly285Asp)	PPP6R3 (G123D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309582	NM_001164161.2(PPP6R3):c.2279C>T (p.Ala760Val)	PPP6R3 (A640V +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3309581	NM_001164161.2(PPP6R3):c.2089G>T (p.Ala697Ser)	PPP6R3 (A535S +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309580	NM_001164161.2(PPP6R3):c.1543C>G (p.Leu515Val)	PPP6R3 (L464V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309579	NM_001164161.2(PPP6R3):c.2161G>A (p.Ala721Thr)	PPP6R3 (A686T +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309578	NM_001164161.2(PPP6R3):c.1115T>C (p.Ile372Thr)	PPP6R3 (I281T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217929	NM_001164161.2(PPP6R3):c.970C>T (p.Pro324Ser)	PPP6R3 (P162S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217928	NM_001164161.2(PPP6R3):c.859A>G (p.Ile287Val)	PPP6R3 (I287V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217927	NM_001164161.2(PPP6R3):c.615A>T (p.Glu205Asp)	PPP6R3 (E205D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217926	NM_001164161.2(PPP6R3):c.484A>G (p.Ile162Val)	PPP6R3 (I71V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217925	NM_001164161.2(PPP6R3):c.2347G>A (p.Ala783Thr)	PPP6R3 (A621T +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217924	NM_001164161.2(PPP6R3):c.184A>T (p.Ile62Leu)	PPP6R3 (I62L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3217923	NM_001164161.2(PPP6R3):c.1664C>T (p.Thr555Met)	PPP6R3 (T301M +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217922	NM_001164161.2(PPP6R3):c.1544T>C (p.Leu515Pro)	PPP6R3 (L353P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217921	NM_001164161.2(PPP6R3):c.1468G>A (p.Asp490Asn)	PPP6R3 (D490N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217920	NM_001164161.2(PPP6R3):c.133A>T (p.Ile45Leu)	PPP6R3 (I45L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3217919	NM_001164161.2(PPP6R3):c.1279C>A (p.Leu427Ile)	PPP6R3 (L336I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217918	NM_001164161.2(PPP6R3):c.1229C>T (p.Ala410Val)	PPP6R3 (A248V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217917	NM_001164161.2(PPP6R3):c.1009G>C (p.Asp337His)	PPP6R3 (D175H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685409	GRCh37/hg19 11q13.2(chr11:67799161-68393180)x1	C11orf24, CHKA +5 more	Copy number loss	not provided	GPathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2607315	NM_001164161.2(PPP6R3):c.1345G>T (p.Ala449Ser)	PPP6R3 (A224S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491971	NM_001164161.2(PPP6R3):c.1355G>A (p.Gly452Glu)	PPP6R3 (G401E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491633	NM_001164161.2(PPP6R3):c.952G>C (p.Glu318Gln)	PPP6R3 (E318Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480388	NM_001164161.2(PPP6R3):c.2068C>A (p.Pro690Thr)	PPP6R3 (P436T +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478842	NM_001164161.2(PPP6R3):c.1100T>C (p.Met367Thr)	PPP6R3 (M367T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471882	NM_001164161.2(PPP6R3):c.1193T>C (p.Leu398Pro)	PPP6R3 (L307P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463425	NM_001164161.2(PPP6R3):c.1919C>T (p.Ser640Leu)	PPP6R3 (S386L +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461276	NM_001164161.2(PPP6R3):c.240A>G (p.Ile80Met)	PPP6R3 (I80M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2454759	NM_001164161.2(PPP6R3):c.337G>A (p.Asp113Asn)	PPP6R3 (D22N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2424412	NC_000011.9:g.(?_68197023)_(68458455_?)dup	GAL, LRP5 +1 more	Duplication	not provided	GUncertain significance
Select item 2411920	NM_001164161.2(PPP6R3):c.1240G>A (p.Asp414Asn)	PPP6R3 (D323N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389661	NM_001164161.2(PPP6R3):c.2542A>G (p.Arg848Gly)	PPP6R3 (R813G +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358598	NM_001164161.2(PPP6R3):c.1466C>G (p.Pro489Arg)	PPP6R3 (P264R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341500	NM_001164161.2(PPP6R3):c.457A>G (p.Ile153Val)	PPP6R3 (I153V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313920	NM_001164161.2(PPP6R3):c.1436C>T (p.Ala479Val)	PPP6R3 (A479V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304975	NM_001164161.2(PPP6R3):c.1816A>C (p.Lys606Gln)	PPP6R3 (K486Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298507	NM_001164161.2(PPP6R3):c.1772A>G (p.Asn591Ser)	PPP6R3 (N483S +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272214	NM_001164161.2(PPP6R3):c.1132A>G (p.Met378Val)	PPP6R3 (M153V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266527	NM_001164161.2(PPP6R3):c.908A>G (p.Lys303Arg)	PPP6R3 (K141R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260821	NM_001164161.2(PPP6R3):c.1565A>G (p.His522Arg)	PPP6R3 (H297R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260136	NM_001164161.2(PPP6R3):c.2207T>C (p.Leu736Ser)	PPP6R3 (L574S +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246148	NM_001164161.2(PPP6R3):c.1913C>T (p.Ser638Phe)	PPP6R3 (S547F +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230420	NM_001164161.2(PPP6R3):c.1110T>G (p.Asn370Lys)	PPP6R3 (N145K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225474	NM_001164161.2(PPP6R3):c.1601C>T (p.Thr534Met)	PPP6R3 (T443M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212301	NM_001164161.2(PPP6R3):c.1405G>A (p.Val469Met)	PPP6R3 (V307M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211367	NM_001164161.2(PPP6R3):c.1745G>A (p.Arg582Gln)	PPP6R3 (R485Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807908	GRCh37/hg19 11q13.2-13.3(chr11:68246542-68515741)x3	GAL, PPP6R3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815438	GRCh37/hg19 11q13.2-13.3(chr11:68266294-68515741)x3	TESMIN, PPP6R3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685625	GRCh37/hg19 11q13.2-13.3(chr11:67826766-68440477)x3	C11orf24, CHKA +3 more	Copy number gain	not provided	GUncertain significance
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	C11orf24, CPT1A +96 more	Copy number gain	See cases	GLikely benign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	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: 62