ClinVar for Gene (Select 55291) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ACTN3, ACY3 +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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2461276	NM_001164161.2(PPP6R3):c.240A>G (p.Ile80Met)	PPP6R3 (I80M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	LOC130006238, LOC130006239 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	LOC130006287, LOC130006288 +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

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Links from Gene

Items: 42