9776[Gene ID] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 152826	GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3	AMBRA1, ARHGAP1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 560080	Single allele	AMBRA1, ARHGAP1 +8 more	Deletion	not provided	GUncertain significance
Select item 2407906	NM_001346311.2(ATG13):c.41A>G (p.Asp14Gly)	ATG13 (D14G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2387924	NM_001346311.2(ATG13):c.64C>G (p.Leu22Val)	ATG13 (L22V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3320714	NM_001346311.2(ATG13):c.112T>G (p.Cys38Gly)	ATG13 (C38G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 789796	NM_001346311.2(ATG13):c.129T>A (p.Ser43=)	ATG13	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2363290	NM_001346311.2(ATG13):c.131C>T (p.Ser44Phe)	ATG13 (S44F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320744	NM_001346311.2(ATG13):c.167A>G (p.Lys56Arg)	ATG13 (K56R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320721	NM_001346311.2(ATG13):c.299G>T (p.Cys100Phe)	ATG13 (C21F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374570	NM_001346311.2(ATG13):c.347C>T (p.Thr116Met)	ATG13 (T37M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2544261	NM_001346311.2(ATG13):c.486T>A (p.Ser162Arg)	ATG13 (S83R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487387	NM_001346311.2(ATG13):c.524C>T (p.Thr175Ile)	ATG13 (T175I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253279	NM_001346311.2(ATG13):c.551C>G (p.Thr184Ser)	ATG13 (T105S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320706	NM_001346311.2(ATG13):c.652C>T (p.Arg218Cys)	ATG13 (R218C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349855	NM_001346311.2(ATG13):c.653G>A (p.Arg218His)	ATG13 (R218H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408351	NM_001346311.2(ATG13):c.689A>G (p.Asn230Ser)	ATG13 (N151S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320758	NM_001346311.2(ATG13):c.723A>G (p.Ile241Met)	ATG13 (I46M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130864	NM_001346311.2(ATG13):c.766T>C (p.Phe256Leu)	ATG13 (F177L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130865	NM_001346311.2(ATG13):c.769T>C (p.Ser257Pro)	ATG13 (S257P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130866	NM_001346311.2(ATG13):c.865G>A (p.Ala289Thr)	ATG13 (A289T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305965	NM_001346311.2(ATG13):c.898T>G (p.Ser300Ala)	ATG13 (S267A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320739	NM_001346311.2(ATG13):c.931G>A (p.Val311Ile)	ATG13 (V278I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130867	NM_001346311.2(ATG13):c.931G>T (p.Val311Phe)	ATG13 (V302F +4 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3130868	NM_001346311.2(ATG13):c.980A>G (p.Asn327Ser)	ATG13 (N285S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320729	NM_001346311.2(ATG13):c.1127C>T (p.Pro376Leu)	ATG13 (P111L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402864	NM_001346311.2(ATG13):c.1166G>A (p.Ser389Asn)	ATG13 (S356N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779141	NM_001346311.2(ATG13):c.1167T>C (p.Ser389=)	ATG13	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2358507	NM_001346311.2(ATG13):c.1177G>A (p.Ala393Thr)	ATG13 (A351T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613129	NM_001346311.2(ATG13):c.1285A>T (p.Met429Leu)	ATG13 (M164L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130861	NM_001346311.2(ATG13):c.1300A>G (p.Asn434Asp)	ATG13 (N401D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407729	NM_001346311.2(ATG13):c.1372G>A (p.Gly458Ser)	ATG13 (G193S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349776	NM_001346311.2(ATG13):c.1394C>T (p.Ser465Phe)	ATG13 (S237F +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130862	NM_001346311.2(ATG13):c.1421A>G (p.His474Arg)	ATG13 (H465R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130863	NM_001346311.2(ATG13):c.1474C>T (p.Leu492Phe)	ATG13 (L227F +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320767	NM_001346311.2(ATG13):c.1478C>T (p.Pro493Leu)	ATG13 (P228L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257987	NM_001346311.2(ATG13):c.1502G>A (p.Arg501Gln)	ATG13 (R417Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320750	NM_001346311.2(ATG13):c.1552G>A (p.Ala518Thr)	ATG13 (A290T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161571	NM_001346311.2(ATG13):c.1576-1G>C	ATG13	Single nucleotide variant (splice acceptor variant)	Malignant tumor of prostate	GUncertain significance
Select item 2462525	NM_001346311.2(ATG13):c.1631C>A (p.Ala544Asp)	ATG13 (A474D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684645	GRCh37/hg19 11p11.2(chr11:46636234-47048768)x3	ARHGAP1, ATG13 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684644	GRCh37/hg19 11p11.2(chr11:46556948-46825148)x3	AMBRA1, ARHGAP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527641	GRCh37/hg19 11p11.2(chr11:46560809-46720908)	AMBRA1, ARHGAP1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527640	GRCh37/hg19 11p11.2(chr11:46248477-46748132)	AMBRA1, ARHGAP1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1448414	NC_000011.9:g.(?_46318032)_(46761066_?)dup	AMBRA1, ARHGAP1 +8 more	Duplication	not provided	GUncertain significance
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1042681	NC_000011.9:g.(?_46569796)_(46742390_?)dup	ZNF408, AMBRA1 +4 more	Duplication	not provided	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979918	GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3	ARHGAP1, ATG13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 832135	NC_000011.10:g.(?_46366257)_(46744577_?)dup	AMBRA1, ARHGAP1 +8 more	Duplication	not provided	GUncertain significance
Select item 685706	GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3	AMBRA1, ARHGAP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563831	GRCh37/hg19 11p11.2(chr11:46502259-46745473)x3	AMBRA1, ARHGAP1 +4 more	Copy number gain	not provided	GUncertain significance
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

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Items: 61