1953[HGNC] - ClinVar

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Items: 38

	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 2310208	NM_000741.5(CHRM4):c.1283G>A (p.Ser428Asn)	CHRM4 (S428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144589	NM_000741.5(CHRM4):c.1252G>A (p.Val418Ile)	CHRM4 (V418I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144588	NM_000741.5(CHRM4):c.1140C>G (p.Ile380Met)	CHRM4 (I380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267141	NM_000741.5(CHRM4):c.1100T>C (p.Met367Thr)	CHRM4 (M367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470528	NM_000741.5(CHRM4):c.1091C>A (p.Pro364Gln)	CHRM4 (P364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361941	NM_000741.5(CHRM4):c.1088C>T (p.Thr363Met)	CHRM4 (T363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310471	NM_000741.5(CHRM4):c.1066G>A (p.Ala356Thr)	CHRM4 (A356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339595	NM_000741.5(CHRM4):c.1049G>A (p.Gly350Asp)	CHRM4 (G350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599733	NM_000741.5(CHRM4):c.1046C>G (p.Thr349Arg)	CHRM4 (T349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144591	NM_000741.5(CHRM4):c.853C>T (p.Arg285Cys)	CHRM4 (R285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600999	NM_000741.5(CHRM4):c.818A>C (p.Glu273Ala)	CHRM4 (E273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371971	NM_000741.5(CHRM4):c.793G>A (p.Glu265Lys)	CHRM4 (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267142	NM_000741.5(CHRM4):c.787G>A (p.Ala263Thr)	CHRM4 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320937	NM_000741.5(CHRM4):c.722C>T (p.Thr241Met)	CHRM4 (T241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509350	NM_000741.5(CHRM4):c.694G>A (p.Glu232Lys)	CHRM4 (E232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245261	NM_000741.5(CHRM4):c.536C>T (p.Thr179Met)	CHRM4 (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612271	NM_000741.5(CHRM4):c.524T>C (p.Val175Ala)	CHRM4 (V175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144590	NM_000741.5(CHRM4):c.307G>A (p.Val103Met)	CHRM4 (V103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267143	NM_000741.5(CHRM4):c.89T>C (p.Val30Ala)	CHRM4 (V30A)	Single nucleotide variant (missense variant)	not specified	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 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 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 979917	GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3	MDK, CHRM4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979915	GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1	CHRM4, AMBRA1 +4 more	Copy number loss	not provided	GLikely pathogenic
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 559401	Single allele	DGKZ, HARBI1 +4 more	Duplication	Short philtrum +4 more	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: 38