1950[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2545394	NM_000738.3(CHRM1):c.1367C>T (p.Pro456Leu)	CHRM1 (P456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224285	NM_000738.3(CHRM1):c.1354G>A (p.Val452Met)	CHRM1 (V452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267137	NM_000738.3(CHRM1):c.1343G>A (p.Arg448His)	CHRM1 (R448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375070	NM_000738.3(CHRM1):c.1277G>A (p.Arg426Gln)	CHRM1 (R426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098339	NM_000738.3(CHRM1):c.1274T>C (p.Phe425Ser)	CHRM1 (F425S)	Single nucleotide variant (missense variant)	See cases +1 more	GLikely pathogenic
Select item 741059	NM_000738.3(CHRM1):c.1137A>C (p.Thr379=)	CHRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144580	NM_000738.3(CHRM1):c.1111C>T (p.Leu371Phe)	CHRM1 (L371F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144579	NM_000738.3(CHRM1):c.1012G>A (p.Gly338Ser)	CHRM1 (G338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214661	NM_000738.3(CHRM1):c.1001G>A (p.Arg334His)	CHRM1 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365691	NM_000738.3(CHRM1):c.986C>T (p.Pro329Leu)	CHRM1 (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144584	NM_000738.3(CHRM1):c.848G>T (p.Gly283Val)	CHRM1 (G283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715306	NM_000738.3(CHRM1):c.843C>T (p.Asp281=)	CHRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144583	NM_000738.3(CHRM1):c.776G>T (p.Cys259Phe)	CHRM1 (C259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243203	NM_000738.3(CHRM1):c.737C>G (p.Pro246Arg)	CHRM1 (P246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746110	NM_000738.3(CHRM1):c.732T>A (p.Ser244=)	CHRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267136	NM_000738.3(CHRM1):c.691C>T (p.Pro231Ser)	CHRM1 (P231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708735	NM_000738.3(CHRM1):c.690G>A (p.Thr230=)	CHRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245781	NM_000738.3(CHRM1):c.664C>G (p.Leu222Val)	CHRM1 (L222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144582	NM_000738.3(CHRM1):c.638G>A (p.Arg213Gln)	CHRM1 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806687	NM_000738.3(CHRM1):c.618G>A (p.Thr206=)	CHRM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2594495	NM_000738.3(CHRM1):c.439G>A (p.Gly147Ser)	CHRM1 (G147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248124	NM_000738.3(CHRM1):c.409C>T (p.Arg137Cys)	CHRM1 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2163220	NM_000738.3(CHRM1):c.238A>C (p.Asn80His)	CHRM1 (N80H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2243149	NM_000738.3(CHRM1):c.206G>A (p.Cys69Tyr)	CHRM1 (C69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267138	NM_000738.3(CHRM1):c.56G>A (p.Gly19Glu)	CHRM1 (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741447	NM_000738.3(CHRM1):c.42C>T (p.Thr14=)	CHRM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3144581	NM_000738.3(CHRM1):c.32C>T (p.Pro11Leu)	CHRM1 (P11L)	Single nucleotide variant (missense variant)	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 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 1527643	GRCh37/hg19 11q12.3(chr11:62670903-62820292)	CHRM1, SLC22A6 +1 more	Copy number loss	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 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
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 42