ClinVar for Gene (Select 133) - ClinVar

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

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3089486	NM_001124.3(ADM):c.520C>T (p.Pro174Ser)	ADM (P174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089481	NM_001124.3(ADM):c.416G>A (p.Ser139Asn)	ADM (S139N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089478	NM_001124.3(ADM):c.236G>A (p.Ser79Asn)	ADM (S79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063208	GRCh37/hg19 11p15.4(chr11:9926943-10622476)x1	ADM, AMPD3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2603334	NM_001124.3(ADM):c.430C>G (p.Gln144Glu)	ADM (Q144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515502	NM_001124.3(ADM):c.260C>T (p.Ala87Val)	ADM (A87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475615	NM_001124.3(ADM):c.113C>T (p.Ala38Val)	ADM (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475614	NM_001124.3(ADM):c.112G>T (p.Ala38Ser)	ADM (A38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471818	NM_001124.3(ADM):c.11T>A (p.Val4Asp)	ADM (V4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471817	NM_001124.3(ADM):c.10G>C (p.Val4Leu)	ADM (V4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404305	NM_001124.3(ADM):c.64G>T (p.Ala22Ser)	ADM (A22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347307	NM_001124.3(ADM):c.529C>G (p.Pro177Ala)	ADM (P177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 779135	NM_001124.3(ADM):c.150C>G (p.Ser50Arg)	ADM (S50R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776585	NM_001124.3(ADM):c.254C>G (p.Pro85Arg)	ADM (P85R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 759410	NM_001124.3(ADM):c.477G>T (p.Pro159=)	ADM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749078	NM_001124.3(ADM):c.9G>A (p.Leu3=)	ADM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	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: 29