MEIS1[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 151435	GRCh38/hg38 2p14(chr2:65377225-66768570)x3	LINC01798, LINC01873 +48 more	Copy number gain	See cases	GUncertain significance
Select item 149489	GRCh38/hg38 2p14(chr2:65855728-66532583)x3	HCNR606, HHC2:065944 +18 more	Copy number gain	See cases	GLikely benign
Select item 58872	GRCh38/hg38 2p14(chr2:66239485-67988719)x3	ETAA1, HCNR606 +40 more	Copy number gain	See cases	GUncertain significance
Select item 2321186	NM_002398.3(MEIS1):c.38G>A (p.Gly13Asp)	MEIS1 (G13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297799	NM_002398.3(MEIS1):c.69G>A (p.Met23Ile)	MEIS1 (M23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058219	NM_002398.3(MEIS1):c.91A>C (p.Arg31=)	MEIS1	Single nucleotide variant (synonymous variant)	MEIS1-related disorder	GLikely benign
Select item 3125274	NM_002398.3(MEIS1):c.112C>G (p.His38Asp)	MEIS1 (H38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294175	NM_002398.3(MEIS1):c.127C>T (p.Pro43Ser)	MEIS1 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490480	NM_002398.3(MEIS1):c.207C>A (p.Asp69Glu)	MEIS1 (D69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377810	NM_002398.3(MEIS1):c.454T>A (p.Leu152Ile)	MEIS1 (L152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125276	NM_002398.3(MEIS1):c.568A>G (p.Arg190Gly)	HHC2:066588, MEIS1 (R190G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351832	NM_002398.3(MEIS1):c.671G>A (p.Arg224His)	MEIS1 (R224H)	Single nucleotide variant (missense variant)	MEIS1-related disorder	GUncertain significance
Select item 930558	NM_002398.3(MEIS1):c.1025-2A>G	MEIS1	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 3125273	NM_002398.3(MEIS1):c.1065G>T (p.Met355Ile)	MEIS1 (M355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294176	NM_002398.3(MEIS1):c.1081G>A (p.Asp361Asn)	MEIS1 (D361N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720729	NM_002398.3(MEIS1):c.1083C>T (p.Asp361=)	MEIS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233544	NM_002398.3(MEIS1):c.1108G>A (p.Ala370Thr)	MEIS1 (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062638	GRCh37/hg19 2p14(chr2:66026430-67944842)x3	ETAA1, LINC01873 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 547118	GRCh37/hg19 2p14(chr2:65502450-68225338)x1	MEIS1, ETAA1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 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

Search results

Items: 31