DRAP1[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 710012	NM_006442.4(DRAP1):c.48G>A (p.Arg16=)	DRAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2454572	NM_006442.4(DRAP1):c.325C>T (p.Arg109Cys)	DRAP1 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085710	NM_006442.4(DRAP1):c.332G>A (p.Gly111Asp)	DRAP1 (G111D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273733	NM_006442.4(DRAP1):c.334C>T (p.Arg112Trp)	DRAP1 (R112W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239270	NM_006442.4(DRAP1):c.371T>C (p.Met124Thr)	DRAP1 (M124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210076	NM_006442.4(DRAP1):c.390C>G (p.Asp130Glu)	DRAP1 (D130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207967	NM_006442.4(DRAP1):c.446C>G (p.Thr149Ser)	DRAP1 (T149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085711	NM_006442.4(DRAP1):c.520A>C (p.Thr174Pro)	DRAP1 (T174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319642	NM_006442.4(DRAP1):c.530T>C (p.Leu177Pro)	DRAP1 (L177P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348602	NM_006442.4(DRAP1):c.551C>T (p.Pro184Leu)	DRAP1 (P184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273732	NM_006442.4(DRAP1):c.555G>T (p.Leu185Phe)	DRAP1 (L185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345250	NM_006442.4(DRAP1):c.569C>T (p.Pro190Leu)	DRAP1 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085713	NM_006442.4(DRAP1):c.586G>A (p.Asp196Asn)	DRAP1 (D196N)	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 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	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 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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

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: 26