ClinVar for Gene (Select 10589) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3273732	NM_006442.4(DRAP1):c.555G>T (p.Leu185Phe)	DRAP1 (L185F)	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 3085711	NM_006442.4(DRAP1):c.520A>C (p.Thr174Pro)	DRAP1 (T174P)	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 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 2454572	NM_006442.4(DRAP1):c.325C>T (p.Arg109Cys)	DRAP1 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2348602	NM_006442.4(DRAP1):c.551C>T (p.Pro184Leu)	DRAP1 (P184L)	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 2319642	NM_006442.4(DRAP1):c.530T>C (p.Leu177Pro)	DRAP1 (L177P)	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 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 710012	NM_006442.4(DRAP1):c.48G>A (p.Arg16=)	DRAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26