ClinVar for Gene (Select 54765) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182478	NM_017583.6(TRIM44):c.799C>G (p.Gln267Glu)	TRIM44 (Q267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182477	NM_017583.6(TRIM44):c.418G>A (p.Glu140Lys)	TRIM44 (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182476	NM_017583.6(TRIM44):c.253G>T (p.Val85Leu)	TRIM44 (V85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182475	NM_017583.6(TRIM44):c.227C>G (p.Ala76Gly)	TRIM44 (A76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182474	NM_017583.6(TRIM44):c.208C>G (p.Pro70Ala)	TRIM44 (P70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182473	NM_017583.6(TRIM44):c.175G>C (p.Glu59Gln)	TRIM44 (E59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182472	NM_017583.6(TRIM44):c.155T>A (p.Phe52Tyr)	TRIM44 (F52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182471	NM_017583.6(TRIM44):c.124C>T (p.Arg42Cys)	TRIM44 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044704	NM_017583.6(TRIM44):c.669+7A>G	TRIM44	Single nucleotide variant (intron variant)	TRIM44-related disorder	GLikely benign
Select item 3038700	NM_017583.6(TRIM44):c.174C>T (p.Ala58=)	TRIM44	Single nucleotide variant (synonymous variant)	TRIM44-related disorder	GBenign
Select item 2684640	GRCh37/hg19 11p13(chr11:35516838-35724011)x3	FJX1, PAMR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2545238	NM_017583.6(TRIM44):c.289G>A (p.Glu97Lys)	TRIM44 (E97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495295	NM_017583.6(TRIM44):c.467A>G (p.Glu156Gly)	TRIM44 (E156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486309	NM_017583.6(TRIM44):c.222G>C (p.Glu74Asp)	TRIM44 (E74D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396015	NM_017583.6(TRIM44):c.992A>T (p.Asp331Val)	TRIM44 (D331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332421	NM_017583.6(TRIM44):c.23C>T (p.Ala8Val)	TRIM44 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298272	NM_017583.6(TRIM44):c.260A>G (p.Gln87Arg)	TRIM44 (Q87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292835	NM_017583.6(TRIM44):c.433A>G (p.Asn145Asp)	TRIM44 (N145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251166	NM_017583.6(TRIM44):c.97T>G (p.Cys33Gly)	TRIM44 (C33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225453	NM_017583.6(TRIM44):c.209C>T (p.Pro70Leu)	TRIM44 (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210540	NM_017583.6(TRIM44):c.458C>T (p.Ala153Val)	TRIM44 (A153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1342270	NM_017583.6(TRIM44):c.*23A>G	TRIM44	Single nucleotide variant (3 prime UTR variant)	Aniridia 3	GBenign
Select item 1342269	NM_017583.6(TRIM44):c.670-27G>C	TRIM44	Single nucleotide variant (intron variant)	Aniridia 3	GBenign
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815426	GRCh37/hg19 11p13(chr11:35782909-36024456)x3	LDLRAD3, TRIM44	Copy number gain	not provided	GUncertain significance
Select item 793004	NM_017583.6(TRIM44):c.537T>C (p.Cys179=)	TRIM44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786920	NM_017583.6(TRIM44):c.579T>C (p.Asp193=)	TRIM44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786919	NM_017583.6(TRIM44):c.552T>C (p.Leu184=)	TRIM44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709789	NM_017583.6(TRIM44):c.941A>G (p.Lys314Arg)	TRIM44 (K314R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 443176	GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1	CD44, COMMD9 +10 more	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 264710	NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)	TRIM44 (G155R)	Single nucleotide variant (missense variant)	Aniridia 3	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance

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: 47