19016[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	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 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
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 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	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 2251166	NM_017583.6(TRIM44):c.97T>G (p.Cys33Gly)	TRIM44 (C33G)	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 3182472	NM_017583.6(TRIM44):c.155T>A (p.Phe52Tyr)	TRIM44 (F52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038700	NM_017583.6(TRIM44):c.174C>T (p.Ala58=)	TRIM44	Single nucleotide variant (synonymous variant)	TRIM44-related disorder	GBenign
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 3182474	NM_017583.6(TRIM44):c.208C>G (p.Pro70Ala)	TRIM44 (P70A)	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 2486309	NM_017583.6(TRIM44):c.222G>C (p.Glu74Asp)	TRIM44 (E74D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3182476	NM_017583.6(TRIM44):c.253G>T (p.Val85Leu)	TRIM44 (V85L)	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 2545238	NM_017583.6(TRIM44):c.289G>A (p.Glu97Lys)	TRIM44 (E97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328750	NM_017583.6(TRIM44):c.294G>T (p.Glu98Asp)	TRIM44 (E98D)	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 2292835	NM_017583.6(TRIM44):c.433A>G (p.Asn145Asp)	TRIM44 (N145D)	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 264710	NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)	TRIM44 (G155R)	Single nucleotide variant (missense variant)	Aniridia 3	GPathogenic
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 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 793004	NM_017583.6(TRIM44):c.537T>C (p.Cys179=)	TRIM44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786919	NM_017583.6(TRIM44):c.552T>C (p.Leu184=)	TRIM44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786920	NM_017583.6(TRIM44):c.579T>C (p.Asp193=)	TRIM44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3328752	NM_017583.6(TRIM44):c.604C>T (p.Pro202Ser)	TRIM44 (P202S)	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 1342269	NM_017583.6(TRIM44):c.670-27G>C	TRIM44	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3328751	NM_017583.6(TRIM44):c.697G>A (p.Ala233Thr)	TRIM44 (A233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 709789	NM_017583.6(TRIM44):c.941A>G (p.Lys314Arg)	TRIM44 (K314R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1342270	NM_017583.6(TRIM44):c.*23A>G	TRIM44	Single nucleotide variant (3 prime UTR variant)	Aniridia 3 +1 more	GBenign
Select item 2684640	GRCh37/hg19 11p13(chr11:35516838-35724011)x3	FJX1, PAMR1 +1 more	Copy number gain	not provided	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	MAML2, MAP3K11 +955 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 997825	Single allele	MMP13, MMP20 +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 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)	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 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +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 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 51