TRIM44[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

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: 30