Related gene-specific medical variations for Gene (Select 3662) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3530029	NM_002460.4(IRF4):c.1113T>G (p.Phe371Leu)	IRF4, LOC129995575 (F370L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3393340	NM_002460.4(IRF4):c.1162G>A (p.Gly388Arg)	IRF4, LOC129995575 (G387R +1 more)	Single nucleotide variant (missense variant +1 more)	Skin/hair/eye pigmentation, variation in, 8	GUncertain significance
Select item 3286532	NM_002460.4(IRF4):c.1151C>T (p.Thr384Ile)	IRF4, LOC129995575 (T383I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246164	NC_000006.11:g.(?_393153)_(401797_?)dup	IRF4	Duplication	not provided	GUncertain significance
Select item 3246163	NC_000006.11:g.(?_397088)_(407598_?)del	IRF4	Deletion	not provided	GUncertain significance
Select item 2965108	NM_002460.4(IRF4):c.1104G>C (p.Leu368=)	IRF4, LOC129995575	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857436	NM_002460.4(IRF4):c.1100-5T>C	IRF4, LOC129995575	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792463	NM_002460.4(IRF4):c.1137A>G (p.Pro379=)	IRF4, LOC129995575	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2756335	NM_002460.4(IRF4):c.1100-18_1100-15del	IRF4, LOC129995575	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2702624	NM_002460.4(IRF4):c.1155A>T (p.Leu385=)	IRF4, LOC129995575	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1671383	NM_002460.4(IRF4):c.1167G>A (p.Glu389=)	IRF4, LOC129995575	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1641650	NM_002460.4(IRF4):c.1104G>A (p.Leu368=)	IRF4, LOC129995575	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1548092	NM_002460.4(IRF4):c.1110G>A (p.Ala370=)	IRF4, LOC129995575	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1517655	NM_002460.4(IRF4):c.1127G>T (p.Arg376Leu)	IRF4, LOC129995575 (R376L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1505099	NM_002460.4(IRF4):c.1127G>C (p.Arg376Pro)	IRF4, LOC129995575 (R376P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484501	NM_002460.4(IRF4):c.1127G>A (p.Arg376His)	IRF4, LOC129995575 (R375H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1447969	NM_002460.4(IRF4):c.1126C>T (p.Arg376Cys)	IRF4, LOC129995575 (R375C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1438128	NM_002460.4(IRF4):c.1119C>G (p.His373Gln)	IRF4, LOC129995575 (H373Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1346443	NM_002460.4(IRF4):c.1154T>A (p.Leu385Gln)	IRF4, LOC129995575 (L384Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278447	NM_002460.4(IRF4):c.-55-232A>G	IRF4, LOC129995568	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1093042	NM_002460.4(IRF4):c.1109C>T (p.Ala370Val)	IRF4, LOC129995575 (A369V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 21