Related gene-specific medical variations for Gene (Select 84699) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269455	NM_032607.3(CREB3L3):c.1174C>T (p.Arg392Ter)	CREB3L3, LOC125371455 (R390* +2 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3242721	NC_000019.9:g.(?_4164480)_(4164657_?)dup	CREB3L3	Duplication	not provided	GUncertain significance
Select item 3242720	NC_000019.9:g.(?_4153745)_(4155044_?)del	CREB3L3	Deletion	not provided	GPathogenic
Select item 3038681	NM_032607.3(CREB3L3):c.*5C>T	CREB3L3, LOC125371455	Single nucleotide variant (3 prime UTR variant)	CREB3L3-related disorder	GLikely benign
Select item 2972747	NM_032607.3(CREB3L3):c.1242G>A (p.Ser414=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962998	NM_032607.3(CREB3L3):c.1158C>T (p.Pro386=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901221	NM_032607.3(CREB3L3):c.1377C>T (p.Asp459=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900086	NM_032607.3(CREB3L3):c.1227G>A (p.Ala409=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893102	NM_032607.3(CREB3L3):c.1305C>T (p.Val435=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886151	NM_032607.3(CREB3L3):c.1371G>A (p.Ala457=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2836561	NM_032607.3(CREB3L3):c.1244_1247del (p.Thr415fs)	CREB3L3, LOC125371455 (T414fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2802349	NM_032607.3(CREB3L3):c.1355C>A (p.Ala452Glu)	CREB3L3, LOC125371455 (A452E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784569	NM_032607.3(CREB3L3):c.1334C>A (p.Pro445Gln)	CREB3L3, LOC125371455 (P444Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728077	NM_032607.3(CREB3L3):c.1153C>G (p.Arg385Gly)	CREB3L3, LOC125371455 (R384G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723835	NM_032607.3(CREB3L3):c.1367C>T (p.Ala456Val)	CREB3L3, LOC125371455 (A454V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715270	NM_032607.3(CREB3L3):c.1341T>C (p.Thr447=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712938	NM_032607.3(CREB3L3):c.1175G>A (p.Arg392Gln)	CREB3L3, LOC125371455 (R390Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623689	NM_032607.3(CREB3L3):c.1208G>C (p.Trp403Ser)	CREB3L3, LOC125371455 (W402S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524580	NM_032607.3(CREB3L3):c.1325C>T (p.Ala442Val)	CREB3L3, LOC125371455 (A442V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494118	NM_032607.3(CREB3L3):c.1363G>C (p.Glu455Gln)	CREB3L3, LOC125371455 (E454Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2420231	NM_032607.3(CREB3L3):c.1351C>T (p.Arg451Cys)	CREB3L3, LOC125371455 (R449C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2187816	NM_032607.3(CREB3L3):c.1335G>A (p.Pro445=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2039715	NM_032607.3(CREB3L3):c.1225G>A (p.Ala409Thr)	CREB3L3, LOC125371455 (A409T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1960965	NM_032607.3(CREB3L3):c.1156C>A (p.Pro386Thr)	CREB3L3, LOC125371455 (P386T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956970	NM_032607.3(CREB3L3):c.1259A>G (p.Asn420Ser)	CREB3L3, LOC125371455 (N418S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949838	NM_032607.3(CREB3L3):c.1370C>T (p.Ala457Val)	LOC125371455, CREB3L3 (A456V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1593606	NM_032607.3(CREB3L3):c.1317C>T (p.Asp439=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1565592	NM_032607.3(CREB3L3):c.1197C>T (p.Pro399=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1561602	NM_032607.3(CREB3L3):c.1159G>A (p.Glu387Lys)	CREB3L3, LOC125371455 (E385K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1521621	NM_032607.3(CREB3L3):c.1333C>T (p.Pro445Ser)	CREB3L3, LOC125371455 (P443S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1507235	NM_032607.3(CREB3L3):c.1239T>G (p.Asn413Lys)	CREB3L3, LOC125371455 (N412K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1487913	NM_032607.3(CREB3L3):c.1198G>A (p.Gly400Arg)	CREB3L3, LOC125371455 (G399R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395485	NM_032607.3(CREB3L3):c.1378G>A (p.Glu460Lys)	CREB3L3, LOC125371455 (E458K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1247523	NM_032607.3(CREB3L3):c.*6G>A	CREB3L3, LOC125371455	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 731136	NM_032607.3(CREB3L3):c.1347A>G (p.Ser449=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 714753	NM_032607.3(CREB3L3):c.1245G>A (p.Thr415=)	CREB3L3, LOC125371455	Single nucleotide variant (synonymous variant +1 more)	Hypertriglyceridemia 2 +1 more	GBenign

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Links from Gene

Items: 36