FADS1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign
Select item 2310683	NM_013402.7(FADS1):c.1416G>T (p.Gln472His)	FADS1 (Q472H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277036	NM_013402.7(FADS1):c.1191G>T (p.Met397Ile)	FADS1 (M397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240087	NM_013402.7(FADS1):c.664G>T (p.Val222Leu)	FADS1 (V222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406944	NM_013402.7(FADS1):c.533G>A (p.Arg178Gln)	FADS1 (R178Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602018	NM_013402.7(FADS1):c.532C>T (p.Arg178Trp)	FADS1 (R178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762602	NM_013402.7(FADS1):c.186G>T (p.Pro62=)	FADS2, LOC130005809 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 932508	NM_013402.7(FADS1):c.141T>G (p.Ala47=)	FADS2, LOC130005809 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2361985	NM_013402.7(FADS1):c.116C>G (p.Pro39Arg)	FADS1, FADS2 +1 more (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091558	NM_013402.7(FADS1):c.83G>A (p.Arg28His)	FADS1, FADS2 +1 more (R28H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
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

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Items: 20