3575[HGNC] - ClinVar

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Items: 27

	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 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=)	FADS1, FADS2 +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 3091560	NM_004265.4(FADS2):c.40C>T (p.Arg14Cys)	FADS2 (R14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1269746	NM_004265.4(FADS2):c.208-3247C>G	FADS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162046	NM_004265.4(FADS2):c.208-2713_208-2692del	FADS2	Microsatellite (intron variant)	not provided	Gnot provided
Select item 2387318	NM_004265.4(FADS2):c.217C>T (p.Arg73Cys)	FADS2 (R42C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091561	NM_004265.4(FADS2):c.466A>C (p.Asn156His)	FADS2 (N134H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277038	NM_004265.4(FADS2):c.601G>A (p.Val201Ile)	FADS2 (V201I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780977	NM_004265.4(FADS2):c.663C>T (p.His221=)	FADS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733818	NM_004265.4(FADS2):c.744+4C>T	FADS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2290062	NM_004265.4(FADS2):c.910A>G (p.Ile304Val)	FADS2 (I304V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277039	NM_004265.4(FADS2):c.1202C>T (p.Pro401Leu)	FADS2 (P401L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240575	NM_004265.4(FADS2):c.1222G>T (p.Ala408Ser)	FADS2 (A377S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091559	NM_004265.4(FADS2):c.1234A>G (p.Ile412Val)	FADS2 (I381V +2 more)	Single nucleotide variant (missense variant)	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: 27