FADS6[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3091568	NM_178128.6(FADS6):c.1078C>T (p.Pro360Ser)	FADS6 (P360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223094	NM_178128.6(FADS6):c.1067T>C (p.Met356Thr)	FADS6 (M356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519618	NM_178128.6(FADS6):c.1049G>A (p.Arg350His)	FADS6 (R350H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091580	NM_178128.6(FADS6):c.998A>G (p.Gln333Arg)	FADS6 (Q333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277047	NM_178128.6(FADS6):c.973G>A (p.Val325Met)	FADS6 (V325M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277044	NM_178128.6(FADS6):c.884C>T (p.Ala295Val)	FADS6 (A295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091578	NM_178128.6(FADS6):c.824G>T (p.Arg275Leu)	FADS6 (R275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343584	NM_178128.6(FADS6):c.824G>A (p.Arg275Gln)	FADS6 (R275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260531	NM_178128.6(FADS6):c.823C>T (p.Arg275Trp)	FADS6 (R275W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091577	NM_178128.6(FADS6):c.820C>T (p.Arg274Cys)	FADS6 (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091576	NM_178128.6(FADS6):c.797T>C (p.Met266Thr)	FADS6 (M266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091575	NM_178128.6(FADS6):c.754C>T (p.Pro252Ser)	FADS6 (P252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239016	NM_178128.6(FADS6):c.748G>A (p.Ala250Thr)	FADS6 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285714	NM_178128.6(FADS6):c.722G>A (p.Cys241Tyr)	FADS6 (C241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319311	NM_178128.6(FADS6):c.629G>A (p.Arg210Gln)	FADS6 (R210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588050	NM_178128.6(FADS6):c.628C>T (p.Arg210Trp)	FADS6 (R210W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091574	NM_178128.6(FADS6):c.595C>T (p.Arg199Trp)	FADS6 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297132	NM_178128.6(FADS6):c.593A>G (p.Glu198Gly)	FADS6 (E198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277050	NM_178128.6(FADS6):c.551C>T (p.Ala184Val)	FADS6 (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320528	NM_178128.6(FADS6):c.541A>G (p.Met181Val)	FADS6 (M181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277043	NM_178128.6(FADS6):c.530G>A (p.Arg177His)	FADS6 (R177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091573	NM_178128.6(FADS6):c.527A>G (p.Asn176Ser)	FADS6 (N176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277046	NM_178128.6(FADS6):c.506C>T (p.Thr169Met)	FADS6 (T169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618554	NM_178128.6(FADS6):c.454G>A (p.Val152Ile)	FADS6 (V152I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091571	NM_178128.6(FADS6):c.281T>C (p.Phe94Ser)	FADS6 (F94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406877	NM_178128.6(FADS6):c.260G>T (p.Arg87Leu)	FADS6 (R87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091570	NM_178128.6(FADS6):c.211A>G (p.Ile71Val)	FADS6 (I71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277045	NM_178128.6(FADS6):c.191G>A (p.Arg64His)	FADS6 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091569	NM_178128.6(FADS6):c.163G>A (p.Val55Met)	FADS6 (V55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350381	NM_178128.6(FADS6):c.149T>C (p.Val50Ala)	FADS6 (V50A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091579	NM_178128.6(FADS6):c.147G>C (p.Glu49Asp)	FADS6 (E49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259413	NM_178128.6(FADS6):c.98C>A (p.Pro33Gln)	FADS6 (P33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548327	NM_178128.6(FADS6):c.79C>T (p.Pro27Ser)	FADS6 (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403737	NM_178128.6(FADS6):c.74T>A (p.Met25Lys)	FADS6 (M25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 48