ATF7-NPFF[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 2231581	NM_003717.4(NPFF):c.317C>T (p.Ala106Val)	ATF7-NPFF, NPFF (A106V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3300771	NM_003717.4(NPFF):c.271C>G (p.Pro91Ala)	ATF7-NPFF, NPFF (P94A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 776710	NM_003717.4(NPFF):c.262T>C (p.Trp88Arg)	ATF7-NPFF, NPFF (W88R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 758238	NM_003717.4(NPFF):c.236A>G (p.Asn79Ser)	ATF7-NPFF, NPFF (N82S +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2282990	NM_003717.4(NPFF):c.227T>C (p.Phe76Ser)	ATF7-NPFF, NPFF (F79S +1 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3201624	NM_003717.4(NPFF):c.194G>A (p.Arg65Gln)	ATF7-NPFF, NPFF (R65Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3300772	NM_003717.4(NPFF):c.143C>T (p.Thr48Ile)	ATF7-NPFF, NPFF (T51I +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2228452	NM_003717.4(NPFF):c.109G>C (p.Asp37His)	ATF7-NPFF, NPFF (D37H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350276	NM_003717.4(NPFF):c.52G>A (p.Gly18Arg)	ATF7-NPFF, NPFF (G18R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2354647	NM_003717.4(NPFF):c.49G>T (p.Asp17Tyr)	ATF7-NPFF, NPFF (D17Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2279560	NM_003717.4(NPFF):c.14A>G (p.Gln5Arg)	ATF7-NPFF, NPFF (Q5R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2265141	NM_003717.4(NPFF):c.11G>C (p.Arg4Thr)	ATF7-NPFF, NPFF (R4T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 776711	NM_006856.3(ATF7):c.1035A>G (p.Ala345=)	ATF7, ATF7-NPFF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign