NPFF[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 980437	GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	AAAS, PCBP2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 25