FAM72D[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	ACP6, ANKRD34A +212 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +177 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	ACP6, ANKRD34A +182 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +177 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	PRKAB2, RNVU1-27 +168 more	Copy number gain	See cases	GPathogenic
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	LOC129931323, LOC129931324 +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 2394077	NM_207418.3(FAM72D):c.73C>T (p.Leu25Phe)	FAM72D (L25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219587	NM_207418.3(FAM72D):c.136G>A (p.Asp46Asn)	FAM72D (D46N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378331	NM_207418.3(FAM72D):c.179A>G (p.Tyr60Cys)	FAM72D (Y60C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519086	NM_207418.3(FAM72D):c.214A>G (p.Ile72Val)	FAM72D (I72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243329	NM_207418.3(FAM72D):c.303C>A (p.Phe101Leu)	FAM72D (F101L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	FMO5, GABPB2 +103 more	Copy number gain	See cases	GPathogenic
Select item 253484	GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3	ACP6, ANKRD34A +43 more	Copy number gain	See cases	GPathogenic
Select item 151449	GRCh37/hg19 1q21.1(chr1:143753740-144090824)x3	FAM72D, PPIAL4G +1 more	Copy number gain	See cases	GLikely benign
Select item 146685	GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 145865	GRCh37/hg19 1q21.1(chr1:143753740-143984287)x3	FAM72D, PPIAL4G +1 more	Copy number gain	See cases	GLikely benign
Select item 144786	GRCh37/hg19 1q21.1(chr1:143646652-143908838)x1	FAM72D, PPIAL4G	Copy number loss	See cases	GBenign
Select item 59832	GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1	ACP6, ANKRD34A +39 more	Copy number loss	See cases	GPathogenic
Select item 59831	GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1	ACP6, ANKRD34A +37 more	Copy number loss	See cases	GPathogenic
Select item 59718	GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3	ANKRD34A, ANKRD35 +24 more	Copy number gain	See cases	GUncertain significance

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Items: 31