ClinVar for Gene (Select 10447) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277423	NM_014888.3(FAM3C):c.605A>G (p.Asn202Ser)	FAM3C (N202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277422	NM_014888.3(FAM3C):c.556G>A (p.Gly186Ser)	FAM3C (G186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092414	NM_014888.3(FAM3C):c.7G>A (p.Val3Ile)	FAM3C (V3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092413	NM_014888.3(FAM3C):c.568A>G (p.Ile190Val)	FAM3C (I190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092412	NM_014888.3(FAM3C):c.438A>C (p.Leu146Phe)	FAM3C (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2624122	NM_014888.3(FAM3C):c.112C>G (p.Leu38Val)	FAM3C (L38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344068	NM_014888.3(FAM3C):c.607A>G (p.Asn203Asp)	FAM3C (N203D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279757	NM_014888.3(FAM3C):c.391C>G (p.Pro131Ala)	FAM3C (P131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262846	NM_014888.3(FAM3C):c.572A>G (p.Lys191Arg)	FAM3C (K191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255946	NM_014888.3(FAM3C):c.276A>C (p.Leu92Phe)	FAM3C (L92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1340117	GRCh37/hg19 7q31.31(chr7:120813156-121033289)x1	CPED1, FAM3C +1 more	Copy number loss	not provided	GUncertain significance
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 689142	GRCh37/hg19 7q31.31(chr7:120818380-121033193)x1	CPED1, FAM3C +1 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442628	GRCh37/hg19 7q31.31(chr7:120864414-121086762)x1	CPED1, FAM3C +1 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33