FAM209A[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 2410810	NM_001012971.4(FAM209A):c.8C>T (p.Thr3Met)	FAM209A, GCNT7 (T3M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092243	NM_001012971.4(FAM209A):c.20C>T (p.Ser7Phe)	FAM209A, GCNT7 (S7F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458858	NM_001012971.4(FAM209A):c.98A>G (p.Gln33Arg)	FAM209A, GCNT7 (Q33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385893	NM_001012971.4(FAM209A):c.133C>T (p.Arg45Trp)	FAM209A, GCNT7 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358762	NM_001012971.4(FAM209A):c.319C>T (p.Pro107Ser)	FAM209A, GCNT7 (P107S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528468	NM_001012971.4(FAM209A):c.340A>G (p.Asn114Asp)	FAM209A, GCNT7 (N114D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300956	NM_001012971.4(FAM209A):c.392G>A (p.Arg131Gln)	FAM209A (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329669	NM_001012971.4(FAM209A):c.400A>C (p.Lys134Gln)	FAM209A (K134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208779	NM_001012971.4(FAM209A):c.407C>T (p.Ala136Val)	FAM209A (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339811	NM_001012971.4(FAM209A):c.413C>A (p.Ala138Glu)	FAM209A (A138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226713	NM_001012971.4(FAM209A):c.447G>C (p.Lys149Asn)	FAM209A (K149N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349733	NM_001012971.4(FAM209A):c.493T>C (p.Trp165Arg)	FAM209A (W165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356281	NM_001012971.4(FAM209A):c.505A>G (p.Ser169Gly)	FAM209A (S169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092245	NM_001013646.4(FAM209B):c.88A>G (p.Ser30Gly)	FAM209A, FAM209B (S30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302932	NM_001013646.4(FAM209B):c.89G>T (p.Ser30Ile)	FAM209A, FAM209B (S30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092244	NM_001013646.4(FAM209B):c.140A>G (p.Asn47Ser)	FAM209A, FAM209B (N47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491441	NM_001013646.4(FAM209B):c.154A>G (p.Thr52Ala)	FAM209A, FAM209B (T52A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485612	NM_001013646.4(FAM209B):c.176A>G (p.Lys59Arg)	FAM209A, FAM209B (K59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1809070	GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	AURKA, BCAS1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442642	GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3	AURKA, CASS4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 34