7022[Gene ID] - ClinVar

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Items: 35

	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 58999	GRCh38/hg38 20q13.31(chr20:56566357-56729742)x3	LINC01716, LOC125387309 +4 more	Copy number gain	See cases	GUncertain significance
Select item 3176446	NM_003222.4(TFAP2C):c.121A>G (p.Ser41Gly)	TFAP2C (S41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777549	NM_003222.4(TFAP2C):c.123C>T (p.Ser41=)	TFAP2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3325593	NM_003222.4(TFAP2C):c.133C>G (p.Pro45Ala)	TFAP2C (P45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325594	NM_003222.4(TFAP2C):c.161A>T (p.Tyr54Phe)	TFAP2C (Y54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243297	NM_003222.4(TFAP2C):c.277C>A (p.Pro93Thr)	TFAP2C (P93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278377	NM_003222.4(TFAP2C):c.335C>T (p.Ala112Val)	TFAP2C (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176447	NM_003222.4(TFAP2C):c.347C>G (p.Ser116Trp)	TFAP2C (S116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176448	NM_003222.4(TFAP2C):c.406G>T (p.Val136Leu)	TFAP2C (V136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364664	NM_003222.4(TFAP2C):c.406G>C (p.Val136Leu)	TFAP2C (V136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538646	NM_003222.4(TFAP2C):c.485C>T (p.Ala162Val)	TFAP2C (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813710	NM_003222.4(TFAP2C):c.499C>T (p.Leu167Phe)	TFAP2C (L167F)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 3176449	NM_003222.4(TFAP2C):c.518A>G (p.Gln173Arg)	TFAP2C (Q173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813626	NM_003222.4(TFAP2C):c.539T>C (p.Val180Ala)	TFAP2C (V180A)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 3325595	NM_003222.4(TFAP2C):c.652A>G (p.Met218Val)	TFAP2C (M218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271522	NM_003222.4(TFAP2C):c.869C>T (p.Pro290Leu)	TFAP2C (P290L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314157	NM_003222.4(TFAP2C):c.1133T>A (p.Leu378His)	TFAP2C (L378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620195	NM_003222.4(TFAP2C):c.1165T>C (p.Cys389Arg)	TFAP2C (C389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381212	NM_003222.4(TFAP2C):c.1165T>G (p.Cys389Gly)	TFAP2C (C389G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325592	NM_003222.4(TFAP2C):c.1289C>G (p.Pro430Arg)	TFAP2C (P430R)	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 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: 35