TFAP2D[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 2326436	NM_172238.4(TFAP2D):c.101C>T (p.Ala34Val)	TFAP2D (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597254	NM_172238.4(TFAP2D):c.245A>G (p.His82Arg)	TFAP2D (H82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325596	NM_172238.4(TFAP2D):c.443T>C (p.Met148Thr)	TFAP2D (M148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473124	NM_172238.4(TFAP2D):c.484C>T (p.Leu162Phe)	TFAP2D (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558552	NM_172238.4(TFAP2D):c.528C>G (p.Asp176Glu)	TFAP2D (D176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330675	NM_172238.4(TFAP2D):c.596G>T (p.Arg199Ile)	TFAP2D (R199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782104	NM_172238.4(TFAP2D):c.798A>G (p.Arg266=)	TFAP2D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786536	NM_172238.4(TFAP2D):c.1002A>G (p.Arg334=)	TFAP2D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622821	NM_172238.4(TFAP2D):c.1049A>G (p.Asp350Gly)	TFAP2D (D350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402737	NM_172238.4(TFAP2D):c.1204C>A (p.Leu402Ile)	TFAP2D (L402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545021	NM_172238.4(TFAP2D):c.1214T>G (p.Met405Arg)	TFAP2D (M405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349154	NM_172238.4(TFAP2D):c.1262C>T (p.Ala421Val)	TFAP2D (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325597	NM_172238.4(TFAP2D):c.1281T>A (p.His427Gln)	TFAP2D (H427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176451	NM_172238.4(TFAP2D):c.1286A>C (p.Asn429Thr)	TFAP2D (N429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325598	NM_172238.4(TFAP2D):c.1297G>A (p.Ala433Thr)	TFAP2D (A433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535634	NM_172238.4(TFAP2D):c.1297G>T (p.Ala433Ser)	TFAP2D (A433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1455701	NC_000006.11:g.(?_50011288)_(50812180_?)del	DEFB112, TFAP2B +1 more	Deletion	not provided	GPathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 814812	GRCh37/hg19 6p12.3(chr6:50163137-50737817)x1	TFAP2D	Copy number loss	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442939	GRCh37/hg19 6p12.3(chr6:50516276-51285647)x3	TFAP2B, TFAP2D	Copy number gain	See cases	GLikely benign

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Items: 28