28759[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 710124	NM_033395.2(CEP295):c.7768-10C>T	CEP295, TAF1D	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2378807	NM_033395.2(CEP295):c.7772C>G (p.Thr2591Arg)	CEP295, TAF1D (T2591R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2623498	NM_024116.4(TAF1D):c.815G>A (p.Gly272Glu)	TAF1D (G272E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485821	NM_024116.4(TAF1D):c.758A>G (p.Asp253Gly)	TAF1D (D253G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603517	NM_024116.4(TAF1D):c.673G>A (p.Glu225Lys)	TAF1D (E225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395025	NM_024116.4(TAF1D):c.634A>G (p.Thr212Ala)	TAF1D (T212A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472557	NM_024116.4(TAF1D):c.619C>T (p.Pro207Ser)	TAF1D (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173456	NM_024116.4(TAF1D):c.505T>C (p.Tyr169His)	TAF1D (Y169H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308852	NM_024116.4(TAF1D):c.487T>C (p.Tyr163His)	TAF1D (Y163H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262458	NM_024116.4(TAF1D):c.454T>C (p.Phe152Leu)	LOC126861295, TAF1D (F152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542561	NM_024116.4(TAF1D):c.430G>T (p.Ala144Ser)	LOC126861295, TAF1D (A144S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173455	NM_024116.4(TAF1D):c.421G>A (p.Glu141Lys)	LOC126861295, TAF1D (E141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173453	NM_024116.4(TAF1D):c.389G>A (p.Gly130Glu)	LOC126861295, TAF1D (G130E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490727	NM_024116.4(TAF1D):c.389G>C (p.Gly130Ala)	LOC126861295, TAF1D (G130A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466045	NM_024116.4(TAF1D):c.317G>A (p.Arg106Gln)	LOC126861295, TAF1D (R106Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281807	NM_024116.4(TAF1D):c.250T>G (p.Phe84Val)	LOC126861295, TAF1D (F84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173451	NM_024116.4(TAF1D):c.193T>G (p.Ser65Ala)	LOC126861295, TAF1D (S65A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365184	NM_024116.4(TAF1D):c.167C>T (p.Pro56Leu)	LOC126861295, TAF1D (P56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173449	NM_024116.4(TAF1D):c.161G>A (p.Arg54His)	LOC126861295, TAF1D (R54H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380810	NM_024116.4(TAF1D):c.142C>T (p.Pro48Ser)	LOC126861295, TAF1D (P48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173454	NM_024116.4(TAF1D):c.41C>T (p.Ser14Phe)	TAF1D (S14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173452	NM_024116.4(TAF1D):c.25C>T (p.Leu9Phe)	TAF1D (L9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685417	GRCh37/hg19 11q21(chr11:93454394-93535046)x1	C11orf54, CEP295 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1809508	GRCh37/hg19 11q21(chr11:92875858-93489964)x3	C11orf54, CEP295 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527662	GRCh37/hg19 11q21(chr11:93434593-93506496)	C11orf54, CEP295 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340172	GRCh37/hg19 11q21(chr11:93468349-93587129)x1	C11orf54, MED17 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980968	GRCh37/hg19 11q14.3-21(chr11:92615227-93592229)x3	C11orf54, CEP295 +8 more	Copy number gain	not provided	GUncertain significance
Select item 815457	GRCh37/hg19 11q21(chr11:93297444-94041273)x3	PANX1, CEP295 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 44