7704[Gene ID] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 3035191	NM_006006.6(ZBTB16):c.31C>T (p.Leu11=)	ZBTB16	Single nucleotide variant (synonymous variant)	ZBTB16-related disorder	GLikely benign
Select item 2642385	NM_006006.6(ZBTB16):c.90C>T (p.Ala30=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049074	NM_006006.6(ZBTB16):c.207C>T (p.His69=)	ZBTB16	Single nucleotide variant (synonymous variant)	ZBTB16-related disorder	GLikely benign
Select item 758175	NM_006006.6(ZBTB16):c.261A>G (p.Ala87=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776658	NM_006006.6(ZBTB16):c.399G>A (p.Thr133=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756408	NM_006006.6(ZBTB16):c.402G>A (p.Glu134=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642386	NM_006006.6(ZBTB16):c.414C>T (p.Ala138=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749497	NM_006006.6(ZBTB16):c.426C>T (p.Ala142=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3191910	NM_006006.6(ZBTB16):c.442C>T (p.Arg148Cys)	ZBTB16 (R148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690875	NM_006006.6(ZBTB16):c.443G>A (p.Arg148His)	ZBTB16 (R148H)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2319647	NM_006006.6(ZBTB16):c.457C>G (p.Leu153Val)	ZBTB16 (L153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333853	NM_006006.6(ZBTB16):c.490G>C (p.Glu164Gln)	ZBTB16 (E164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191911	NM_006006.6(ZBTB16):c.529C>T (p.Pro177Ser)	ZBTB16 (P177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053037	NM_006006.6(ZBTB16):c.565A>G (p.Thr189Ala)	ZBTB16 (T189A)	Single nucleotide variant (missense variant)	ZBTB16-related disorder	GLikely benign
Select item 2399573	NM_006006.6(ZBTB16):c.590G>A (p.Ser197Asn)	ZBTB16 (S197N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731188	NM_006006.6(ZBTB16):c.672C>G (p.Pro224=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725864	NM_006006.6(ZBTB16):c.672C>T (p.Pro224=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3191912	NM_006006.6(ZBTB16):c.678G>C (p.Glu226Asp)	ZBTB16 (E226D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333852	NM_006006.6(ZBTB16):c.683C>T (p.Thr228Ile)	ZBTB16 (T228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191913	NM_006006.6(ZBTB16):c.700C>T (p.Arg234Trp)	ZBTB16 (R234W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265202	NM_006006.6(ZBTB16):c.704A>G (p.His235Arg)	ZBTB16 (H235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398778	NM_006006.6(ZBTB16):c.728C>T (p.Thr243Met)	ZBTB16 (T243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740081	NM_006006.6(ZBTB16):c.756C>T (p.Pro252=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191915	NM_006006.6(ZBTB16):c.757A>G (p.Ser253Gly)	ZBTB16 (S253G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460898	NM_006006.6(ZBTB16):c.772G>A (p.Gly258Arg)	ZBTB16 (G258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744592	NM_006006.6(ZBTB16):c.780C>T (p.Ala260=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731654	NM_006006.6(ZBTB16):c.813G>A (p.Lys271=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191916	NM_006006.6(ZBTB16):c.923C>A (p.Pro308His)	ZBTB16 (P308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724498	NM_006006.6(ZBTB16):c.939C>T (p.Gly313=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524744	NM_006006.6(ZBTB16):c.977C>T (p.Pro326Leu)	ZBTB16 (P326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731619	NM_006006.6(ZBTB16):c.1005C>T (p.Ser335=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2404889	NM_006006.6(ZBTB16):c.1006G>A (p.Val336Met)	ZBTB16 (V336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047741	NM_006006.6(ZBTB16):c.1029C>T (p.Asp343=)	ZBTB16	Single nucleotide variant (synonymous variant)	ZBTB16-related disorder	GLikely benign
Select item 2550293	NM_006006.6(ZBTB16):c.1030G>A (p.Ala344Thr)	ZBTB16 (A344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737328	NM_006006.6(ZBTB16):c.1047G>A (p.Pro349=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784657	NM_006006.6(ZBTB16):c.1072G>A (p.Val358Met)	ZBTB16 (V358M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2264469	NM_006006.6(ZBTB16):c.1084C>A (p.Leu362Met)	ZBTB16 (L362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743036	NM_006006.6(ZBTB16):c.1176T>C (p.Ala392=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591342	NM_006006.6(ZBTB16):c.1183A>G (p.Met395Val)	ZBTB16 (M395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191905	NM_006006.6(ZBTB16):c.1204A>T (p.Ile402Phe)	ZBTB16 (I402F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191904	NM_006006.6(ZBTB16):c.1204A>G (p.Ile402Val)	ZBTB16 (I402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395313	NM_006006.6(ZBTB16):c.1222G>A (p.Val408Met)	ZBTB16 (V408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535772	NM_006006.6(ZBTB16):c.1229G>A (p.Gly410Glu)	ZBTB16 (G410E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717252	NM_006006.6(ZBTB16):c.1248C>T (p.Asn416=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2642387	NM_006006.6(ZBTB16):c.1269-3228A>G	ZBTB16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730951	NM_006006.6(ZBTB16):c.1293G>A (p.Thr431=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245596	NM_006006.6(ZBTB16):c.1303G>A (p.Glu435Lys)	ZBTB16 (E435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053610	NM_006006.6(ZBTB16):c.1398C>T (p.Cys466=)	ZBTB16	Single nucleotide variant (synonymous variant +1 more)	ZBTB16-related disorder	GLikely benign
Select item 3191906	NM_006006.6(ZBTB16):c.1463T>C (p.Met488Thr)	ZBTB16 (M488T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191907	NM_006006.6(ZBTB16):c.1481T>C (p.Leu494Pro)	ZBTB16 (L465P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191908	NM_006006.6(ZBTB16):c.1493G>A (p.Arg498His)	ZBTB16 (R469H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773254	NM_006006.6(ZBTB16):c.1542C>T (p.Gly514=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745326	NM_006006.6(ZBTB16):c.1624+7C>G	ZBTB16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642388	NM_006006.6(ZBTB16):c.1626C>T (p.Gly542=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191909	NM_006006.6(ZBTB16):c.1699A>C (p.Ile567Leu)	ZBTB16 (I567L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 13376	NM_006006.6(ZBTB16):c.1849A>G (p.Met617Val)	ZBTB16 (M617V +1 more)	Single nucleotide variant (missense variant)	Skeletal defects, genital hypoplasia, and intellectual disability	GUncertain significance
Select item 806739	NM_006006.6(ZBTB16):c.1883C>T (p.Ser628Leu)	ZBTB16 (S628L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335085	NM_006006.6(ZBTB16):c.1998G>A (p.Thr666=)	ZBTB16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047334	NM_006006.6(ZBTB16):c.2004C>T (p.Leu668=)	ZBTB16	Single nucleotide variant (synonymous variant)	ZBTB16-related disorder	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 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 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
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 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
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

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Items: 76