LOC130006618[gene] - ClinVar

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Items: 32

	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 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 1391979	NM_014679.5(CEP57):c.3G>A (p.Met1Ile)	CEP57, LOC130006618 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 240921	NM_014679.5(CEP57):c.4G>A (p.Ala2Thr)	CEP57, LOC130006618 (A2T)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1409051	NM_014679.5(CEP57):c.8C>T (p.Ala3Val)	CEP57, LOC130006618 (A3V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1428423	NM_014679.5(CEP57):c.11C>G (p.Ala4Gly)	CEP57, LOC130006618 (A4G)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1602624	NM_014679.5(CEP57):c.15T>G (p.Ser5=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2169972	NM_014679.5(CEP57):c.20_21del (p.Ser7fs)	CEP57, LOC130006618 (S7fs)	Microsatellite (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GPathogenic
Select item 1901739	NM_014679.5(CEP57):c.18C>G (p.Val6=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2730561	NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)	CEP57, LOC130006618 (S7F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2145435	NM_014679.5(CEP57):c.21T>C (p.Ser7=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 539592	NM_014679.5(CEP57):c.23C>T (p.Ala8Val)	CEP57, LOC130006618 (A8V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 642617	NM_014679.5(CEP57):c.25G>A (p.Ala9Thr)	CEP57, LOC130006618 (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 539589	NM_014679.5(CEP57):c.26C>T (p.Ala9Val)	CEP57, LOC130006618 (A9V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1510132	NM_014679.5(CEP57):c.29C>T (p.Ser10Phe)	CEP57, LOC130006618 (S10F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 971868	NM_014679.5(CEP57):c.31G>C (p.Gly11Arg)	CEP57, LOC130006618 (G11R)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1055005	NM_014679.5(CEP57):c.32G>T (p.Gly11Val)	CEP57, LOC130006618 (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2149924	NM_014679.5(CEP57):c.33T>G (p.Gly11=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2144200	NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)	CEP57, LOC130006618 (S12F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 735100	NM_014679.5(CEP57):c.36T>A (p.Ser12=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1472900	NM_014679.5(CEP57):c.37C>T (p.His13Tyr)	CEP57, LOC130006618 (H13Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 836256	NM_014679.5(CEP57):c.39C>G (p.His13Gln)	CEP57, LOC130006618 (H13Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2138896	NM_014679.5(CEP57):c.42G>A (p.Leu14=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2040895	NM_014679.5(CEP57):c.44C>T (p.Ser15Leu)	CEP57, LOC130006618 (S15L)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2033829	NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG	CEP57, LOC130006618	Microsatellite (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1492234	NM_014679.5(CEP57):c.45+5G>A	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1415013	NM_014679.5(CEP57):c.45+16C>T	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 3007865	NM_014679.5(CEP57):c.45+17G>A	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2075749	NM_014679.5(CEP57):c.45+17G>C	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign

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Items: 32