ZNRD2[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 3199169	NM_006396.3(ZNRD2):c.4G>T (p.Ala2Ser)	LOC130006035, ZNRD2 (A2S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2454573	NM_006396.3(ZNRD2):c.13G>A (p.Gly5Arg)	LOC130006035, ZNRD2 (G5R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 787913	NM_006396.3(ZNRD2):c.19+10T>C	LOC130006035, ZNRD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 789489	NM_006396.3(ZNRD2):c.62C>T (p.Thr21Met)	LOC130006036, ZNRD2 (T21M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3199167	NM_006396.3(ZNRD2):c.262A>C (p.Asn88His)	ZNRD2 (N88H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536492	NM_006396.3(ZNRD2):c.362G>T (p.Arg121Leu)	ZNRD2 (R84L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536311	NM_006396.3(ZNRD2):c.370C>T (p.His124Tyr)	ZNRD2 (H87Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623890	NM_006396.3(ZNRD2):c.404C>T (p.Ala135Val)	ZNRD2 (A98V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199168	NM_006396.3(ZNRD2):c.424G>C (p.Ala142Pro)	ZNRD2 (A142P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259943	NM_006396.3(ZNRD2):c.499G>C (p.Glu167Gln)	ZNRD2 (E167Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199170	NM_006396.3(ZNRD2):c.578G>T (p.Ser193Ile)	ZNRD2 (S156I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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: 26