29317[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 152867	GRCh38/hg38 11p12(chr11:36487236-40907935)x1	IFTAP, LINC01493 +22 more	Copy number loss	See cases	GUncertain significance
Select item 152814	GRCh38/hg38 11p12(chr11:36952374-41696829)x1	LINC01493, LINC02741 +12 more	Copy number loss	See cases	GUncertain significance
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 58159	GRCh38/hg38 11p12(chr11:39264515-40780036)x3	LOC126861195, LOC126861196 +1 more	Copy number gain	See cases	GUncertain significance
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +71 more	Copy number loss	See cases	GPathogenic
Select item 3120798	NM_001258419.2(LRRC4C):c.1810C>T (p.Pro604Ser)	LRRC4C (P604S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120797	NM_001258419.2(LRRC4C):c.1771G>A (p.Glu591Lys)	LRRC4C (E591K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328948	NM_001258419.2(LRRC4C):c.1732G>A (p.Asp578Asn)	LRRC4C (D578N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349145	NM_001258419.2(LRRC4C):c.1727C>T (p.Thr576Met)	LRRC4C (T576M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641728	NM_001258419.2(LRRC4C):c.1680C>T (p.His560=)	LRRC4C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3120796	NM_001258419.2(LRRC4C):c.1447G>A (p.Asp483Asn)	LRRC4C (D483N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476384	NM_001258419.2(LRRC4C):c.1438C>T (p.Pro480Ser)	LRRC4C (P480S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120795	NM_001258419.2(LRRC4C):c.1418A>T (p.Asp473Val)	LRRC4C (D473V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291684	NM_001258419.2(LRRC4C):c.1393T>C (p.Ser465Pro)	LRRC4C (S465P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509085	NM_001258419.2(LRRC4C):c.1337C>T (p.Ala446Val)	LRRC4C (A446V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467495	NM_001258419.2(LRRC4C):c.1229C>T (p.Thr410Met)	LRRC4C (T410M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120794	NM_001258419.2(LRRC4C):c.1205G>A (p.Arg402Gln)	LRRC4C (R402Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379427	NM_001258419.2(LRRC4C):c.1193C>T (p.Ala398Val)	LRRC4C (A398V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291686	NM_001258419.2(LRRC4C):c.1093G>A (p.Val365Ile)	LRRC4C (V365I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469405	NM_001258419.2(LRRC4C):c.1091A>G (p.Asn364Ser)	LRRC4C (N364S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120805	NM_001258419.2(LRRC4C):c.965C>T (p.Ser322Leu)	LRRC4C (S322L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632963	NM_001258419.2(LRRC4C):c.873T>A (p.His291Gln)	LRRC4C (H291Q)	Single nucleotide variant (missense variant +1 more)	LRRC4C-related disorder	GUncertain significance
Select item 3120804	NM_001258419.2(LRRC4C):c.863C>T (p.Thr288Ile)	LRRC4C (T288I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120803	NM_001258419.2(LRRC4C):c.823G>A (p.Ala275Thr)	LRRC4C (A275T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120802	NM_001258419.2(LRRC4C):c.779G>A (p.Arg260Gln)	LRRC4C (R260Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208034	NM_001258419.2(LRRC4C):c.766C>A (p.Gln256Lys)	LRRC4C (Q256K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470476	NM_001258419.2(LRRC4C):c.730C>T (p.His244Tyr)	LRRC4C (H244Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314873	NM_001258419.2(LRRC4C):c.698C>A (p.Ala233Asp)	LRRC4C (A233D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245764	NM_001258419.2(LRRC4C):c.698C>T (p.Ala233Val)	LRRC4C (A233V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473888	NM_001258419.2(LRRC4C):c.676C>A (p.Leu226Ile)	LRRC4C (L226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120801	NM_001258419.2(LRRC4C):c.494C>T (p.Ser165Phe)	LRRC4C (S165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120800	NM_001258419.2(LRRC4C):c.474C>A (p.Asn158Lys)	LRRC4C (N158K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120799	NM_001258419.2(LRRC4C):c.415A>G (p.Ile139Val)	LRRC4C (I139V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373098	NM_001258419.2(LRRC4C):c.404G>A (p.Arg135His)	LRRC4C (R135H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476666	NM_001258419.2(LRRC4C):c.220A>G (p.Ile74Val)	LRRC4C (I74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120793	NM_001258419.2(LRRC4C):c.102A>T (p.Gln34His)	LRRC4C (Q34H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050767	NM_001258419.2(LRRC4C):c.8A>C (p.Asn3Thr)	LRRC4C (N3T)	Single nucleotide variant (missense variant +1 more)	LRRC4C-related disorder	GLikely benign
Select item 147287	GRCh38/hg38 11p12(chr11:40318065-40630731)x1	LRRC4C	Copy number loss	See cases	GBenign
Select item 152308	GRCh38/hg38 11p12(chr11:40445373-40738754)x1	LOC126861196, LRRC4C	Copy number loss	See cases	GUncertain significance
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +73 more	Copy number gain	See cases	GUncertain significance
Select item 150703	GRCh38/hg38 11p12(chr11:40858804-41409293)x1	LRRC4C	Copy number loss	See cases	GLikely benign
Select item 148162	GRCh38/hg38 11p12(chr11:40975875-41663216)x1	LINC02741, LRRC4C	Copy number loss	See cases	GUncertain significance
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +258 more	Copy number loss	See cases	GPathogenic
Select item 147476	GRCh38/hg38 11p12(chr11:41409183-42226602)x3	LINC01499, LINC02740 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3063214	GRCh37/hg19 11p12(chr11:40730753-41870949)x3	LRRC4C	Copy number gain	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527639	GRCh37/hg19 11p12(chr11:41256893-42605383)	LRRC4C	Copy number loss	not specified	GUncertain significance
Select item 1527638	GRCh37/hg19 11p12(chr11:40191196-40555598)	LRRC4C	Copy number loss	not specified	GUncertain significance
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979922	GRCh37/hg19 11p12(chr11:40347713-40472149)x1	LRRC4C	Copy number loss	not provided	GUncertain significance
Select item 979921	GRCh37/hg19 11p12(chr11:40071022-40271526)x3	LRRC4C	Copy number gain	not provided	GLikely benign
Select item 815428	GRCh37/hg19 11p12(chr11:40888243-41323683)x1	LRRC4C	Copy number loss	not provided	GUncertain significance
Select item 815427	GRCh37/hg19 11p12(chr11:40831697-41487990)x1	LRRC4C	Copy number loss	not provided	GUncertain significance
Select item 687601	GRCh37/hg19 11p12(chr11:40829347-41488018)x1	LRRC4C	Copy number loss	not provided	GUncertain significance
Select item 563827	GRCh37/hg19 11p12(chr11:40453077-40654733)x1	LRRC4C	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 226213	GRCh37/hg19 11p12(chr11:40567422-40660470)	LRRC4C	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 64