9228[HGNC] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 2457703	NM_003711.4(PLPP1):c.836C>T (p.Pro279Leu)	MTREX, PLPP1 (P280L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3215375	NM_003711.4(PLPP1):c.827A>G (p.Asn276Ser)	MTREX, PLPP1 (N276S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2595172	NM_003711.4(PLPP1):c.826A>T (p.Asn276Tyr)	MTREX, PLPP1 (N276Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2216760	NM_003711.4(PLPP1):c.781G>C (p.Glu261Gln)	MTREX, PLPP1 (E262Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3307819	NM_003711.4(PLPP1):c.679G>A (p.Asp227Asn)	PLPP1 (D228N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348635	NM_003711.4(PLPP1):c.625G>A (p.Val209Ile)	PLPP1 (V210I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215374	NM_003711.4(PLPP1):c.468T>G (p.Asn156Lys)	PLPP1 (N156K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215373	NM_003711.4(PLPP1):c.454A>G (p.Ile152Val)	PLPP1 (I152V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215371	NM_003711.4(PLPP1):c.389T>A (p.Phe130Tyr)	PLPP1 (F130Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307818	NM_003711.4(PLPP1):c.290C>T (p.Thr97Ile)	PLPP1 (T98I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315343	NM_003711.4(PLPP1):c.280T>C (p.Tyr94His)	PLPP1 (Y95H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477995	NM_003711.4(PLPP1):c.59-15560G>A	PLPP1 (V55I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458899	NM_003711.4(PLPP1):c.59-15571A>T	PLPP1 (H51L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608132	NM_003711.4(PLPP1):c.59-15629A>G	PLPP1 (I32V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263332	NM_003711.4(PLPP1):c.54G>C (p.Leu18Phe)	LOC129993899, PLPP1 (L18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215372	NM_003711.4(PLPP1):c.43C>A (p.Leu15Ile)	LOC129993899, PLPP1 (L15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 686769	GRCh37/hg19 5q11.2(chr5:54527018-55436536)x3	ANKRD55, CCNO +7 more	Copy number gain	not provided	GUncertain significance
Select item 686723	GRCh37/hg19 5q11.2(chr5:54623265-54815203)x3	MTREX, PLPP1	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 444853	GRCh37/hg19 5q11.2(chr5:54635880-55019572)x3	MTREX, PLPP1 +1 more	Copy number gain	not provided	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 32