ClinVar for Gene (Select 100996758) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340115	NM_001395253.1(NPY4R2):c.1047= (p.Ser349=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340114	NM_001395253.1(NPY4R2):c.948= (p.Cys316=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340113	NM_001395253.1(NPY4R2):c.897= (p.His299=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340112	NM_001395253.1(NPY4R2):c.718C>T (p.Arg240Cys)	ANXA8, NPY4R2 (R240C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3340111	NM_001395253.1(NPY4R2):c.691= (p.Leu231=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3340110	NM_001395253.1(NPY4R2):c.295G>T (p.Ala99Ser)	ANXA8, NPY4R2 (A99S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3340109	NM_001395253.1(NPY4R2):c.234G>C (p.Leu78=)	ANXA8, NPY4R2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3340108	NM_001395253.1(NPY4R2):c.132= (p.Ile44=)	ANXA8, NPY4R2	Variation (no sequence alteration)	not provided	GBenign
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 2672396	NM_001395253.1(NPY4R2):c.716G>A (p.Arg239Gln)	ANXA8, NPY4R2 (R239Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640433	NM_001395253.1(NPY4R2):c.715C>T (p.Arg239Trp)	ANXA8, NPY4R2 (R239W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 161043	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 161022	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 160988	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154978	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 154864	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154844	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 154430	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP9, ANXA8 +29 more	Copy number gain	See cases	GBenign
Select item 154420	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 154419	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 153030	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 150698	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 150663	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150650	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP10, AGAP9 +35 more	Copy number gain	See cases	GBenign
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 150472	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150205	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149982	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 149897	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 148137	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 148134	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 148133	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 148103	GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3	AGAP10, AGAP9 +36 more	Copy number gain	See cases	GBenign
Select item 147214	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146825	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP9, ANTXRL +34 more	Copy number gain	See cases	GBenign
Select item 146806	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 146805	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 146700	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145488	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145473	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 145472	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign/Likely benign
Select item 145457	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 145409	GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3	SYT15B, ZNF488 +26 more	Copy number gain	See cases	GBenign
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 144481	GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1	AGAP10, AGAP9 +28 more	Copy number loss	See cases	GLikely benign
Select item 144354	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 144187	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 33676	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32955	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1	AGAP9, ANXA8 +29 more	Copy number loss	See cases	GBenign
Select item 32820	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32321	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 32317	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 31951	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	GDF2, GPRIN2 +34 more	Copy number loss	See cases	GBenign

ClinVar

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Germline classification

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Links from Gene

Items: 71