CHN2[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 152714	GRCh38/hg38 7p14.3(chr7:29030620-29796236)x1	CHN2, CHN2-AS1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 3040110	NM_001398427.1(CHN2):c.-646G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3029181	NM_001398427.1(CHN2):c.-601C>T	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3035343	NM_001398427.1(CHN2):c.-511T>G	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GBenign
Select item 3039915	NM_001398427.1(CHN2):c.-501-8C>T	CHN2, CPVL	Single nucleotide variant (intron variant)	CHN2-related disorder	GBenign
Select item 3051277	NM_001398427.1(CHN2):c.-442T>C	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 3041465	NM_004067.4(CHN2):c.-6G>A	CHN2, CPVL	Single nucleotide variant (5 prime UTR variant +1 more)	CHN2-related disorder	GLikely benign
Select item 2553513	NM_004067.4(CHN2):c.17A>C (p.Asn6Thr)	CHN2, CPVL (N6T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1801399	NM_004067.4(CHN2):c.49+68970_49+69013del	CHN2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 3038773	NM_004067.4(CHN2):c.50-61702A>T	CHN2	Single nucleotide variant (intron variant +1 more)	CHN2-related disorder	GBenign
Select item 3267082	NM_004067.4(CHN2):c.85T>A (p.Tyr29Asn)	CHN2 (H12Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801400	NM_004067.4(CHN2):c.88+5444_88+5482del	CHN2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 3068173	NM_004067.4(CHN2):c.91T>C (p.Tyr31His)	CHN2 (Y16H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2307556	NM_004067.4(CHN2):c.259C>T (p.Arg87Trp)	CHN2 (R52W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053382	NM_004067.4(CHN2):c.291-7C>T	CHN2	Single nucleotide variant (intron variant)	CHN2-related disorder	GBenign
Select item 2237796	NM_004067.4(CHN2):c.406A>G (p.Ile136Val)	CHN2 (I136V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144482	NM_004067.4(CHN2):c.445A>G (p.Thr149Ala)	CHN2 (T134A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051779	NM_004067.4(CHN2):c.472delinsATCC (p.Tyr158delinsIleHis)	CHN2	Indel (inframe_indel)	CHN2-related disorder	GUncertain significance
Select item 2411065	NM_004067.4(CHN2):c.497T>C (p.Val166Ala)	CHN2 (V166A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267081	NM_004067.4(CHN2):c.715A>G (p.Ile239Val)	CHN2 (I58V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033891	NM_004067.4(CHN2):c.834C>T (p.Asp278=)	CHN2	Single nucleotide variant (synonymous variant +2 more)	CHN2-related disorder	GBenign
Select item 2612453	NM_004067.4(CHN2):c.870A>C (p.Arg290Ser)	CHN2 (R144S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403357	NM_004067.4(CHN2):c.896G>A (p.Arg299Gln)	CHN2 (R118Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3050151	NM_004067.4(CHN2):c.914-22TC[6]	CHN2	Microsatellite (intron variant)	CHN2-related disorder	GLikely benign
Select item 2613064	NM_004067.4(CHN2):c.962T>A (p.Ile321Asn)	CHN2 (I127N +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3048142	NM_004067.4(CHN2):c.1005C>T (p.Ala335=)	CHN2	Single nucleotide variant (synonymous variant +2 more)	CHN2-related disorder	GLikely benign
Select item 3035515	NM_004067.4(CHN2):c.1006G>A (p.Asp336Asn)	CHN2 (D129N +8 more)	Single nucleotide variant (missense variant +2 more)	CHN2-related disorder	GLikely benign
Select item 2363488	NM_004067.4(CHN2):c.1139A>G (p.Asn380Ser)	CHN2 (N153S +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381741	NM_004067.4(CHN2):c.1147G>A (p.Glu383Lys)	CHN2 (E156K +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3042613	NM_004067.4(CHN2):c.1161C>T (p.Ala387=)	CHN2	Single nucleotide variant (synonymous variant +2 more)	CHN2-related disorder	GLikely benign
Select item 3144481	NM_004067.4(CHN2):c.1210C>T (p.Arg404Trp)	CHN2 (R210W +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206135	NM_004067.4(CHN2):c.1232A>G (p.Lys411Arg)	CHN2 (K171R +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373648	NM_004067.4(CHN2):c.1249G>A (p.Glu417Lys)	CHN2, PRR15-DT (E177K +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3060363	NM_004067.4(CHN2):c.1269T>C (p.Asn423=)	CHN2, PRR15-DT	Single nucleotide variant (non-coding transcript variant +2 more)	CHN2-related disorder	GBenign
Select item 2604865	NM_004067.4(CHN2):c.1288G>A (p.Val430Met)	CHN2, PRR15-DT (V190M +12 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 776213	NM_004067.4(CHN2):c.1312C>T (p.Pro438Ser)	CHN2, PRR15-DT (P211S +12 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3065517	NM_004067.4(CHN2):c.1381A>G (p.Ile461Val)	CHN2, PRR15-DT (I221V +12 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuropathy, congenital hypomyelinating, 2	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 563338	GRCh37/hg19 7p14.3(chr7:29208774-29538994)x3	CHN2	Copy number gain	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395624	GRCh37/hg19 7p14.3(chr7:29253743-29522760)x3	CHN2	Copy number gain	See cases	GUncertain significance
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221823	GRCh37/hg19 7p14.3(chr7:29209361-29535998)x3	CHN2	Copy number gain	Premature ovarian failure	GBenign

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Items: 64