VIPR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999755, LOC129999756 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	LOC105375556, LOC105375589 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	ABCB8, ABCF2 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC126860247, LOC126860248 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	LOC129999582, LOC129999583 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	LOC129999632, LOC129999633 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	RBM33, RBM33-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	ACTR3B, BLACE +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146785	GRCh38/hg38 7q36.3(chr7:157028893-159335865)x1	LINC01022, DNAJB6 +79 more	Copy number loss	See cases	GPathogenic
Select item 149686	GRCh38/hg38 7q36.3(chr7:157153628-159335866)x1	DNAJB6, DYNC2I1 +75 more	Copy number loss	See cases	GUncertain significance
Select item 58373	GRCh38/hg38 7q36.3(chr7:157271429-159282390)x3	DNAJB6, DYNC2I1 +73 more	Copy number gain	See cases	GUncertain significance
Select item 147687	GRCh38/hg38 7q36.3(chr7:157898696-159295947)x3	DYNC2I1, ESYT2 +46 more	Copy number gain	See cases	GPathogenic
Select item 57308	GRCh38/hg38 7q36.3(chr7:158154429-159135526)x1	LOC129999754, LOC129999755 +35 more	Copy number loss	See cases	GPathogenic
Select item 58375	GRCh38/hg38 7q36.3(chr7:158297823-159034606)x3	DYNC2I1, ESYT2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60327	GRCh38/hg38 7q36.3(chr7:158568512-159281301)x1	DYNC2I1, ESYT2 +32 more	Copy number loss	See cases	GPathogenic
Select item 545345	Single allele	DYNC2I1, ESYT2 +24 more	Duplication	Autism	GLikely pathogenic
Select item 144299	GRCh38/hg38 7q36.3(chr7:158671461-159127509)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GBenign
Select item 58376	GRCh38/hg38 7q36.3(chr7:158703702-159117047)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 545346	Single allele	DYNC2I1, ESYT2 +21 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155486	GRCh38/hg38 7q36.3(chr7:158795289-159327017)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GLikely benign
Select item 2500764	NC_000007.14:g.158815519_159037266dup	DYNC2I1, ESYT2 +15 more	Duplication	not specified	GUncertain significance
Select item 144371	GRCh38/hg38 7q36.3(chr7:158858318-159135526)x3	DYNC2I1, LINC00689 +7 more	Copy number gain	See cases	GBenign
Select item 154271	GRCh38/hg38 7q36.3(chr7:158861610-159327017)x1	DYNC2I1, LINC00689 +12 more	Copy number loss	See cases	GLikely benign
Select item 152059	GRCh38/hg38 7q36.3(chr7:158876520-159335866)x1	DYNC2I1, LINC00689 +12 more	Copy number loss	See cases	GUncertain significance
Select item 150836	GRCh38/hg38 7q36.3(chr7:158961114-159332774)x3	LINC00689, LOC108254663 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2360371	NM_003382.5(VIPR2):c.1277G>T (p.Arg426Leu)	VIPR2 (R346L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379354	NM_003382.5(VIPR2):c.1268G>A (p.Arg423His)	VIPR2 (R407H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374220	NM_003382.5(VIPR2):c.1256T>C (p.Leu419Pro)	VIPR2 (L419P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188591	NM_003382.5(VIPR2):c.1239C>G (p.Asn413Lys)	VIPR2 (N397K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778371	NM_003382.5(VIPR2):c.1229T>C (p.Phe410Ser)	VIPR2 (F330S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2305735	NM_003382.5(VIPR2):c.1226C>T (p.Ser409Phe)	VIPR2 (S393F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261100	NM_003382.5(VIPR2):c.1190C>A (p.Pro397Gln)	VIPR2 (P381Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2277241	NM_003382.5(VIPR2):c.1099C>A (p.Gln367Lys)	VIPR2 (Q367K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710333	NM_003382.5(VIPR2):c.1085G>A (p.Cys362Tyr)	VIPR2 (C362Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1176254	NM_003382.5(VIPR2):c.1081C>T (p.Leu361=)	VIPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 710208	NM_003382.5(VIPR2):c.1005G>A (p.Pro335=)	VIPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3188598	NM_003382.5(VIPR2):c.983A>G (p.Lys328Arg)	VIPR2 (K312R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188597	NM_003382.5(VIPR2):c.941A>T (p.Asp314Val)	VIPR2 (D234V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325417	NM_003382.5(VIPR2):c.842G>C (p.Trp281Ser)	VIPR2 (W201S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314038	NM_003382.5(VIPR2):c.829C>T (p.His277Tyr)	VIPR2 (H197Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265323	NM_003382.5(VIPR2):c.808G>A (p.Gly270Ser)	VIPR2 (G270S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550250	NM_003382.5(VIPR2):c.790C>G (p.Leu264Val)	VIPR2 (L264V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188596	NM_003382.5(VIPR2):c.626T>C (p.Leu209Pro)	VIPR2 (L129P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487434	NM_003382.5(VIPR2):c.624C>G (p.Phe208Leu)	VIPR2 (F128L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529672	NM_003382.5(VIPR2):c.577C>T (p.Pro193Ser)	VIPR2 (P193S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 782852	NM_003382.5(VIPR2):c.519C>T (p.Ala173=)	VIPR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 150983	GRCh38/hg38 7q36.3(chr7:159049139-159265346)x3	LOC110121203, LOC126860263 +5 more	Copy number gain	See cases	GLikely benign
Select item 149410	GRCh38/hg38 7q36.3(chr7:159049139-159127497)x3	LOC110121203, LOC126860263 +1 more	Copy number gain	See cases	GLikely benign
Select item 155101	GRCh38/hg38 7q36.3(chr7:159049212-159335866)x1	LOC110121203, LOC113743971 +6 more	Copy number loss	See cases	GLikely benign
Select item 3188594	NM_003382.5(VIPR2):c.448C>T (p.Leu150Phe)	LOC126860263, VIPR2 (L134F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330369	NM_003382.5(VIPR2):c.427A>G (p.Thr143Ala)	LOC126860263, VIPR2 (T127A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 545347	Single allele	LOC110121203, LOC113743971 +5 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2658286	NM_003382.5(VIPR2):c.357+6853C>T	LOC110121203, VIPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2527432	NM_003382.5(VIPR2):c.329G>A (p.Gly110Asp)	VIPR2 (G110D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477482	NM_003382.5(VIPR2):c.319G>A (p.Asp107Asn)	VIPR2 (D107N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342603	NM_003382.5(VIPR2):c.316G>A (p.Val106Ile)	VIPR2 (V106I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 778372	NM_003382.5(VIPR2):c.282G>A (p.Thr94=)	VIPR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3188593	NM_003382.5(VIPR2):c.281C>T (p.Thr94Met)	VIPR2 (T94M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188592	NM_003382.5(VIPR2):c.215C>T (p.Thr72Met)	VIPR2 (T72M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247975	NM_003382.5(VIPR2):c.160G>A (p.Gly54Ser)	VIPR2 (G54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150100	GRCh38/hg38 7q36.3(chr7:159135478-159233950)x3	LOC126860264, LOC126860265 +3 more	Copy number gain	See cases	GLikely benign
Select item 3188595	NM_003382.5(VIPR2):c.61A>G (p.Ile21Val)	VIPR2 (I21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801781	NM_003382.5(VIPR2):c.51+37G>A	VIPR2	Single nucleotide variant (intron variant)	Myoepithelial tumor	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2685044	GRCh37/hg19 7q36.3(chr7:158546177-158953160)x4	DYNC2I1, ESYT2 +1 more	Copy number gain	not provided	GUncertain significance

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