ClinVar for Gene (Select 1803) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273634	NM_001935.4(DPP4):c.1400A>G (p.Tyr467Cys)	DPP4 (Y465C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273633	NM_001935.4(DPP4):c.1322A>C (p.Lys441Thr)	DPP4 (K439T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273632	NM_001935.4(DPP4):c.1722A>G (p.Ile574Met)	DPP4 (I556M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273631	NM_001935.4(DPP4):c.506A>G (p.Asn169Ser)	DPP4 (N168S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273630	NM_001935.4(DPP4):c.444T>G (p.Ile148Met)	DPP4 (I146M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273629	NM_001935.4(DPP4):c.700C>G (p.Pro234Ala)	DPP4 (P234A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273628	NM_001935.4(DPP4):c.464T>C (p.Val155Ala)	DPP4 (V154A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273627	NM_001935.4(DPP4):c.239A>G (p.Asn80Ser)	DPP4 (N80S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085551	NM_001935.4(DPP4):c.931A>G (p.Ile311Val)	DPP4 (I309V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085550	NM_001935.4(DPP4):c.793A>G (p.Thr265Ala)	DPP4 (T265A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085549	NM_001935.4(DPP4):c.582A>G (p.Ile194Met)	DPP4 (I193M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085548	NM_001935.4(DPP4):c.2254T>C (p.Tyr752His)	DPP4 (Y752H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085547	NM_001935.4(DPP4):c.1932T>G (p.Ser644Arg)	DPP4 (S626R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085546	NM_001935.4(DPP4):c.1883G>T (p.Gly628Val)	DPP4 (G626V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085545	NM_001935.4(DPP4):c.1834C>A (p.Gln612Lys)	DPP4 (Q594K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085544	NM_001935.4(DPP4):c.1798A>G (p.Thr600Ala)	DPP4 (T582A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085543	NM_001935.4(DPP4):c.1539A>T (p.Lys513Asn)	DPP4 (K513N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085542	NM_001935.4(DPP4):c.1000A>G (p.Ser334Gly)	DPP4 (S332G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2614674	NM_001935.4(DPP4):c.257G>T (p.Ser86Ile)	DPP4 (S84I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558665	NM_001935.4(DPP4):c.1960G>A (p.Ala654Thr)	DPP4 (A652T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556597	NM_001935.4(DPP4):c.740A>C (p.Gln247Pro)	DPP4 (Q247P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550099	NM_001935.4(DPP4):c.2110C>T (p.His704Tyr)	DPP4 (H686Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545169	NM_001935.4(DPP4):c.1014C>A (p.Asn338Lys)	DPP4 (N337K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542349	NM_001935.4(DPP4):c.194A>G (p.Asp65Gly)	DPP4 (D64G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527267	NM_001935.4(DPP4):c.118C>T (p.Arg40Cys)	DPP4 (R40C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524451	NM_001935.4(DPP4):c.1876A>G (p.Ile626Val)	DPP4 (I626V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473373	NM_001935.4(DPP4):c.320T>C (p.Ile107Thr)	DPP4 (I107T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465055	NM_001935.4(DPP4):c.284T>C (p.Phe95Ser)	DPP4 (F95S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400211	NM_001935.4(DPP4):c.2038C>T (p.Leu680Phe)	DPP4 (L678F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390873	NM_001935.4(DPP4):c.200A>T (p.Glu67Val)	DPP4 (E66V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387131	NM_001935.4(DPP4):c.991G>C (p.Asp331His)	DPP4 (D329H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373039	NM_001935.4(DPP4):c.659G>A (p.Gly220Asp)	DPP4 (G218D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366064	NM_001935.4(DPP4):c.1718T>C (p.Ile573Thr)	DPP4 (I571T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350538	NM_001935.4(DPP4):c.307A>T (p.Asn103Tyr)	DPP4 (N101Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344770	NM_001935.4(DPP4):c.187A>G (p.Ile63Val)	DPP4 (I63V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2338972	NM_001935.4(DPP4):c.1442C>T (p.Thr481Ile)	DPP4 (T463I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335521	NM_001935.4(DPP4):c.1925C>T (p.Ser642Leu)	DPP4 (S624L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333836	NM_001935.4(DPP4):c.841A>C (p.Asn281His)	DPP4 (N279H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329623	NM_001935.4(DPP4):c.854T>C (p.Ile285Thr)	DPP4 (I285T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326729	NM_001935.4(DPP4):c.1034A>G (p.His345Arg)	DPP4 (H343R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324730	NM_001935.4(DPP4):c.1271G>A (p.Gly424Glu)	DPP4 (G423E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311100	NM_001935.4(DPP4):c.1217G>T (p.Gly406Val)	DPP4 (G405V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293525	NM_001935.4(DPP4):c.250G>A (p.Gly84Arg)	DPP4 (G83R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275126	NM_001935.4(DPP4):c.1328C>T (p.Thr443Ile)	DPP4 (T441I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269987	NM_001935.4(DPP4):c.281C>T (p.Thr94Ile)	DPP4 (T93I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261079	NM_001935.4(DPP4):c.2139T>G (p.Phe713Leu)	DPP4 (F711L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253442	NM_001935.4(DPP4):c.1582A>G (p.Met528Val)	DPP4 (M510V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250799	NM_001935.4(DPP4):c.457C>G (p.Gln153Glu)	DPP4 (Q151E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240573	NM_001935.4(DPP4):c.896A>G (p.Tyr299Cys)	DPP4 (Y297C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214293	NM_001935.4(DPP4):c.1139G>C (p.Gly380Ala)	DPP4 (G378A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526925	GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790)	COBLL1, CSRNP3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526924	GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735)	BAZ2B, CCDC148 +22 more	Copy number loss	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 980601	GRCh37/hg19 2q24.2(chr2:162620633-163421321)x1	DPP4, GCA +5 more	Copy number loss	not provided	GUncertain significance
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Autistic behavior +1 more	GLikely pathogenic
Select item 932936	GRCh37/hg19 2q24.2(chr2:161561653-163178787)	DPP4, FAP +6 more	Copy number loss	Autistic behavior +1 more	GLikely pathogenic
Select item 827595	NM_001935.4(DPP4):c.571G>T (p.Glu191Ter)	DPP4 (E191*)	Single nucleotide variant (nonsense)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 791875	NM_001935.4(DPP4):c.81G>A (p.Leu27=)	DPP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787775	NM_001935.4(DPP4):c.1310G>C (p.Ser437Thr)	DPP4 (S437T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786764	NM_001935.4(DPP4):c.2148A>C (p.Ser716=)	DPP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780024	NM_001935.4(DPP4):c.48G>A (p.Ala16=)	DPP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770342	NM_001935.4(DPP4):c.796G>A (p.Val266Ile)	DPP4 (V266I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 754922	NM_001935.4(DPP4):c.1637+10C>T	DPP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748436	NM_001935.4(DPP4):c.1128C>T (p.Ser376=)	DPP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742393	NM_001935.4(DPP4):c.1298+7G>A	DPP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 732560	NM_001935.4(DPP4):c.1617A>G (p.Lys539=)	DPP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715707	NM_001935.4(DPP4):c.1987+4T>C	DPP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710726	NM_001935.4(DPP4):c.1887+3G>A	DPP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708761	NM_001935.4(DPP4):c.1935C>T (p.Gly645=)	DPP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 626293	Single allele	COBLL1, CSRNP3 +18 more	Deletion	not provided	GPathogenic
Select item 523687	Single allele	DPP4, FAP +6 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523686	Single allele	LY75-CD302, MARCHF7 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442128	GRCh37/hg19 2q24.2(chr2:162307327-163030442)x3	DPP4, FAP +2 more	Copy number gain	See cases	GUncertain significance
Select item 253674	GRCh37/hg19 2q24.2-24.3(chr2:161542325-164640864)x1	FAP, GCG +9 more	Copy number loss	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 86