3590[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	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
Select item 2335035	NM_004460.5(FAP):c.2255T>C (p.Leu752Pro)	FAP, LOC101929532 (L727P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2479811	NM_004460.5(FAP):c.2234A>T (p.Tyr745Phe)	FAP, LOC101929532 (Y720F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 717148	NM_004460.5(FAP):c.2211C>T (p.Ser737=)	FAP, LOC101929532	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2524239	NM_004460.5(FAP):c.2203G>A (p.Gly735Ser)	FAP, LOC101929532 (G735S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 779407	NM_004460.5(FAP):c.2124A>G (p.Gln708=)	FAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2366934	NM_004460.5(FAP):c.2095G>A (p.Gly699Arg)	FAP (G699R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550570	NM_004460.5(FAP):c.2005A>G (p.Thr669Ala)	FAP (T644A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320201	NM_004460.5(FAP):c.1992C>A (p.Phe664Leu)	FAP (F664L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711802	NM_004460.5(FAP):c.1870-8C>A	FAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2326602	NM_004460.5(FAP):c.1837A>G (p.Ile613Val)	FAP (I613V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092852	NM_004460.5(FAP):c.1832G>A (p.Gly611Asp)	FAP (G611D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263232	NM_004460.5(FAP):c.1745A>G (p.Asp582Gly)	FAP (D557G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277692	NM_004460.5(FAP):c.1700T>C (p.Met567Thr)	FAP (M542T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485655	NM_004460.5(FAP):c.1681C>G (p.Leu561Val)	FAP (L536V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263572	NM_004460.5(FAP):c.1651T>C (p.Ser551Pro)	FAP (S526P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737646	NM_004460.5(FAP):c.1550-9T>C	FAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2588769	NM_004460.5(FAP):c.1483G>A (p.Glu495Lys)	FAP (E470K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277689	NM_004460.5(FAP):c.1460T>A (p.Ile487Asn)	FAP (I462N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714963	NM_004460.5(FAP):c.1374C>T (p.Tyr458=)	FAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2480478	NM_004460.5(FAP):c.1369G>A (p.Asp457Asn)	FAP (D432N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598941	NM_004460.5(FAP):c.1357G>A (p.Ala453Thr)	FAP (A428T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092850	NM_004460.5(FAP):c.1289G>T (p.Gly430Val)	FAP (G405V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323350	NM_004460.5(FAP):c.1276A>G (p.Arg426Gly)	FAP (R426G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092849	NM_004460.5(FAP):c.1255C>T (p.Pro419Ser)	FAP (P419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486400	NM_004460.5(FAP):c.1252T>A (p.Tyr418Asn)	FAP (Y393N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092848	NM_004460.5(FAP):c.1192A>G (p.Ile398Val)	FAP (I398V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258282	NM_004460.5(FAP):c.1111A>G (p.Lys371Glu)	FAP (K371E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341038	NM_004460.5(FAP):c.899C>T (p.Thr300Ile)	FAP (T300I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092856	NM_004460.5(FAP):c.853A>G (p.Met285Val)	FAP (M260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485297	NM_004460.5(FAP):c.787C>T (p.Arg263Trp)	FAP (R238W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277691	NM_004460.5(FAP):c.742A>G (p.Ile248Val)	FAP (I248V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524198	NM_004460.5(FAP):c.704C>T (p.Ala235Val)	FAP (A235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601577	NM_004460.5(FAP):c.692T>C (p.Ile231Thr)	FAP (I206T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092855	NM_004460.5(FAP):c.691A>G (p.Ile231Val)	FAP (I206V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767828	NM_004460.5(FAP):c.686C>T (p.Thr229Met)	FAP (T204M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714964	NM_004460.5(FAP):c.634C>T (p.Leu212Phe)	FAP (L212F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3277690	NM_004460.5(FAP):c.632C>T (p.Ala211Val)	FAP (A211V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273190	NM_004460.5(FAP):c.626A>G (p.Lys209Arg)	FAP (K184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092854	NM_004460.5(FAP):c.615G>T (p.Met205Ile)	FAP (M180I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791876	NM_004460.5(FAP):c.585A>C (p.Gly195=)	FAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782404	NM_004460.5(FAP):c.553T>C (p.Phe185Leu)	FAP (F160L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2338465	NM_004460.5(FAP):c.509T>G (p.Ile170Ser)	FAP (I170S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364426	NM_004460.5(FAP):c.479G>A (p.Ser160Asn)	FAP (S135N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394337	NM_004460.5(FAP):c.440C>T (p.Pro147Leu)	FAP (P122L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519014	NM_004460.5(FAP):c.410A>C (p.Asn137Thr)	FAP (N137T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774834	NM_004460.5(FAP):c.300T>C (p.Ala100=)	FAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2235126	NM_004460.5(FAP):c.269T>G (p.Leu90Trp)	FAP (L90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471737	NM_004460.5(FAP):c.194A>G (p.Gln65Arg)	FAP (Q65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254922	NM_004460.5(FAP):c.151A>C (p.Thr51Pro)	FAP (T51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220051	NM_004460.5(FAP):c.110A>G (p.Asn37Ser)	FAP (N37S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092857	NM_004460.5(FAP):c.99C>A (p.Asn33Lys)	FAP (N33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734112	NM_004460.5(FAP):c.92-6C>A	FAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2293155	NM_004460.5(FAP):c.80G>C (p.Arg27Pro)	FAP (R27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404082	NM_004460.5(FAP):c.79C>G (p.Arg27Gly)	FAP (R27G)	Single nucleotide variant (missense variant)	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 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 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 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 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

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Items: 78