4043[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 146042	GRCh38/hg38 2q33.3(chr2:207661540-207876453)x3	CCNYL1, FZD5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2296858	NM_003468.4(FZD5):c.1738G>A (p.Val580Met)	FZD5 (V580M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767844	NM_003468.4(FZD5):c.1716C>T (p.Pro572=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623383	NM_003468.4(FZD5):c.1706C>T (p.Pro569Leu)	FZD5 (P569L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2721057	NM_003468.4(FZD5):c.1681G>T (p.Ala561Ser)	FZD5 (A561S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780859	NM_003468.4(FZD5):c.1680C>T (p.Ser560=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097678	NM_003468.4(FZD5):c.1651A>G (p.Met551Val)	FZD5 (M551V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2742682	NM_003468.4(FZD5):c.1633C>T (p.His545Tyr)	FZD5, LOC129935506 (H545Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3372002	NM_003468.4(FZD5):c.1595G>C (p.Arg532Pro)	FZD5, LOC129935506 (R532P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761255	NM_003468.4(FZD5):c.1587G>T (p.Ser529=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489321	NM_003468.4(FZD5):c.1563C>G (p.Ile521Met)	FZD5 (I521M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097677	NM_003468.4(FZD5):c.1552G>A (p.Gly518Ser)	FZD5 (G518S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2744309	NM_003468.4(FZD5):c.1541G>A (p.Gly514Asp)	FZD5 (G514D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775808	NM_003468.4(FZD5):c.1531C>T (p.Leu511=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2417206	NM_003468.4(FZD5):c.1518G>A (p.Lys506=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023314	NM_003468.4(FZD5):c.1513C>G (p.Leu505Val)	FZD5 (L505V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2049394	NM_003468.4(FZD5):c.1490A>C (p.Lys497Thr)	FZD5 (K497T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3280298	NM_003468.4(FZD5):c.1475G>C (p.Gly492Ala)	FZD5 (G492A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1631075	NM_003468.4(FZD5):c.1473C>T (p.Thr491=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3280297	NM_003468.4(FZD5):c.1444C>T (p.Leu482Phe)	FZD5 (L482F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024146	NM_003468.4(FZD5):c.1428del (p.Ser477fs)	FZD5 (S477fs)	Deletion (frameshift variant)	Microphthalmia/coloboma 11	GPathogenic
Select item 2696001	NM_003468.4(FZD5):c.1410C>A (p.Tyr470Ter)	FZD5 (Y470*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3024147	NM_003468.4(FZD5):c.1403_1406dup (p.Tyr470fs)	FZD5 (Y470fs)	Duplication (frameshift variant)	Microphthalmia/coloboma 11	GPathogenic
Select item 1481087	NM_003468.4(FZD5):c.1390G>A (p.Val464Met)	FZD5 (V464M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3280296	NM_003468.4(FZD5):c.1388T>C (p.Ile463Thr)	FZD5 (I463T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331184	NM_003468.4(FZD5):c.1371C>T (p.Tyr457=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740988	NM_003468.4(FZD5):c.1368C>T (p.Leu456=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2502017	NM_003468.4(FZD5):c.1319_1325del (p.Thr440fs)	FZD5 (T440fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1303427	NM_003468.4(FZD5):c.1274C>A (p.Ser425Ter)	FZD5 (S425*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2697143	NM_003468.4(FZD5):c.1254C>T (p.Phe418=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694331	NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)	FZD5	Deletion (inframe_deletion)	Congenital ocular coloboma	GLikely pathogenic
Select item 774838	NM_003468.4(FZD5):c.1237C>T (p.Leu413=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3024145	NM_003468.4(FZD5):c.1232A>G (p.Tyr411Cys)	FZD5 (Y411C)	Single nucleotide variant (missense variant)	Microphthalmia/coloboma 11	GPathogenic
Select item 3015606	NM_003468.4(FZD5):c.1227G>T (p.Val409=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409652	NM_003468.4(FZD5):c.1182C>A (p.Asn394Lys)	FZD5 (N394K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339604	NM_003468.4(FZD5):c.1120A>C (p.Thr374Pro)	FZD5 (T374P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 694330	NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)	FZD5	Insertion (inframe_indel)	Congenital ocular coloboma	GLikely pathogenic
Select item 2291763	NM_003468.4(FZD5):c.1067A>G (p.Tyr356Cys)	FZD5 (Y356C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488733	NM_003468.4(FZD5):c.1064G>A (p.Gly355Asp)	FZD5 (G355D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628334	NM_003468.4(FZD5):c.904dup (p.His302fs)	FZD5 (H302fs)	Duplication (frameshift variant)	FZD5-related disorder	GUncertain significance
Select item 3097684	NM_003468.4(FZD5):c.899G>C (p.Arg300Pro)	FZD5 (R300P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097683	NM_003468.4(FZD5):c.865C>G (p.Leu289Val)	FZD5 (L289V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236107	NM_003468.4(FZD5):c.836T>G (p.Leu279Arg)	FZD5 (L279R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024143	NM_003468.4(FZD5):c.830del (p.Cys277fs)	FZD5 (C277fs)	Deletion (frameshift variant)	Microphthalmia/coloboma 11	GPathogenic
Select item 694329	NM_003468.4(FZD5):c.820del (p.Leu274fs)	FZD5 (L274fs)	Deletion (frameshift variant)	Congenital ocular coloboma	GPathogenic
Select item 2722594	NM_003468.4(FZD5):c.809C>G (p.Pro270Arg)	FZD5 (P270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024628	NM_003468.4(FZD5):c.800C>T (p.Pro267Leu)	FZD5 (P267L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022894	NM_003468.4(FZD5):c.713G>A (p.Trp238Ter)	FZD5 (W238*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2528897	NM_003468.4(FZD5):c.707C>G (p.Thr236Ser)	FZD5 (T236S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971884	NM_003468.4(FZD5):c.678C>T (p.Ser226=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867268	NM_003468.4(FZD5):c.670C>T (p.Gln224Ter)	FZD5 (Q224*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2555059	NM_003468.4(FZD5):c.658G>A (p.Val220Ile)	FZD5 (V220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024142	NM_003468.4(FZD5):c.656delinsAG (p.Ala219fs)	FZD5 (A219fs)	Indel (frameshift variant)	Microphthalmia/coloboma 11	GPathogenic
Select item 1599704	NM_003468.4(FZD5):c.647C>T (p.Pro216Leu)	FZD5 (P216L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1941536	NM_003468.4(FZD5):c.645G>C (p.Val215=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881066	NM_003468.4(FZD5):c.632G>A (p.Arg211Gln)	FZD5 (R211Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2207738	NM_003468.4(FZD5):c.607T>A (p.Ser203Thr)	FZD5 (S203T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3097680	NM_003468.4(FZD5):c.526C>T (p.Pro176Ser)	FZD5 (P176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205277	NM_003468.4(FZD5):c.514C>A (p.Pro172Thr)	FZD5 (P172T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971885	NM_003468.4(FZD5):c.484C>G (p.Pro162Ala)	FZD5 (P162A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088361	NM_003468.4(FZD5):c.480dup (p.Arg161fs)	FZD5 (R161fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2216667	NM_003468.4(FZD5):c.479C>A (p.Pro160His)	FZD5 (P160H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2039507	NM_003468.4(FZD5):c.455G>A (p.Arg152His)	FZD5 (R152H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2372890	NM_003468.4(FZD5):c.454C>G (p.Arg152Gly)	FZD5 (R152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315185	NM_003468.4(FZD5):c.446dup (p.Asp149fs)	FZD5 (D149fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2464128	NM_003468.4(FZD5):c.401A>G (p.Asp134Gly)	FZD5 (D134G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723699	NM_003468.4(FZD5):c.396C>A (p.Ser132Arg)	FZD5 (S132R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527711	NM_003468.4(FZD5):c.392T>G (p.Met131Arg)	FZD5 (M131R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309720	NM_003468.4(FZD5):c.353C>T (p.Pro118Leu)	FZD5 (P118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097679	NM_003468.4(FZD5):c.337A>G (p.Lys113Glu)	FZD5 (K113E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280295	NM_003468.4(FZD5):c.316C>A (p.Arg106Ser)	FZD5 (R106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 189354	NM_003468.4(FZD5):c.267G>A (p.Met89Ile)	FZD5 (M89I)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 3373425	NM_003468.4(FZD5):c.159C>A (p.Asn53Lys)	FZD5 (N53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766029	NM_003468.4(FZD5):c.158del (p.Asn53fs)	FZD5 (N53fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3356322	NM_003468.4(FZD5):c.127G>A (p.Gly43Ser)	FZD5 (G43S)	Single nucleotide variant (missense variant)	FZD5-related disorder	GUncertain significance
Select item 2314768	NM_003468.4(FZD5):c.127G>C (p.Gly43Arg)	FZD5 (G43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767845	NM_003468.4(FZD5):c.90C>T (p.Ala30=)	FZD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097682	NM_003468.4(FZD5):c.80C>G (p.Ala27Gly)	FZD5, LOC129935507 (A27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1541758	NM_003468.4(FZD5):c.51A>G (p.Leu17=)	FZD5, LOC129935507	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic

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