FZD7[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
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	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +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	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	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 144725	GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3	ALS2, CDK15 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3097694	NM_003507.2(FZD7):c.130C>T (p.Pro44Ser)	FZD7 (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338379	NM_003507.2(FZD7):c.133G>A (p.Asp45Asn)	FZD7 (D45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246283	NM_003507.2(FZD7):c.164C>A (p.Pro55Gln)	FZD7 (P55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281547	NM_003507.2(FZD7):c.325G>A (p.Val109Met)	FZD7 (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097699	NM_003507.2(FZD7):c.530C>A (p.Thr177Asn)	FZD7 (T177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281121	NM_003507.2(FZD7):c.572C>G (p.Thr191Ser)	FZD7 (T191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770695	NM_003507.2(FZD7):c.587G>A (p.Gly196Glu)	FZD7 (G196E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2463705	NM_003507.2(FZD7):c.608G>A (p.Arg203His)	FZD7 (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232948	NM_003507.2(FZD7):c.613G>C (p.Ala205Pro)	FZD7 (A205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097700	NM_003507.2(FZD7):c.736A>G (p.Lys246Glu)	FZD7 (K246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621360	NM_003507.2(FZD7):c.757G>A (p.Ala253Thr)	FZD7 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795887	NM_003507.2(FZD7):c.789G>A (p.Leu263=)	FZD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211729	NM_003507.2(FZD7):c.814G>A (p.Val272Ile)	FZD7 (V272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270212	NM_003507.2(FZD7):c.947T>C (p.Val316Ala)	FZD7 (V316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611500	NM_003507.2(FZD7):c.1097G>A (p.Gly366Asp)	FZD7 (G366D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237689	NM_003507.2(FZD7):c.1127C>T (p.Ala376Val)	FZD7 (A376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617168	NM_003507.2(FZD7):c.1162G>T (p.Val388Leu)	FZD7 (V388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722432	NM_003507.2(FZD7):c.1227G>A (p.Gly409=)	FZD7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2559239	NM_003507.2(FZD7):c.1258G>T (p.Ala420Ser)	FZD7 (A420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097695	NM_003507.2(FZD7):c.1351C>T (p.Arg451Cys)	FZD7 (R451C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097696	NM_003507.2(FZD7):c.1591A>G (p.Met531Val)	FZD7 (M531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097697	NM_003507.2(FZD7):c.1598A>C (p.Lys533Thr)	FZD7 (K533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289675	NM_003507.2(FZD7):c.1613T>C (p.Met538Thr)	FZD7 (M538T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267019	NM_003507.2(FZD7):c.1621G>C (p.Gly541Arg)	FZD7 (G541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222689	NM_003507.2(FZD7):c.1715C>T (p.Thr572Ile)	FZD7 (T572I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 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 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
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 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	C2CD6, CASP8 +25 more	Deletion	Immunodeficiency, common variable, 1 +2 more	GPathogenic
Select item 1455397	NC_000002.11:g.(?_202566574)_(203424669_?)del	ALS2, BMPR2 +4 more	Deletion	Primary pulmonary hypertension	GPathogenic
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 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	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 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance

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Items: 57