ClinVar for Gene (Select 8321) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280278	NM_003505.2(FZD1):c.115G>T (p.Gly39Cys)	FZD1, LOC129998785 (G39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280277	NM_003505.2(FZD1):c.1909C>T (p.Leu637Phe)	FZD1 (L637F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280276	NM_003505.2(FZD1):c.1704C>G (p.Ser568Arg)	FZD1 (S568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280275	NM_003505.2(FZD1):c.86G>A (p.Arg29Gln)	FZD1, LOC129998785 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097652	NM_003505.2(FZD1):c.920G>A (p.Gly307Glu)	FZD1 (G307E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097651	NM_003505.2(FZD1):c.853T>G (p.Tyr285Asp)	FZD1 (Y285D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097650	NM_003505.2(FZD1):c.743C>G (p.Thr248Ser)	FZD1 (T248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097648	NM_003505.2(FZD1):c.247C>T (p.Pro83Ser)	FZD1, LOC129998786 (P83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097647	NM_003505.2(FZD1):c.239G>A (p.Gly80Asp)	FZD1, LOC129998786 (G80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097646	NM_003505.2(FZD1):c.212G>C (p.Arg71Pro)	FZD1 (R71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097644	NM_003505.2(FZD1):c.1667T>C (p.Phe556Ser)	FZD1 (F556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097643	NM_003505.2(FZD1):c.142C>A (p.Pro48Thr)	FZD1, LOC129998785 (P48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097642	NM_003505.2(FZD1):c.1357G>T (p.Ala453Ser)	FZD1 (A453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097641	NM_003505.2(FZD1):c.1185G>C (p.Gln395His)	FZD1 (Q395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620455	NM_003505.2(FZD1):c.1837G>T (p.Val613Leu)	FZD1 (V613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613872	NM_003505.2(FZD1):c.344A>G (p.Tyr115Cys)	FZD1 (Y115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613741	NM_003505.2(FZD1):c.800G>T (p.Gly267Val)	FZD1 (G267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612310	NM_003505.2(FZD1):c.1558A>G (p.Met520Val)	FZD1 (M520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602190	NM_003505.2(FZD1):c.1238G>C (p.Ser413Thr)	FZD1 (S413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598304	NM_003505.2(FZD1):c.163C>G (p.Leu55Val)	FZD1 (L55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543216	NM_003505.2(FZD1):c.730C>T (p.Pro244Ser)	FZD1 (P244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535492	NM_003505.2(FZD1):c.1537C>T (p.Leu513Phe)	FZD1 (L513F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529009	NM_003505.2(FZD1):c.526G>A (p.Val176Met)	FZD1 (V176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474713	NM_003505.2(FZD1):c.1471G>A (p.Val491Met)	FZD1 (V491M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472350	NM_003505.2(FZD1):c.175C>T (p.Leu59Phe)	FZD1 (L59F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459476	NM_003505.2(FZD1):c.238G>C (p.Gly80Arg)	FZD1, LOC129998786 (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355326	NM_003505.2(FZD1):c.1357G>A (p.Ala453Thr)	FZD1 (A453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350181	NM_003505.2(FZD1):c.1757C>A (p.Ala586Glu)	FZD1 (A586E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335239	NM_003505.2(FZD1):c.1267C>G (p.Leu423Val)	FZD1 (L423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314501	NM_003505.2(FZD1):c.54C>G (p.Ser18Arg)	FZD1, LOC129998785 (S18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275547	NM_003505.2(FZD1):c.1750C>T (p.Leu584Phe)	FZD1 (L584F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272807	NM_003505.2(FZD1):c.574G>C (p.Glu192Gln)	FZD1 (E192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 791291	NM_003505.2(FZD1):c.540A>G (p.Leu180=)	FZD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780696	NM_003505.2(FZD1):c.1749C>T (p.His583=)	FZD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 523285	GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)	CDK14, FZD1	Copy number loss	Delayed speech and language development +4 more	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221462	GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3	STEAP4, TEX47 +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 49