4038[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
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 2314501	NM_003505.2(FZD1):c.54C>G (p.Ser18Arg)	FZD1, LOC129998785 (S18R)	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 3280278	NM_003505.2(FZD1):c.115G>T (p.Gly39Cys)	FZD1, LOC129998785 (G39C)	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 2598304	NM_003505.2(FZD1):c.163C>G (p.Leu55Val)	FZD1 (L55V)	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 3097646	NM_003505.2(FZD1):c.212G>C (p.Arg71Pro)	FZD1 (R71P)	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 3097647	NM_003505.2(FZD1):c.239G>A (p.Gly80Asp)	FZD1, LOC129998786 (G80D)	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 2613872	NM_003505.2(FZD1):c.344A>G (p.Tyr115Cys)	FZD1 (Y115C)	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 791291	NM_003505.2(FZD1):c.540A>G (p.Leu180=)	FZD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2543216	NM_003505.2(FZD1):c.730C>T (p.Pro244Ser)	FZD1 (P244S)	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 2613741	NM_003505.2(FZD1):c.800G>T (p.Gly267Val)	FZD1 (G267V)	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 3097652	NM_003505.2(FZD1):c.920G>A (p.Gly307Glu)	FZD1 (G307E)	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 2602190	NM_003505.2(FZD1):c.1238G>C (p.Ser413Thr)	FZD1 (S413T)	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 3097642	NM_003505.2(FZD1):c.1357G>T (p.Ala453Ser)	FZD1 (A453S)	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 2474713	NM_003505.2(FZD1):c.1471G>A (p.Val491Met)	FZD1 (V491M)	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 2612310	NM_003505.2(FZD1):c.1558A>G (p.Met520Val)	FZD1 (M520V)	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 3280276	NM_003505.2(FZD1):c.1704C>G (p.Ser568Arg)	FZD1 (S568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780696	NM_003505.2(FZD1):c.1749C>T (p.His583=)	FZD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2350181	NM_003505.2(FZD1):c.1757C>A (p.Ala586Glu)	FZD1 (A586E)	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 3280277	NM_003505.2(FZD1):c.1909C>T (p.Leu637Phe)	FZD1 (L637F)	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 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

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Items: 49