4039[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 2257895	NM_007197.4(FZD10):c.45G>T (p.Met15Ile)	FZD10 (M15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339758	NM_007197.4(FZD10):c.50C>T (p.Ser17Leu)	FZD10 (S17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097659	NM_007197.4(FZD10):c.78G>A (p.Met26Ile)	FZD10 (M26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280282	NM_007197.4(FZD10):c.127A>G (p.Lys43Glu)	FZD10 (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338035	NM_007197.4(FZD10):c.187G>A (p.Glu63Lys)	FZD10 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548102	NM_007197.4(FZD10):c.272A>T (p.Tyr91Phe)	FZD10 (Y91F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097655	NM_007197.4(FZD10):c.347A>G (p.Lys116Arg)	FZD10 (K116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097656	NM_007197.4(FZD10):c.363G>C (p.Met121Ile)	FZD10 (M121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280279	NM_007197.4(FZD10):c.369G>C (p.Gln123His)	FZD10 (Q123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097657	NM_007197.4(FZD10):c.417C>A (p.Asn139Lys)	FZD10 (N139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355957	NM_007197.4(FZD10):c.500C>T (p.Pro167Leu)	FZD10 (P167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329107	NM_007197.4(FZD10):c.534G>C (p.Gln178His)	FZD10 (Q178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242787	NM_007197.4(FZD10):c.538C>T (p.His180Tyr)	FZD10 (H180Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097658	NM_007197.4(FZD10):c.544C>A (p.Leu182Met)	FZD10 (L182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280281	NM_007197.4(FZD10):c.562G>T (p.Gly188Trp)	FZD10 (G188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280280	NM_007197.4(FZD10):c.601G>A (p.Val201Met)	FZD10 (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211573	NM_007197.4(FZD10):c.623C>T (p.Ala208Val)	FZD10 (A208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604910	NM_007197.4(FZD10):c.664G>A (p.Glu222Lys)	FZD10 (E222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284468	NM_007197.4(FZD10):c.740T>A (p.Leu247His)	FZD10 (L247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400181	NM_007197.4(FZD10):c.893A>C (p.Tyr298Ser)	FZD10 (Y298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405489	NM_007197.4(FZD10):c.1003T>A (p.Phe335Ile)	FZD10 (F335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245417	NM_007197.4(FZD10):c.1049A>G (p.Asn350Ser)	FZD10 (N350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354894	NM_007197.4(FZD10):c.1093A>G (p.Lys365Glu)	FZD10 (K365E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620422	NM_007197.4(FZD10):c.1270C>T (p.Arg424Trp)	FZD10 (R424W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277360	NM_007197.4(FZD10):c.1298A>C (p.Asn433Thr)	FZD10 (N433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224067	NM_007197.4(FZD10):c.1432C>G (p.Gln478Glu)	FZD10 (Q478E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548530	NM_007197.4(FZD10):c.1471G>A (p.Asp491Asn)	FZD10 (D491N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209891	NM_007197.4(FZD10):c.1591T>C (p.Trp531Arg)	FZD10 (W531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097653	NM_007197.4(FZD10):c.1609C>T (p.Arg537Cys)	FZD10 (R537C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097654	NM_007197.4(FZD10):c.1610G>T (p.Arg537Leu)	FZD10 (R537L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980997	GRCh37/hg19 12q24.33(chr12:130192184-131023667)x3	FZD10, PIWIL1 +2 more	Copy number gain	not provided	GLikely benign
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 441989	GRCh37/hg19 12q24.33(chr12:130571310-131324619)x3	FZD10, PIWIL1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 49