ADGRD1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +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 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	LOC130009168, LOC130009169 +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 147915	GRCh38/hg38 12q24.33(chr12:130965828-131650601)x3	ADGRD1, ADGRD1-AS1 +22 more	Copy number gain	See cases	GBenign
Select item 2470763	NM_198827.5(ADGRD1):c.119C>T (p.Ala40Val)	ADGRD1 (A40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616337	NM_198827.5(ADGRD1):c.259G>A (p.Gly87Ser)	ADGRD1 (G119S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328404	NM_198827.5(ADGRD1):c.298T>C (p.Cys100Arg)	ADGRD1 (C132R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359729	NM_198827.5(ADGRD1):c.371C>T (p.Ala124Val)	ADGRD1 (A156V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529891	NM_198827.5(ADGRD1):c.421G>A (p.Gly141Ser)	ADGRD1 (G173S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553479	NM_198827.5(ADGRD1):c.468G>T (p.Trp156Cys)	ADGRD1 (W156C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365752	NM_198827.5(ADGRD1):c.493C>G (p.Pro165Ala)	ADGRD1 (P197A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2643598	NM_198827.5(ADGRD1):c.594T>G (p.Ser198=)	ADGRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392766	NM_198827.5(ADGRD1):c.609G>T (p.Glu203Asp)	ADGRD1 (E203D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484990	NM_198827.5(ADGRD1):c.641A>G (p.Gln214Arg)	ADGRD1 (Q246R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556273	NM_198827.5(ADGRD1):c.838A>G (p.Ile280Val)	ADGRD1, ADGRD1-AS1 (I280V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546985	NM_198827.5(ADGRD1):c.938C>T (p.Ser313Leu)	ADGRD1, ADGRD1-AS1 (S313L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245769	NM_198827.5(ADGRD1):c.1109C>T (p.Pro370Leu)	ADGRD1 (P370L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210916	NM_198827.5(ADGRD1):c.1120G>A (p.Val374Met)	ADGRD1 (V374M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2313632	NM_198827.5(ADGRD1):c.1162A>C (p.Ile388Leu)	ADGRD1 (I420L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2345255	NM_198827.5(ADGRD1):c.1196G>A (p.Arg399His)	ADGRD1 (R399H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611199	NM_198827.5(ADGRD1):c.1477C>T (p.Arg493Cys)	ADGRD1 (R525C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221680	NM_198827.5(ADGRD1):c.1491T>G (p.Ser497Arg)	ADGRD1 (S529R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547096	NM_198827.5(ADGRD1):c.1589C>T (p.Thr530Met)	ADGRD1 (T530M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643599	NM_198827.5(ADGRD1):c.1647C>T (p.Ile549=)	ADGRD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2485896	NM_198827.5(ADGRD1):c.1648C>A (p.Leu550Ile)	ADGRD1 (L550I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557359	NM_198827.5(ADGRD1):c.2083A>G (p.Met695Val)	ADGRD1 (M727V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321903	NM_198827.5(ADGRD1):c.2126C>T (p.Ala709Val)	ADGRD1 (A709V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290083	NM_198827.5(ADGRD1):c.2237A>G (p.Tyr746Cys)	ADGRD1 (Y746C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410532	NM_198827.5(ADGRD1):c.2258G>A (p.Ser753Asn)	ADGRD1 (S785N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561428	NM_198827.5(ADGRD1):c.2273C>T (p.Thr758Ile)	ADGRD1 (T758I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214058	NM_198827.5(ADGRD1):c.2329G>A (p.Val777Met)	ADGRD1 (V777M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226814	NM_198827.5(ADGRD1):c.2344G>A (p.Gly782Ser)	ADGRD1 (G814S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409879	NM_198827.5(ADGRD1):c.2495G>A (p.Arg832His)	ADGRD1 (R832H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643600	NM_198827.5(ADGRD1):c.2508G>A (p.Ala836=)	ADGRD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304785	NM_198827.5(ADGRD1):c.2560A>G (p.Thr854Ala)	ADGRD1 (T854A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340901	NM_198827.5(ADGRD1):c.2583G>C (p.Lys861Asn)	ADGRD1 (K893N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 981001	GRCh37/hg19 12q24.33(chr12:131573890-131839263)x3	ADGRD1	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 687663	GRCh37/hg19 12q24.33(chr12:131505849-132681966)x3	ADGRD1, DDX51 +6 more	Copy number gain	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 442786	GRCh37/hg19 12q24.33(chr12:131390795-132104151)x3	ADGRD1	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54