ClinVar for Gene (Select 66005) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	PGGHG, PHRF1 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3144364	NM_023947.4(CHID1):c.94A>G (p.Lys32Glu)	CHID1 (K32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144363	NM_023947.4(CHID1):c.754G>A (p.Val252Met)	CHID1 (V252M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144362	NM_023947.4(CHID1):c.315G>T (p.Gln105His)	CHID1 (Q105H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144361	NM_023947.4(CHID1):c.116A>G (p.Gln39Arg)	CHID1 (Q39R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144360	NM_023947.4(CHID1):c.1147G>A (p.Gly383Ser)	CHID1 (G383S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144359	NM_023947.4(CHID1):c.1097G>A (p.Arg366Gln)	CHID1 (R335Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144358	NM_023947.4(CHID1):c.952G>A (p.Gly318Arg)	CHID1 (G287R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063226	GRCh37/hg19 11p15.5(chr11:743761-894572)x1	CD151, CEND1 +10 more	Copy number loss	not specified	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2591086	NM_023947.4(CHID1):c.1063G>A (p.Val355Ile)	CHID1 (V324I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556925	NM_023947.4(CHID1):c.599A>G (p.Gln200Arg)	CHID1 (Q200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531806	NM_023947.4(CHID1):c.559G>A (p.Asp187Asn)	CHID1 (D187N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523872	NM_023947.4(CHID1):c.1060G>A (p.Val354Ile)	CHID1 (V323I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511706	NM_023947.4(CHID1):c.568G>A (p.Val190Met)	CHID1 (V190M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2496551	NM_023947.4(CHID1):c.559G>T (p.Asp187Tyr)	CHID1 (D212Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456361	NM_023947.4(CHID1):c.358A>T (p.Met120Leu)	CHID1 (M120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2399398	NM_023947.4(CHID1):c.706G>A (p.Asp236Asn)	CHID1 (D205N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328009	NM_023947.4(CHID1):c.656C>T (p.Ala219Val)	CHID1 (A219V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314100	NM_023947.4(CHID1):c.385G>A (p.Val129Met)	CHID1 (V129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293098	NM_023947.4(CHID1):c.725C>T (p.Thr242Met)	CHID1 (T242M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275195	NM_023947.4(CHID1):c.784G>A (p.Asp262Asn)	CHID1 (D231N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220167	NM_023947.4(CHID1):c.233C>T (p.Ala78Val)	CHID1 (A103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	AP2A2, BRSK2 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1341109	GRCh37/hg19 11p15.5(chr11:648556-1021236)x3	AP2A2, CD151 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	PTDSS2, RASSF7 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	BRSK2, AP2A2 +45 more	Duplication	Immunodeficiency 39 +1 more	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	INS-IGF2, IRF7 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 688905	GRCh37/hg19 11p15.5(chr11:900484-964271)x3	AP2A2, CHID1	Copy number gain	not provided	GUncertain significance
Select item 686337	GRCh37/hg19 11p15.5(chr11:900484-1006801)x3	AP2A2, CHID1	Copy number gain	not provided	GUncertain significance
Select item 685865	GRCh37/hg19 11p15.5(chr11:733608-986824)x3	AP2A2, CD151 +11 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	B4GALNT4, BET1L +132 more	Copy number gain	See cases	GPathogenic
Select item 221388	GRCh37/hg19 11p15.5(chr11:850336-1491561)x1	AP2A2, BRSK2 +8 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221343	Single allele	BRSK2, CHID1 +17 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

ClinVar

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Links from Gene

Items: 60