ClinVar for Gene (Select 1262) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268117	NM_001037329.4(CNGA4):c.502C>T (p.Arg168Cys)	CNGA4 (R168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268116	NM_001037329.4(CNGA4):c.1175A>T (p.Gln392Leu)	CNGA4 (Q392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268115	NM_001037329.4(CNGA4):c.227G>A (p.Ser76Asn)	CNGA4 (S76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268114	NM_001037329.4(CNGA4):c.1280G>A (p.Gly427Glu)	CNGA4 (G427E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146460	NM_001037329.4(CNGA4):c.985C>T (p.Arg329Trp)	CNGA4 (R329W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146459	NM_001037329.4(CNGA4):c.889C>G (p.Arg297Gly)	CNGA4 (R297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146458	NM_001037329.4(CNGA4):c.887A>G (p.Asn296Ser)	CNGA4 (N296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146457	NM_001037329.4(CNGA4):c.842C>T (p.Pro281Leu)	CNGA4 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146455	NM_001037329.4(CNGA4):c.619G>A (p.Ala207Thr)	CNGA4 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146454	NM_001037329.4(CNGA4):c.49C>T (p.Pro17Ser)	CNGA4 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146453	NM_001037329.4(CNGA4):c.380T>C (p.Val127Ala)	CNGA4 (V127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146452	NM_001037329.4(CNGA4):c.356T>C (p.Leu119Pro)	CNGA4 (L119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146450	NM_001037329.4(CNGA4):c.1618C>G (p.Pro540Ala)	CNGA4 (P540A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146449	NM_001037329.4(CNGA4):c.1547C>G (p.Ala516Gly)	CNGA4 (A516G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146448	NM_001037329.4(CNGA4):c.1486C>T (p.Arg496Trp)	CNGA4 (R496W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146447	NM_001037329.4(CNGA4):c.1059G>T (p.Glu353Asp)	CNGA4 (E353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621262	NM_001037329.4(CNGA4):c.152T>A (p.Ile51Asn)	CNGA4 (I51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612533	NM_001037329.4(CNGA4):c.358G>C (p.Ala120Pro)	CNGA4 (A120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612008	NM_001037329.4(CNGA4):c.1358T>C (p.Val453Ala)	CNGA4 (V453A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599084	NM_001037329.4(CNGA4):c.19G>T (p.Val7Leu)	CNGA4 (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597974	NM_001037329.4(CNGA4):c.710C>T (p.Pro237Leu)	CNGA4 (P237L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590148	NM_001037329.4(CNGA4):c.427C>T (p.Arg143Cys)	CNGA4 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552704	NM_001037329.4(CNGA4):c.1504C>G (p.Gln502Glu)	CNGA4 (Q502E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541519	NM_001037329.4(CNGA4):c.28A>T (p.Thr10Ser)	CNGA4 (T10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531083	NM_001037329.4(CNGA4):c.82G>T (p.Asp28Tyr)	CNGA4 (D28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520551	NM_001037329.4(CNGA4):c.1459A>T (p.Ile487Phe)	CNGA4 (I487F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507824	NM_001037329.4(CNGA4):c.986G>A (p.Arg329Gln)	CNGA4 (R329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2490054	NM_001037329.4(CNGA4):c.1169A>T (p.Glu390Val)	CNGA4 (E390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488186	NM_001037329.4(CNGA4):c.1067T>G (p.Leu356Arg)	CNGA4 (L356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487713	NM_001037329.4(CNGA4):c.638G>A (p.Arg213His)	CNGA4 (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409392	NM_001037329.4(CNGA4):c.157G>A (p.Val53Met)	CNGA4 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389206	NM_001037329.4(CNGA4):c.1564G>A (p.Ala522Thr)	CNGA4 (A522T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380704	NM_001037329.4(CNGA4):c.741G>C (p.Met247Ile)	CNGA4 (M247I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376270	NM_001037329.4(CNGA4):c.1194T>G (p.Asp398Glu)	CNGA4 (D398E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365057	NM_001037329.4(CNGA4):c.881A>C (p.His294Pro)	CNGA4 (H294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350032	NM_001037329.4(CNGA4):c.883G>A (p.Val295Ile)	CNGA4 (V295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350029	NM_001037329.4(CNGA4):c.1583G>A (p.Arg528His)	CNGA4 (R528H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315510	NM_001037329.4(CNGA4):c.1582C>A (p.Arg528Ser)	CNGA4 (R528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308383	NM_001037329.4(CNGA4):c.913G>A (p.Asp305Asn)	CNGA4 (D305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294400	NM_001037329.4(CNGA4):c.1072G>A (p.Glu358Lys)	CNGA4 (E358K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291275	NM_001037329.4(CNGA4):c.1129C>G (p.Arg377Gly)	CNGA4 (R377G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279686	NM_001037329.4(CNGA4):c.1129C>T (p.Arg377Cys)	CNGA4 (R377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269249	NM_001037329.4(CNGA4):c.1462G>A (p.Ala488Thr)	CNGA4 (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267148	NM_001037329.4(CNGA4):c.466C>T (p.Arg156Cys)	CNGA4 (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229709	NM_001037329.4(CNGA4):c.1493G>A (p.Arg498Gln)	CNGA4 (R498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225697	NM_001037329.4(CNGA4):c.266A>G (p.His89Arg)	CNGA4 (H89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	APBB1, ARFIP2 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 791171	NM_001037329.4(CNGA4):c.917+10C>T	CNGA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790360	NM_001037329.4(CNGA4):c.469A>G (p.Thr157Ala)	CNGA4 (T157A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784184	NM_001037329.4(CNGA4):c.1658A>T (p.Glu553Val)	CNGA4 (E553V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737590	NM_001037329.4(CNGA4):c.1A>G (p.Met1Val)	CNGA4 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 68