ClinVar for Gene (Select 23647) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310491	NM_001376558.2(ARFIP2):c.443G>A (p.Arg148Gln)	ARFIP2 (R120Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310481	NM_001376558.2(ARFIP2):c.767G>A (p.Gly256Asp)	ARFIP2 (G217D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128427	NM_001376558.2(ARFIP2):c.805C>T (p.Arg269Trp)	ARFIP2 (R184W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128426	NM_001376558.2(ARFIP2):c.413G>A (p.Arg138His)	ARFIP2 (R171H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128425	NM_001376558.2(ARFIP2):c.153G>A (p.Val51=)	ARFIP2 (C6Y)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3128424	NM_001376558.2(ARFIP2):c.983G>A (p.Arg328Gln)	ARFIP2 (R289Q +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615351	NM_001376558.2(ARFIP2):c.905A>G (p.His302Arg)	ARFIP2 (H274R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533137	NM_001376558.2(ARFIP2):c.779G>A (p.Ser260Asn)	ARFIP2 (S175N +8 more)	Single nucleotide variant (missense variant +1 more)	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 2463069	NM_001376558.2(ARFIP2):c.76C>T (p.Pro26Ser)	ARFIP2 (P26S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2423019	NC_000011.9:g.(?_6411829)_(6662844_?)dup	APBB1, ARFIP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2400741	NM_001376558.2(ARFIP2):c.917C>T (p.Ser306Phe)	ARFIP2 (S267F +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355813	NM_001376558.2(ARFIP2):c.607G>A (p.Val203Met)	ARFIP2 (V187M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345468	NM_001376558.2(ARFIP2):c.188T>C (p.Ile63Thr)	ARFIP2 (I25T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322487	NM_001376558.2(ARFIP2):c.697C>G (p.Leu233Val)	ARFIP2 (L194V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304582	NM_001376558.2(ARFIP2):c.197-87C>T	ARFIP2 (S70L)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2252987	NM_001376558.2(ARFIP2):c.197-16G>A	ARFIP2 (E33K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232440	NM_001376558.2(ARFIP2):c.364G>A (p.Val122Met)	ARFIP2 (V155M +5 more)	Single nucleotide variant (missense variant +1 more)	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 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
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 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 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36