FHIP1B[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3095010	NM_001098794.2(FHIP1B):c.2740C>T (p.Arg914Cys)	FHIP1B (R914C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095009	NM_001098794.2(FHIP1B):c.2723G>A (p.Arg908Gln)	FHIP1B (R908Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095008	NM_001098794.2(FHIP1B):c.2657G>A (p.Arg886Gln)	FHIP1B (R900Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278797	NM_001098794.2(FHIP1B):c.2623C>T (p.Arg875Trp)	FHIP1B (R875W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492126	NM_001098794.2(FHIP1B):c.2603C>T (p.Ala868Val)	FHIP1B (A882V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095007	NM_001098794.2(FHIP1B):c.2586G>T (p.Glu862Asp)	FHIP1B (E862D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095006	NM_001098794.2(FHIP1B):c.2567G>A (p.Arg856Gln)	FHIP1B (R870Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479468	NM_001098794.2(FHIP1B):c.2566C>T (p.Arg856Trp)	FHIP1B (R870W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219307	NM_001098794.2(FHIP1B):c.2542C>T (p.Arg848Cys)	FHIP1B (R848C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3095005	NM_001098794.2(FHIP1B):c.2504A>G (p.Asp835Gly)	FHIP1B (D849G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095003	NM_001098794.2(FHIP1B):c.2414A>G (p.Asn805Ser)	FHIP1B (N805S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095002	NM_001098794.2(FHIP1B):c.2353A>G (p.Thr785Ala)	FHIP1B (T799A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641548	NM_001098794.2(FHIP1B):c.2298G>C (p.Leu766=)	FHIP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2454371	NM_001098794.2(FHIP1B):c.2125G>A (p.Glu709Lys)	FHIP1B (E709K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278801	NM_001098794.2(FHIP1B):c.2104C>A (p.Leu702Ile)	FHIP1B (L702I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095001	NM_001098794.2(FHIP1B):c.2078A>G (p.Glu693Gly)	FHIP1B (E693G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508398	NM_001098794.2(FHIP1B):c.2045A>G (p.Glu682Gly)	FHIP1B (E696G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095000	NM_001098794.2(FHIP1B):c.2036G>A (p.Arg679Gln)	FHIP1B (R679Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094999	NM_001098794.2(FHIP1B):c.2035C>T (p.Arg679Trp)	FHIP1B (R693W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462565	NM_001098794.2(FHIP1B):c.2033T>C (p.Leu678Pro)	FHIP1B (L692P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547659	NM_001098794.2(FHIP1B):c.1996G>A (p.Glu666Lys)	FHIP1B (E666K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589225	NM_001098794.2(FHIP1B):c.1970C>G (p.Ala657Gly)	FHIP1B (A671G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094998	NM_001098794.2(FHIP1B):c.1949G>A (p.Arg650His)	FHIP1B (R650H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094997	NM_001098794.2(FHIP1B):c.1948C>T (p.Arg650Cys)	FHIP1B (R664C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094995	NM_001098794.2(FHIP1B):c.1847G>A (p.Arg616Lys)	FHIP1B (R616K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094994	NM_001098794.2(FHIP1B):c.1807A>G (p.Arg603Gly)	FHIP1B (R603G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094993	NM_001098794.2(FHIP1B):c.1781A>G (p.Lys594Arg)	FHIP1B (K608R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560447	NM_001098794.2(FHIP1B):c.1771C>T (p.Arg591Trp)	FHIP1B (R591W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094992	NM_001098794.2(FHIP1B):c.1745C>T (p.Ser582Phe)	FHIP1B (S582F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094991	NM_001098794.2(FHIP1B):c.1723C>T (p.Pro575Ser)	FHIP1B (P575S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094990	NM_001098794.2(FHIP1B):c.1690C>T (p.Arg564Cys)	FHIP1B (R578C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094989	NM_001098794.2(FHIP1B):c.1678C>T (p.Arg560Cys)	FHIP1B (R560C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094987	NM_001098794.2(FHIP1B):c.1666C>T (p.Arg556Cys)	FHIP1B (R570C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094985	NM_001098794.2(FHIP1B):c.1609C>T (p.Arg537Trp)	FHIP1B (R551W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3234624	NM_001098794.2(FHIP1B):c.1605C>T (p.Gly535=)	FHIP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3094984	NM_001098794.2(FHIP1B):c.1519C>T (p.Arg507Trp)	FHIP1B (R521W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094983	NM_001098794.2(FHIP1B):c.1501C>T (p.Arg501Cys)	FHIP1B (R501C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094982	NM_001098794.2(FHIP1B):c.1460C>G (p.Ser487Cys)	FHIP1B (S487C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094981	NM_001098794.2(FHIP1B):c.1453G>T (p.Val485Leu)	FHIP1B (V499L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458852	NM_001098794.2(FHIP1B):c.1444A>G (p.Ser482Gly)	FHIP1B (S482G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278800	NM_001098794.2(FHIP1B):c.1421C>G (p.Ala474Gly)	FHIP1B (A474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486978	NM_001098794.2(FHIP1B):c.1409G>A (p.Arg470His)	FHIP1B (R470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278803	NM_001098794.2(FHIP1B):c.1408C>A (p.Arg470Ser)	FHIP1B (R470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278796	NM_001098794.2(FHIP1B):c.1408C>T (p.Arg470Cys)	FHIP1B (R470C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278799	NM_001098794.2(FHIP1B):c.1384C>T (p.Arg462Trp)	FHIP1B (R462W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094979	NM_001098794.2(FHIP1B):c.1381T>G (p.Cys461Gly)	FHIP1B (C461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094978	NM_001098794.2(FHIP1B):c.1150A>G (p.Ile384Val)	FHIP1B (I384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094977	NM_001098794.2(FHIP1B):c.1133G>A (p.Arg378Gln)	FHIP1B (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094976	NM_001098794.2(FHIP1B):c.1108T>A (p.Phe370Ile)	FHIP1B (F370I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094974	NM_001098794.2(FHIP1B):c.1049G>T (p.Ser350Ile)	FHIP1B (S350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095023	NM_001098794.2(FHIP1B):c.983A>C (p.Asn328Thr)	FHIP1B (N328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592226	NM_001098794.2(FHIP1B):c.755C>T (p.Ala252Val)	FHIP1B (A252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095021	NM_001098794.2(FHIP1B):c.643C>T (p.Arg215Cys)	FHIP1B (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095020	NM_001098794.2(FHIP1B):c.625C>T (p.Arg209Cys)	FHIP1B (R209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095019	NM_001098794.2(FHIP1B):c.604C>T (p.Pro202Ser)	FHIP1B (P202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095018	NM_001098794.2(FHIP1B):c.583G>A (p.Glu195Lys)	FHIP1B (E195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095017	NM_001098794.2(FHIP1B):c.559G>A (p.Val187Met)	FHIP1B (V187M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095016	NM_001098794.2(FHIP1B):c.551G>A (p.Cys184Tyr)	FHIP1B (C184Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095014	NM_001098794.2(FHIP1B):c.367G>A (p.Val123Ile)	FHIP1B (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095013	NM_001098794.2(FHIP1B):c.361G>A (p.Asp121Asn)	FHIP1B (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095012	NM_001098794.2(FHIP1B):c.310G>C (p.Asp104His)	FHIP1B (D104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278804	NM_001098794.2(FHIP1B):c.269C>T (p.Pro90Leu)	FHIP1B (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095004	NM_001098794.2(FHIP1B):c.251G>A (p.Arg84His)	FHIP1B (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094996	NM_001098794.2(FHIP1B):c.196C>T (p.Leu66Phe)	FHIP1B (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094988	NM_001098794.2(FHIP1B):c.170G>A (p.Arg57Gln)	FHIP1B (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094986	NM_001098794.2(FHIP1B):c.169C>T (p.Arg57Trp)	FHIP1B (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617988	NM_001098794.2(FHIP1B):c.157C>T (p.Arg53Trp)	FHIP1B (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094980	NM_001098794.2(FHIP1B):c.146G>A (p.Arg49Gln)	FHIP1B (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095022	NM_001098794.2(FHIP1B):c.91G>A (p.Ala31Thr)	FHIP1B (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278798	NM_001098794.2(FHIP1B):c.53G>A (p.Arg18His)	FHIP1B (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470993	NM_001098794.2(FHIP1B):c.38G>A (p.Arg13Gln)	FHIP1B (R13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095015	NM_001098794.2(FHIP1B):c.37C>T (p.Arg13Trp)	FHIP1B (R13W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094975	NM_001098794.2(FHIP1B):c.10A>T (p.Met4Leu)	FHIP1B (M4L)	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 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 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

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Items: 91