ClinVar for Gene (Select 79802) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062480	GRCh37/hg19 1q41(chr1:222698623-224065782)x3	AIDA, BROX +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685843	GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1	AIDA, BROX +11 more	Copy number loss	not provided	GUncertain significance
Select item 2618061	NM_024746.4(HHIPL2):c.310A>G (p.Ile104Val)	HHIPL2 (I104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610931	NM_024746.4(HHIPL2):c.1007A>G (p.Asn336Ser)	HHIPL2 (N336S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593794	NM_024746.4(HHIPL2):c.1859G>C (p.Ser620Thr)	HHIPL2 (S620T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589938	NM_024746.4(HHIPL2):c.1947T>A (p.Ser649Arg)	HHIPL2 (S649R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549593	NM_024746.4(HHIPL2):c.1535C>A (p.Pro512Gln)	HHIPL2 (P512Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549387	NM_024746.4(HHIPL2):c.796C>T (p.Pro266Ser)	HHIPL2 (P266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544726	NM_024746.4(HHIPL2):c.20C>T (p.Pro7Leu)	HHIPL2 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533361	NM_024746.4(HHIPL2):c.128C>G (p.Pro43Arg)	HHIPL2 (P43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526227	NM_024746.4(HHIPL2):c.2153G>C (p.Arg718Pro)	HHIPL2 (R718P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463805	NM_024746.4(HHIPL2):c.230G>T (p.Arg77Leu)	HHIPL2 (R77L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454477	NM_024746.4(HHIPL2):c.1358T>C (p.Val453Ala)	HHIPL2 (V453A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410891	NM_024746.4(HHIPL2):c.781A>C (p.Ile261Leu)	HHIPL2 (I261L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399762	NM_024746.4(HHIPL2):c.1442C>T (p.Ala481Val)	HHIPL2 (A481V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399761	NM_024746.4(HHIPL2):c.1441G>T (p.Ala481Ser)	HHIPL2 (A481S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392911	NM_024746.4(HHIPL2):c.1586T>C (p.Met529Thr)	HHIPL2 (M529T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391017	NM_024746.4(HHIPL2):c.727G>T (p.Val243Phe)	HHIPL2 (V243F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378624	NM_024746.4(HHIPL2):c.358G>A (p.Glu120Lys)	HHIPL2 (E120K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374998	NM_024746.4(HHIPL2):c.659T>A (p.Val220Asp)	HHIPL2 (V220D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359141	NM_024746.4(HHIPL2):c.782T>G (p.Ile261Ser)	HHIPL2 (I261S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350579	NM_024746.4(HHIPL2):c.793A>G (p.Thr265Ala)	HHIPL2 (T265A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344076	NM_024746.4(HHIPL2):c.1864C>T (p.Arg622Trp)	HHIPL2 (R622W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340415	NM_024746.4(HHIPL2):c.1757G>C (p.Ser586Thr)	HHIPL2 (S586T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333916	NM_024746.4(HHIPL2):c.1799C>T (p.Pro600Leu)	HHIPL2 (P600L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329214	NM_024746.4(HHIPL2):c.1846G>C (p.Val616Leu)	HHIPL2 (V616L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328988	NM_024746.4(HHIPL2):c.630C>A (p.Ser210Arg)	HHIPL2 (S210R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316079	NM_024746.4(HHIPL2):c.2069T>C (p.Val690Ala)	HHIPL2 (V690A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302141	NM_024746.4(HHIPL2):c.419T>C (p.Phe140Ser)	HHIPL2 (F140S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297925	NM_024746.4(HHIPL2):c.902T>C (p.Val301Ala)	HHIPL2 (V301A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288613	NM_024746.4(HHIPL2):c.860G>T (p.Arg287Leu)	HHIPL2 (R287L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280926	NM_024746.4(HHIPL2):c.1952C>T (p.Thr651Ile)	HHIPL2 (T651I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264835	NM_024746.4(HHIPL2):c.838C>T (p.His280Tyr)	HHIPL2 (H280Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264169	NM_024746.4(HHIPL2):c.1657T>C (p.Cys553Arg)	HHIPL2 (C553R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262927	NM_024746.4(HHIPL2):c.1381A>G (p.Asn461Asp)	HHIPL2 (N461D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261934	NM_024746.4(HHIPL2):c.1288G>A (p.Asp430Asn)	HHIPL2 (D430N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257147	NM_024746.4(HHIPL2):c.710A>G (p.Gln237Arg)	HHIPL2 (Q237R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235980	NM_024746.4(HHIPL2):c.745A>G (p.Ser249Gly)	HHIPL2 (S249G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232803	NM_024746.4(HHIPL2):c.1226C>A (p.Ala409Asp)	HHIPL2 (A409D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220252	NM_024746.4(HHIPL2):c.1069G>A (p.Gly357Arg)	HHIPL2 (G357R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213862	NM_024746.4(HHIPL2):c.46C>T (p.Arg16Trp)	HHIPL2 (R16W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207774	NM_024746.4(HHIPL2):c.551T>A (p.Val184Asp)	HHIPL2 (V184D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527570	GRCh37/hg19 1q41(chr1:222153928-223209242)	AIDA, BROX +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979934	GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1	TLR5, DEGS1 +16 more	Copy number loss	not provided	GPathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 788771	NM_024746.4(HHIPL2):c.225C>T (p.Asp75=)	HHIPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776341	NM_024746.4(HHIPL2):c.2097G>A (p.Arg699=)	HHIPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728848	NM_024746.4(HHIPL2):c.589G>A (p.Val197Met)	HHIPL2 (V197M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720660	NM_024746.4(HHIPL2):c.1459C>A (p.Leu487Met)	HHIPL2 (L487M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 716062	NM_024746.4(HHIPL2):c.2046dup (p.Gly683fs)	HHIPL2 (G683fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 709036	NM_024746.4(HHIPL2):c.490dup (p.Asp164fs)	HHIPL2 (D164fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 148650	GRCh38/hg38 1q41(chr1:221979950-223007060)x3	AIDA, BROX +34 more	Copy number gain	See cases	GUncertain significance
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76