ClinVar for Gene (Select 25896) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 3110230	NM_015434.4(INTS7):c.967G>A (p.Ala323Thr)	INTS7 (A274T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110229	NM_015434.4(INTS7):c.888T>G (p.Cys296Trp)	INTS7 (C247W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110228	NM_015434.4(INTS7):c.844A>G (p.Lys282Glu)	INTS7 (K282E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110227	NM_015434.4(INTS7):c.443A>G (p.Asp148Gly)	INTS7 (D148G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110226	NM_015434.4(INTS7):c.2759C>T (p.Thr920Ile)	INTS7 (T920I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110225	NM_015434.4(INTS7):c.2408G>A (p.Ser803Asn)	INTS7 (S783N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110224	NM_015434.4(INTS7):c.2070G>C (p.Gln690His)	INTS7 (Q641H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110223	NM_015434.4(INTS7):c.2036G>A (p.Arg679Gln)	INTS7 (R630Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110222	NM_015434.4(INTS7):c.1465C>A (p.Leu489Ile)	INTS7 (L489I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110221	NM_015434.4(INTS7):c.1249G>A (p.Val417Met)	INTS7 (V368M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110220	NM_015434.4(INTS7):c.1194T>G (p.Ser398Arg)	INTS7 (S398R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110219	NM_015434.4(INTS7):c.1010C>T (p.Ser337Phe)	INTS7 (S337F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054417	NM_015434.4(INTS7):c.2336A>G (p.Asn779Ser)	INTS7 (N730S +2 more)	Single nucleotide variant (missense variant +2 more)	INTS7-related disorder	GLikely benign
Select item 3044882	NM_015434.4(INTS7):c.1046A>G (p.Gln349Arg)	INTS7 (Q300R +1 more)	Single nucleotide variant (missense variant +1 more)	INTS7-related disorder	GUncertain significance
Select item 2611222	NM_015434.4(INTS7):c.2827C>G (p.Gln943Glu)	INTS7 (Q943E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603269	NM_015434.4(INTS7):c.2040C>A (p.Ser680Arg)	INTS7 (S680R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601042	NM_015434.4(INTS7):c.121C>G (p.Gln41Glu)	INTS7 (Q41E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594337	NM_015434.4(INTS7):c.621T>A (p.Asp207Glu)	INTS7 (D158E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566839	NM_015434.4(INTS7):c.740T>C (p.Val247Ala)	INTS7 (V198A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560030	NM_015434.4(INTS7):c.691G>A (p.Val231Met)	INTS7 (V182M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527057	NM_015434.4(INTS7):c.1145T>C (p.Leu382Pro)	INTS7 (L333P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525382	NM_015434.4(INTS7):c.370C>T (p.Arg124Trp)	INTS7 (R124W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524430	NM_015434.4(INTS7):c.2870A>G (p.Asn957Ser)	INTS7 (N908S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514271	NM_015434.4(INTS7):c.1337G>A (p.Arg446Gln)	INTS7 (R446Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512132	NM_015434.4(INTS7):c.2489A>C (p.Lys830Thr)	INTS7 (K781T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492961	NM_015434.4(INTS7):c.1672T>A (p.Phe558Ile)	INTS7 (F509I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492960	NM_015434.4(INTS7):c.1562C>G (p.Ser521Cys)	INTS7 (S521C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399468	NM_015434.4(INTS7):c.1960G>A (p.Ala654Thr)	INTS7 (A605T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391004	NM_015434.4(INTS7):c.1837C>G (p.Pro613Ala)	INTS7 (P564A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372091	NM_015434.4(INTS7):c.1310A>C (p.Gln437Pro)	INTS7 (Q388P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371265	NM_015434.4(INTS7):c.881C>T (p.Ala294Val)	INTS7 (A294V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364998	NM_015434.4(INTS7):c.1093A>G (p.Arg365Gly)	INTS7 (R316G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364235	NM_015434.4(INTS7):c.2632G>C (p.Glu878Gln)	INTS7 (E829Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340730	NM_015434.4(INTS7):c.791C>T (p.Pro264Leu)	INTS7 (P264L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324656	NM_015434.4(INTS7):c.2533C>T (p.Arg845Cys)	INTS7 (R796C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311903	NM_015434.4(INTS7):c.437G>A (p.Ser146Asn)	INTS7 (S97N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296869	NM_015434.4(INTS7):c.2507A>G (p.Gln836Arg)	INTS7 (Q836R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282368	NM_015434.4(INTS7):c.815C>G (p.Ala272Gly)	INTS7 (A272G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223028	NM_015434.4(INTS7):c.1538T>C (p.Ile513Thr)	INTS7 (I513T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
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 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565219	GRCh37/hg19 1q32.3(chr1:212045719-212181286)x1	INTS7	Copy number loss	not provided	GUncertain significance
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +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	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +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	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 59