ClinVar for Gene (Select 4671) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174068	NM_004536.3(NAIP):c.8C>T (p.Thr3Ile)	NAIP (T3I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174064	NM_004536.3(NAIP):c.323G>A (p.Gly108Asp)	NAIP (G108D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174053	NM_004536.3(NAIP):c.232C>T (p.Pro78Ser)	NAIP (P78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174044	NM_004536.3(NAIP):c.140C>G (p.Ala47Gly)	NAIP (A47G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174037	NM_004536.3(NAIP):c.119A>G (p.Glu40Gly)	NAIP (E40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174035	NM_004536.3(NAIP):c.115G>A (p.Glu39Lys)	NAIP (E39K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 2655507	NM_004536.3(NAIP):c.100T>C (p.Leu34=)	NAIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2383823	NM_004536.3(NAIP):c.173G>A (p.Arg58His)	NAIP (R58H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377761	NM_004536.3(NAIP):c.250G>A (p.Ala84Thr)	NAIP (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 979682	GRCh37/hg19 5q13.2(chr5:68831650-70663428)x1	GTF2H2, GTF2H2C +6 more	Copy number loss	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 711015	NM_004536.3(NAIP):c.321C>T (p.Ala107=)	NAIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 710844	NM_004536.3(NAIP):c.189G>T (p.Arg63Ser)	NAIP (R63S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 549603	NC_000005.9:g.70308101_70657747del349647	GTF2H2, LINC02197 +3 more	Deletion	Primary amenorrhea	GBenign
Select item 549602	NC_000005.9:g.69767948_70345611del577664	GTF2H2, LOC111089946 +4 more	Deletion	Primary amenorrhea	GBenign
Select item 549601	NC_000005.9:g.69741318_70422356del681039	GTF2H2, LOC111089946 +5 more	Deletion	Primary amenorrhea	GBenign
Select item 549600	NC_000005.10:g.69553767_71361920dup	GTF2H2, GTF2H2C +11 more	Duplication	Primary amenorrhea	GBenign
Select item 549599	NC_000005.9:g.68818173_70657747del1839575	GTF2H2, GTF2H2C +12 more	Deletion	Primary amenorrhea	GBenign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 393584	GRCh37/hg19 5q13.2(chr5:68728731-68849653)x3	GTF2H2C, MARVELD2 +7 more	Copy number gain	not specified	GLikely benign
Select item 156975	NM_004536.3(NAIP):c.569-263_668+1406del	NAIP	Deletion (intron variant +2 more)	Large for gestational age +2 more	Gnot provided
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 154418	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154407	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154370	GRCh38/hg38 5q13.2(chr5:69942862-71032915)x1	LOC111089946, LOC113002590 +6 more	Copy number loss	See cases	GBenign
Select item 154352	GRCh38/hg38 5q13.2(chr5:69679482-71193646)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 154341	GRCh38/hg38 5q13.2(chr5:69679482-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 153027	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 153007	GRCh38/hg38 5q13.2(chr5:70076645-71090773)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 150951	GRCh38/hg38 5q13.2(chr5:70951942-71291192)x1	GTF2H2, LOC111089946 +3 more	Copy number loss	See cases	GBenign/Likely benign
Select item 150774	GRCh38/hg38 5q13.2(chr5:69495443-71032915)x1	GTF2H2C, LOC111089946 +9 more	Copy number loss	See cases	GBenign
Select item 150655	GRCh38/hg38 5q13.2(chr5:69553776-71317498)x1	GTF2H2, GTF2H2C +10 more	Copy number loss	See cases	GBenign
Select item 150172	GRCh38/hg38 5q13.2(chr5:69568368-71317498)x1	GTF2H2, GTF2H2C +9 more	Copy number loss	See cases	GLikely benign
Select item 150010	GRCh38/hg38 5q13.2(chr5:70076623-71090767)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149822	GRCh38/hg38 5q13.2(chr5:70436335-71090767)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 147000	GRCh38/hg38 5q13.2(chr5:70130451-71013999)x1	LOC113002590, NAIP +3 more	Copy number loss	See cases	GBenign
Select item 146957	GRCh38/hg38 5q13.2(chr5:70409765-71090744)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 146873	GRCh38/hg38 5q13.2(chr5:70436335-71291192)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 146734	GRCh38/hg38 5q13.2(chr5:70076623-71291192)x1	GTF2H2, LOC111089946 +7 more	Copy number loss	See cases	GBenign
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 145406	GRCh38/hg38 5q13.2(chr5:70076623-71032915)x1	LOC111089946, LOC113002590 +5 more	Copy number loss	See cases	GBenign
Select item 145397	GRCh38/hg38 5q13.2(chr5:69942862-71090767)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 145341	GRCh38/hg38 5q13.2(chr5:70547824-71291192)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 145327	GRCh38/hg38 5q13.2(chr5:69942862-71291192)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign/Likely benign
Select item 144696	GRCh38/hg38 5q13.2(chr5:69942862-71032915)x3	LOC111089946, LOC113002590 +6 more	Copy number gain	See cases	GBenign
Select item 144560	GRCh38/hg38 5q13.2(chr5:69640103-71317302)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 144512	GRCh38/hg38 5q13.2(chr5:69942850-71032915)x1	LOC111089946, LOC113002590 +6 more	Copy number loss	See cases	GBenign
Select item 144511	GRCh38/hg38 5q13.2(chr5:69942850-71032915)x3	LOC111089946, LOC113002590 +6 more	Copy number gain	See cases	GBenign
Select item 144507	GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3	GTF2H2, LOC111089946 +7 more	Copy number gain	See cases	GBenign
Select item 144467	GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 144400	GRCh38/hg38 5q13.2(chr5:70547802-71291191)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 144258	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 144257	GRCh38/hg38 5q13.2(chr5:69942850-71090773)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 144186	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x3	GTF2H2, LOC111089946 +8 more	Copy number gain	See cases	GBenign
Select item 144148	GRCh38/hg38 5q13.2(chr5:70436365-71291191)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 57346	GRCh38/hg38 5q13.2(chr5:69942850-71014028)x1	LOC113002590, NAIP +5 more	Copy number loss	See cases	GBenign
Select item 57319	GRCh38/hg38 5q13.2(chr5:70436365-71014028)x1	NAIP, SERF1A +2 more	Copy number loss	See cases	GBenign
Select item 57277	GRCh38/hg38 5q13.2(chr5:70436365-71090773)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign
Select item 57276	GRCh38/hg38 5q13.2(chr5:70436365-71090773)x3	GTF2H2, LOC111089946 +5 more	Copy number gain	See cases	GBenign
Select item 57058	GRCh38/hg38 5q13.2(chr5:70436365-71420835)x1	GTF2H2, LINC02197 +6 more	Copy number loss	See cases	GBenign
Select item 32259	GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1	GTF2H2, LOC111089946 +8 more	Copy number loss	See cases	GBenign
Select item 32199	GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1	GTF2H2, LOC111089946 +5 more	Copy number loss	See cases	GBenign

ClinVar

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Germline classification

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Links from Gene

Items: 69