ClinVar for Gene (Select 645121) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3139948	NM_001039780.4(CCNI2):c.967T>C (p.Trp323Arg)	CCNI2, SEPTIN8 (W323R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139947	NM_001039780.4(CCNI2):c.88C>A (p.Leu30Met)	CCNI2 (L30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139946	NM_001039780.4(CCNI2):c.752C>T (p.Thr251Met)	CCNI2, SEPTIN8 (T251M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3139945	NM_001039780.4(CCNI2):c.475C>T (p.Arg159Trp)	CCNI2 (R160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139944	NM_001039780.4(CCNI2):c.30G>C (p.Gln10His)	CCNI2, LOC129994602 (Q10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139943	NM_001039780.4(CCNI2):c.308C>G (p.Pro103Arg)	CCNI2 (P103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139942	NM_001039780.4(CCNI2):c.307C>T (p.Pro103Ser)	CCNI2 (P103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139941	NM_001039780.4(CCNI2):c.270C>A (p.Asp90Glu)	CCNI2, LOC129994603 (D90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139940	NM_001039780.4(CCNI2):c.220G>T (p.Val74Phe)	CCNI2, LOC129994603 (V74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139939	NM_001039780.4(CCNI2):c.1025G>A (p.Ser342Asn)	CCNI2, SEPTIN8 (S358N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655696	NM_001039780.4(CCNI2):c.753G>A (p.Thr251=)	CCNI2, SEPTIN8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2621260	NM_001039780.4(CCNI2):c.802C>A (p.Pro268Thr)	CCNI2, SEPTIN8 (P284T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2606291	NM_001039780.4(CCNI2):c.950A>G (p.Glu317Gly)	CCNI2, SEPTIN8 (E318G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557783	NM_001039780.4(CCNI2):c.740T>C (p.Leu247Pro)	CCNI2, SEPTIN8 (L247P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523314	NM_001039780.4(CCNI2):c.329C>T (p.Pro110Leu)	CCNI2 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 2496112	NM_001039780.4(CCNI2):c.354C>A (p.Asp118Glu)	CCNI2 (D118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496111	NM_001039780.4(CCNI2):c.353A>T (p.Asp118Val)	CCNI2 (D118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484998	NM_001039780.4(CCNI2):c.529A>G (p.Ile177Val)	CCNI2 (I177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484732	NM_001039780.4(CCNI2):c.916A>C (p.Thr306Pro)	CCNI2, SEPTIN8 (T322P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484466	NM_001039780.4(CCNI2):c.1091T>C (p.Phe364Ser)	CCNI2, SEPTIN8 (F380S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459837	NM_001039780.4(CCNI2):c.131G>A (p.Gly44Glu)	CCNI2, LOC129994603 (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382830	NM_001039780.4(CCNI2):c.235C>G (p.Arg79Gly)	CCNI2, LOC129994603 (R79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365741	NM_001039780.4(CCNI2):c.668A>G (p.Tyr223Cys)	CCNI2, SEPTIN8 (Y224C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2258280	NM_001039780.4(CCNI2):c.705G>A (p.Met235Ile)	CCNI2, SEPTIN8 (M236I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2254057	NM_001039780.4(CCNI2):c.139C>T (p.Pro47Ser)	CCNI2, LOC129994603 (P47S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253921	NM_001039780.4(CCNI2):c.909G>C (p.Lys303Asn)	CCNI2, SEPTIN8 (K303N +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2219742	NM_001039780.4(CCNI2):c.92A>G (p.Glu31Gly)	CCNI2 (E31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218273	NM_001039780.4(CCNI2):c.1027T>C (p.Cys343Arg)	CCNI2, SEPTIN8 (C344R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208664	NM_001039780.4(CCNI2):c.755C>T (p.Pro252Leu)	CCNI2, SEPTIN8 (P253L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46