115548[Gene ID] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3278350	NM_138782.3(FCHO2):c.130A>G (p.Thr44Ala)	FCHO2 (T44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399976	NM_138782.3(FCHO2):c.320A>G (p.Glu107Gly)	FCHO2 (E107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330631	NM_138782.3(FCHO2):c.574G>A (p.Glu192Lys)	FCHO2 (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401951	NM_138782.3(FCHO2):c.585G>A (p.Met195Ile)	FCHO2 (M195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094103	NM_138782.3(FCHO2):c.686T>G (p.Leu229Trp)	FCHO2 (L229W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094104	NM_138782.3(FCHO2):c.691A>T (p.Ile231Leu)	FCHO2 (I231L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542674	NM_138782.3(FCHO2):c.717A>G (p.Ile239Met)	FCHO2 (I206M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543834	NM_138782.3(FCHO2):c.725T>C (p.Met242Thr)	FCHO2 (M209T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278346	NM_138782.3(FCHO2):c.877C>T (p.Pro293Ser)	FCHO2 (P260S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777168	NM_138782.3(FCHO2):c.882A>G (p.Gly294=)	FCHO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2322139	NM_138782.3(FCHO2):c.902A>T (p.Asp301Val)	FCHO2 (D268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278348	NM_138782.3(FCHO2):c.943A>G (p.Ile315Val)	FCHO2 (I282V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094105	NM_138782.3(FCHO2):c.943A>T (p.Ile315Phe)	FCHO2 (I282F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094095	NM_138782.3(FCHO2):c.1048G>A (p.Glu350Lys)	FCHO2 (E317K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278347	NM_138782.3(FCHO2):c.1192A>G (p.Met398Val)	FCHO2 (M365V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454254	NM_138782.3(FCHO2):c.1198C>T (p.Arg400Trp)	FCHO2 (R367W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278345	NM_138782.3(FCHO2):c.1251T>A (p.Asn417Lys)	FCHO2 (N384K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278351	NM_138782.3(FCHO2):c.1313C>A (p.Ser438Tyr)	FCHO2 (S438Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521756	NM_138782.3(FCHO2):c.1357A>G (p.Thr453Ala)	FCHO2 (T420A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557856	NM_138782.3(FCHO2):c.1421C>T (p.Ser474Leu)	FCHO2 (S474L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094096	NM_138782.3(FCHO2):c.1481A>G (p.Asn494Ser)	FCHO2 (N461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217716	NM_138782.3(FCHO2):c.1511C>G (p.Ala504Gly)	FCHO2 (A504G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602149	NM_138782.3(FCHO2):c.1514G>A (p.Arg505Gln)	FCHO2 (R472Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259927	NM_138782.3(FCHO2):c.1589G>A (p.Arg530Gln)	FCHO2 (R530Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595513	NM_138782.3(FCHO2):c.1881T>A (p.Asp627Glu)	FCHO2 (D594E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337499	NM_138782.3(FCHO2):c.1900G>A (p.Ala634Thr)	FCHO2 (A601T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094097	NM_138782.3(FCHO2):c.1948T>G (p.Ser650Ala)	FCHO2 (S617A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334592	NM_138782.3(FCHO2):c.1952A>C (p.Tyr651Ser)	FCHO2 (Y618S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531809	NM_138782.3(FCHO2):c.1981G>A (p.Val661Ile)	FCHO2 (V628I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094098	NM_138782.3(FCHO2):c.2026T>C (p.Tyr676His)	FCHO2 (Y643H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094099	NM_138782.3(FCHO2):c.2138A>G (p.Asp713Gly)	FCHO2 (D680G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774632	NM_138782.3(FCHO2):c.2301G>A (p.Thr767=)	FCHO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3094100	NM_138782.3(FCHO2):c.2350G>A (p.Asp784Asn)	FCHO2 (D751N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094101	NM_138782.3(FCHO2):c.2399G>A (p.Arg800Gln)	FCHO2 (R800Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207869	NM_138782.3(FCHO2):c.2428T>C (p.Cys810Arg)	FCHO2 (C777R +1 more)	Single nucleotide variant (missense variant)	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 685724	GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3	FCHO2, TMEM171 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685723	GRCh37/hg19 5q13.2(chr5:71721970-72431813)x3	FCHO2, TMEM171 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
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

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Items: 44