ClinVar for Gene (Select 84498) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277126	NM_032448.3(FAM120B):c.884C>T (p.Ala295Val)	FAM120B (A295V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277125	NM_032448.3(FAM120B):c.185G>A (p.Gly62Asp)	FAM120B (G85D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277124	NM_032448.3(FAM120B):c.92G>A (p.Arg31Gln)	FAM120B (R54Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3091755	NM_032448.3(FAM120B):c.506A>G (p.Gln169Arg)	FAM120B (Q169R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091754	NM_032448.3(FAM120B):c.38C>T (p.Thr13Ile)	FAM120B (T25I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091753	NM_032448.3(FAM120B):c.2604G>C (p.Arg868Ser)	FAM120B (R880S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091752	NM_032448.3(FAM120B):c.2560C>T (p.Arg854Cys)	FAM120B (R186C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091751	NM_032448.3(FAM120B):c.2392G>C (p.Asp798His)	FAM120B (D821H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091750	NM_032448.3(FAM120B):c.218A>G (p.Asp73Gly)	FAM120B (D96G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091749	NM_032448.3(FAM120B):c.1943A>C (p.Lys648Thr)	FAM120B (K660T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091748	NM_032448.3(FAM120B):c.1810A>G (p.Ser604Gly)	FAM120B (S604G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091747	NM_032448.3(FAM120B):c.1370C>A (p.Pro457His)	FAM120B (P469H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091746	NM_032448.3(FAM120B):c.1280T>C (p.Met427Thr)	FAM120B (M439T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091745	NM_032448.3(FAM120B):c.1259A>T (p.Glu420Val)	FAM120B (E432V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091744	NM_032448.3(FAM120B):c.1108G>A (p.Asp370Asn)	FAM120B (D370N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091743	NM_032448.3(FAM120B):c.1003G>A (p.Ala335Thr)	FAM120B (A335T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062904	GRCh37/hg19 6q27(chr6:170158867-170919482)x1	DLL1, ERMARD +4 more	Copy number loss	not specified	GLikely pathogenic
Select item 3024839	NM_032448.3(FAM120B):c.1327T>C (p.Ser443Pro)	FAM120B (S443P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685224	GRCh37/hg19 6q27(chr6:170466312-170919482)x1	DLL1, FAM120B +3 more	Copy number loss	not provided	GPathogenic
Select item 2685223	GRCh37/hg19 6q27(chr6:170441452-170808613)x1	DLL1, FAM120B	Copy number loss	not provided	GPathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2621747	NM_032448.3(FAM120B):c.644T>C (p.Leu215Pro)	FAM120B (L227P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612486	NM_032448.3(FAM120B):c.1544T>C (p.Ile515Thr)	FAM120B (I515T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608953	NM_032448.3(FAM120B):c.1111T>C (p.Ser371Pro)	FAM120B (S394P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2597013	NM_032448.3(FAM120B):c.959G>A (p.Gly320Asp)	FAM120B (G332D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592844	NM_032448.3(FAM120B):c.1530A>G (p.Ile510Met)	FAM120B (I510M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2591184	NM_032448.3(FAM120B):c.1854G>C (p.Gln618His)	FAM120B (Q618H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2532217	NM_032448.3(FAM120B):c.1627G>C (p.Glu543Gln)	FAM120B (E566Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529741	NM_032448.3(FAM120B):c.101A>T (p.Tyr34Phe)	FAM120B (Y34F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517935	NM_032448.3(FAM120B):c.2612G>A (p.Arg871Lys)	FAM120B (R203K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485587	NM_032448.3(FAM120B):c.1209G>A (p.Met403Ile)	FAM120B (M403I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2458995	NM_032448.3(FAM120B):c.1934T>C (p.Leu645Pro)	FAM120B (L657P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2407037	NM_032448.3(FAM120B):c.760A>G (p.Lys254Glu)	FAM120B (K254E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406213	NM_032448.3(FAM120B):c.697A>G (p.Ile233Val)	FAM120B (I245V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387022	NM_032448.3(FAM120B):c.1505A>G (p.His502Arg)	FAM120B (H525R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362315	NM_032448.3(FAM120B):c.2479T>G (p.Leu827Val)	FAM120B (L159V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360963	NM_032448.3(FAM120B):c.2498G>A (p.Arg833Gln)	FAM120B (R856Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349986	NM_032448.3(FAM120B):c.583G>A (p.Glu195Lys)	FAM120B (E195K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318932	NM_032448.3(FAM120B):c.1357A>G (p.Thr453Ala)	FAM120B (T453A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303520	NM_032448.3(FAM120B):c.487G>A (p.Val163Ile)	FAM120B (V186I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300623	NM_032448.3(FAM120B):c.819A>C (p.Lys273Asn)	FAM120B (K273N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292877	NM_032448.3(FAM120B):c.1364C>T (p.Ser455Phe)	FAM120B (S455F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265211	NM_032448.3(FAM120B):c.1537G>C (p.Asp513His)	FAM120B (D525H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264962	NM_032448.3(FAM120B):c.475G>A (p.Ala159Thr)	FAM120B (A159T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259199	NM_032448.3(FAM120B):c.1153C>T (p.Pro385Ser)	FAM120B (P397S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2234326	NM_032448.3(FAM120B):c.1067G>T (p.Cys356Phe)	FAM120B (C368F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226593	NM_032448.3(FAM120B):c.137T>C (p.Met46Thr)	FAM120B (M58T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225973	NM_032448.3(FAM120B):c.277G>A (p.Val93Met)	FAM120B (V105M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220473	NM_032448.3(FAM120B):c.1526C>T (p.Pro509Leu)	FAM120B (P509L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214912	NM_032448.3(FAM120B):c.1006G>A (p.Glu336Lys)	FAM120B (E348K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212786	NM_032448.3(FAM120B):c.1687G>A (p.Glu563Lys)	FAM120B (E575K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1711162	GRCh37/hg19 6q27(chr6:170657577-170919482)x1	FAM120B, PDCD2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1711095	GRCh37/hg19 6q27(chr6:168552894-170919482)x1	C6orf120, DACT2 +11 more	Copy number loss	See cases	GPathogenic
Select item 1706509	GRCh37/hg19 6q27(chr6:167770398-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703662	GRCh37/hg19 6q27(chr6:168643852-170919482)	C6orf120, DACT2 +11 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1527330	GRCh37/hg19 6q27(chr6:170262214-170919482)	DLL1, FAM120B +3 more	Copy number loss	not specified	GPathogenic
Select item 1527329	GRCh37/hg19 6q27(chr6:170230181-170919482)	DLL1, FAM120B +3 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340986	GRCh37/hg19 6q27(chr6:168939661-170919482)x1	C6orf120, DLL1 +10 more	Copy number loss	not provided	GPathogenic
Select item 1340090	GRCh37/hg19 6q27(chr6:168051206-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	not provided	GPathogenic
Select item 1330195	GRCh37/hg19 6q27(chr6:169830713-171022896)x1	C6orf120, DLL1 +8 more	Copy number loss	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 979749	GRCh37/hg19 6q27(chr6:167580012-170919482)x1	AFDN, C6orf120 +17 more	Copy number loss	not provided	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 814910	GRCh37/hg19 6q27(chr6:170356782-170618134)x3	FAM120B, DLL1	Copy number gain	not provided	GUncertain significance
Select item 814909	GRCh37/hg19 6q27(chr6:170331096-170919482)x1	PSMB1, PDCD2 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 814908	GRCh37/hg19 6q27(chr6:170136337-170919482)x1	PSMB1, DLL1 +5 more	Copy number loss	not provided	GPathogenic
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 685152	GRCh37/hg19 6q27(chr6:170653923-170919482)x3	FAM120B, PDCD2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625666	GRCh37/hg19 6q27(chr6:168311806-170881789)	AFDN, C6orf120 +13 more	Copy number loss	not provided	GPathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563263	GRCh37/hg19 6q27(chr6:170331096-170894127)x3	TBP, PDCD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563258	GRCh37/hg19 6q27(chr6:167388817-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 560073	Single allele	DLL1, FAM120B +3 more	Duplication	not provided	GUncertain significance
Select item 549604	NC_000006.12:g.170299941_170556913dup	FAM120B, LOC110121051 +9 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic

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