ClinVar for Gene (Select 390664) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262417	NM_207419.3(C1QTNF8):c.679G>C (p.Asp227His)	C1QTNF8 (D227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262416	NM_207419.3(C1QTNF8):c.694G>A (p.Gly232Ser)	C1QTNF8 (G232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262415	NM_207419.3(C1QTNF8):c.491A>G (p.Tyr164Cys)	C1QTNF8 (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262414	NM_207419.3(C1QTNF8):c.121C>T (p.Arg41Trp)	C1QTNF8 (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262413	NM_207419.3(C1QTNF8):c.326G>C (p.Gly109Ala)	C1QTNF8 (G109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3135805	NM_207419.3(C1QTNF8):c.328G>A (p.Ala110Thr)	C1QTNF8 (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135804	NM_207419.3(C1QTNF8):c.229G>A (p.Val77Ile)	C1QTNF8 (V77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135803	NM_207419.3(C1QTNF8):c.217G>T (p.Gly73Cys)	C1QTNF8 (G73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135802	NM_207419.3(C1QTNF8):c.104C>T (p.Pro35Leu)	C1QTNF8 (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684771	GRCh37/hg19 16p13.3(chr16:898328-1349091)x3	C1QTNF8, CACNA1H +7 more	Copy number gain	not provided	GUncertain significance
Select item 2618614	NM_207419.3(C1QTNF8):c.55C>T (p.Pro19Ser)	C1QTNF8 (P19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611607	NM_207419.3(C1QTNF8):c.658C>T (p.Arg220Cys)	C1QTNF8 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532087	NM_207419.3(C1QTNF8):c.513C>G (p.His171Gln)	C1QTNF8 (H171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524936	NM_207419.3(C1QTNF8):c.103C>T (p.Pro35Ser)	C1QTNF8 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521851	NM_207419.3(C1QTNF8):c.580G>C (p.Ala194Pro)	C1QTNF8 (A194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517018	NM_207419.3(C1QTNF8):c.323C>T (p.Pro108Leu)	C1QTNF8 (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516832	NM_207419.3(C1QTNF8):c.677G>A (p.Arg226Gln)	C1QTNF8 (R226Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2376894	NM_207419.3(C1QTNF8):c.233G>A (p.Arg78Gln)	C1QTNF8 (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364081	NM_207419.3(C1QTNF8):c.353C>T (p.Ala118Val)	C1QTNF8 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321913	NM_207419.3(C1QTNF8):c.746C>A (p.Ala249Asp)	C1QTNF8 (A249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305301	NM_207419.3(C1QTNF8):c.65C>G (p.Pro22Arg)	C1QTNF8 (P22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227601	NM_207419.3(C1QTNF8):c.331G>A (p.Ala111Thr)	C1QTNF8 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204787	NM_207419.3(C1QTNF8):c.488T>C (p.Val163Ala)	C1QTNF8 (V163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1047658	NC_000016.9:g.(?_765584)_(1204036_?)del	CHTF18, CIAO3 +13 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687624	GRCh37/hg19 16p13.3(chr16:1134638-1295079)x4	C1QTNF8, CACNA1H +3 more	Copy number gain	not provided	GUncertain significance
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 394218	GRCh37/hg19 16p13.3(chr16:1138590-1260377)x3	C1QTNF8, CACNA1H	Copy number gain	See cases	GUncertain significance
Select item 393829	GRCh37/hg19 16p13.3(chr16:1127725-1145688)x1	C1QTNF8, SSTR5	Copy number loss	See cases	GLikely benign
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221390	GRCh37/hg19 16p13.3(chr16:97494-1257060)x3	ANTKMT, ARHGDIG +49 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 154391	GRCh38/hg38 16p13.3(chr16:925267-1324901)x3	C1QTNF8, CACNA1H +27 more	Copy number gain	See cases	GUncertain significance
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 84