19847[HGNC] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 2362193	NM_001164399.2(CCDC175):c.2342C>A (p.Pro781Gln)	CCDC175, JKAMP (P781Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2591422	NM_001164399.2(CCDC175):c.2320A>G (p.Ile774Val)	CCDC175, JKAMP (I774V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2612440	NM_001164399.2(CCDC175):c.2298C>G (p.Asp766Glu)	CCDC175 (D766E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390763	NM_001164399.2(CCDC175):c.2267G>A (p.Arg756His)	CCDC175 (R756H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472575	NM_001164399.2(CCDC175):c.2239T>G (p.Trp747Gly)	CCDC175 (W747G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310165	NM_001164399.2(CCDC175):c.2222T>G (p.Met741Arg)	CCDC175 (M741R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369350	NM_001164399.2(CCDC175):c.2219A>C (p.Lys740Thr)	CCDC175 (K740T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264092	NM_001164399.2(CCDC175):c.2137G>A (p.Val713Ile)	CCDC175 (V713I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622715	NM_001164399.2(CCDC175):c.2078G>C (p.Arg693Pro)	CCDC175 (R693P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404724	NM_001164399.2(CCDC175):c.1961A>C (p.Asp654Ala)	CCDC175 (D654A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264094	NM_001164399.2(CCDC175):c.1940A>G (p.Tyr647Cys)	CCDC175 (Y647C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138883	NM_001164399.2(CCDC175):c.1933G>A (p.Gly645Arg)	CCDC175 (G645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366364	NM_001164399.2(CCDC175):c.1874G>A (p.Arg625Gln)	CCDC175 (R625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611411	NM_001164399.2(CCDC175):c.1835G>A (p.Ser612Asn)	CCDC175 (S612N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138882	NM_001164399.2(CCDC175):c.1747A>C (p.Ser583Arg)	CCDC175 (S583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138880	NM_001164399.2(CCDC175):c.1745T>G (p.Leu582Arg)	CCDC175 (L582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514924	NM_001164399.2(CCDC175):c.1709A>C (p.Gln570Pro)	CCDC175 (Q570P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138879	NM_001164399.2(CCDC175):c.1647A>T (p.Gln549His)	CCDC175 (Q549H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251243	NM_001164399.2(CCDC175):c.1606G>A (p.Glu536Lys)	CCDC175 (E536K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339346	NM_001164399.2(CCDC175):c.1549A>G (p.Thr517Ala)	CCDC175 (T517A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329452	NM_001164399.2(CCDC175):c.1453C>G (p.Gln485Glu)	CCDC175 (Q485E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594352	NM_001164399.2(CCDC175):c.1403G>A (p.Arg468His)	CCDC175 (R468H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138878	NM_001164399.2(CCDC175):c.1375A>C (p.Met459Leu)	CCDC175 (M459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138877	NM_001164399.2(CCDC175):c.1346G>C (p.Ser449Thr)	CCDC175 (S449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470972	NM_001164399.2(CCDC175):c.1285G>T (p.Ala429Ser)	CCDC175 (A429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264093	NM_001164399.2(CCDC175):c.1217T>G (p.Leu406Arg)	CCDC175 (L406R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264091	NM_001164399.2(CCDC175):c.1209A>T (p.Glu403Asp)	CCDC175 (E403D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138875	NM_001164399.2(CCDC175):c.1173A>C (p.Glu391Asp)	CCDC175 (E391D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286010	NM_001164399.2(CCDC175):c.1139A>C (p.Lys380Thr)	CCDC175 (K380T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138874	NM_001164399.2(CCDC175):c.1072A>G (p.Lys358Glu)	CCDC175 (K358E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339936	NM_001164399.2(CCDC175):c.1061G>C (p.Arg354Pro)	CCDC175 (R354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526049	NM_001164399.2(CCDC175):c.1027A>G (p.Ile343Val)	CCDC175 (I343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405699	NM_001164399.2(CCDC175):c.1010A>G (p.Asn337Ser)	CCDC175 (N337S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524652	NM_001164399.2(CCDC175):c.988G>A (p.Asp330Asn)	CCDC175 (D330N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138887	NM_001164399.2(CCDC175):c.947C>T (p.Ala316Val)	CCDC175 (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264097	NM_001164399.2(CCDC175):c.911T>C (p.Val304Ala)	CCDC175 (V304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461639	NM_001164399.2(CCDC175):c.881A>G (p.His294Arg)	CCDC175 (H294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519020	NM_001164399.2(CCDC175):c.797A>G (p.Gln266Arg)	CCDC175 (Q266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138886	NM_001164399.2(CCDC175):c.781G>C (p.Glu261Gln)	CCDC175 (E261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221994	NM_001164399.2(CCDC175):c.682G>C (p.Ala228Pro)	CCDC175 (A228P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276873	NM_001164399.2(CCDC175):c.621A>C (p.Glu207Asp)	CCDC175 (E207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264095	NM_001164399.2(CCDC175):c.616A>G (p.Arg206Gly)	CCDC175 (R206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230929	NM_001164399.2(CCDC175):c.472A>G (p.Lys158Glu)	CCDC175 (K158E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323575	NM_001164399.2(CCDC175):c.470C>G (p.Thr157Arg)	CCDC175 (T157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138885	NM_001164399.2(CCDC175):c.449A>G (p.Lys150Arg)	CCDC175 (K150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264096	NM_001164399.2(CCDC175):c.425C>T (p.Thr142Ile)	CCDC175 (T142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280902	NM_001164399.2(CCDC175):c.392A>G (p.Glu131Gly)	CCDC175 (E131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264098	NM_001164399.2(CCDC175):c.335G>A (p.Ser112Asn)	CCDC175 (S112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469225	NM_001164399.2(CCDC175):c.265A>G (p.Ile89Val)	CCDC175 (I89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480513	NM_001164399.2(CCDC175):c.122T>C (p.Val41Ala)	CCDC175 (V41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278813	NM_001164399.2(CCDC175):c.103T>G (p.Ser35Ala)	CCDC175 (S35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 685757	GRCh37/hg19 14q23.1(chr14:59939135-60006849)x3	CCDC175, JKAMP +1 more	Copy number gain	not provided	GUncertain significance
Select item 564129	GRCh37/hg19 14q23.1(chr14:60011801-61106182)x3	CCDC175, PCNX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564123	GRCh37/hg19 14q23.1(chr14:59527587-60119877)x3	JKAMP, GPR135 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 68