CCDC148[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 154128	GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1	ACVR1, ACVR1C +26 more	Copy number loss	See cases	GUncertain significance
Select item 148746	GRCh38/hg38 2q24.1(chr2:158081288-158743457)x1	CCDC148, CCDC148-AS1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 2289169	NM_138803.4(CCDC148):c.1691C>A (p.Thr564Lys)	CCDC148, CCDC148-AS1 (T418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736667	NM_138803.4(CCDC148):c.1680A>G (p.Gly560=)	CCDC148, CCDC148-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3138485	NM_138803.4(CCDC148):c.1622A>G (p.Glu541Gly)	CCDC148, CCDC148-AS1 (E541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792181	NM_138803.4(CCDC148):c.1614A>G (p.Thr538=)	CCDC148, CCDC148-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716761	NM_138803.4(CCDC148):c.1564G>A (p.Glu522Lys)	CCDC148, CCDC148-AS1 (E376K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2255236	NM_138803.4(CCDC148):c.1540G>A (p.Ala514Thr)	CCDC148, CCDC148-AS1 (A368T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 761064	NM_138803.4(CCDC148):c.1489-9C>T	CCDC148, CCDC148-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3138484	NM_138803.4(CCDC148):c.1364G>C (p.Arg455Thr)	CCDC148, CCDC148-AS1 (R455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263923	NM_138803.4(CCDC148):c.1342G>T (p.Ala448Ser)	CCDC148, CCDC148-AS1 (A302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263928	NM_138803.4(CCDC148):c.1198G>A (p.Glu400Lys)	CCDC148 (E254K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709607	NM_138803.4(CCDC148):c.1161A>G (p.Glu387=)	CCDC148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 795160	NM_138803.4(CCDC148):c.1150C>T (p.Leu384=)	CCDC148	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 549582	NC_000002.11:g.159142708_159250404del107697	CCDC148	Deletion	Primary amenorrhea	GLikely benign
Select item 3138482	NM_138803.4(CCDC148):c.1031G>T (p.Cys344Phe)	CCDC148 (C198F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138481	NM_138803.4(CCDC148):c.1031G>C (p.Cys344Ser)	CCDC148 (C198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795161	NM_138803.4(CCDC148):c.958A>G (p.Ile320Val)	CCDC148 (I320V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3263925	NM_138803.4(CCDC148):c.922T>C (p.Cys308Arg)	CCDC148 (C308R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774597	NM_138803.4(CCDC148):c.920A>T (p.Tyr307Phe)	CCDC148 (Y307F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3138490	NM_138803.4(CCDC148):c.894G>T (p.Arg298Ser)	CCDC148 (R298S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138489	NM_138803.4(CCDC148):c.886A>G (p.Lys296Glu)	CCDC148 (K150E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367136	NM_138803.4(CCDC148):c.869A>G (p.Gln290Arg)	CCDC148 (Q144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138488	NM_138803.4(CCDC148):c.864G>A (p.Met288Ile)	CCDC148 (M288I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279160	NM_138803.4(CCDC148):c.734A>T (p.Asp245Val)	CCDC148 (D245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263924	NM_138803.4(CCDC148):c.731A>G (p.Gln244Arg)	CCDC148 (Q98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263921	NM_138803.4(CCDC148):c.694T>C (p.Phe232Leu)	CCDC148 (F232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263927	NM_138803.4(CCDC148):c.659C>T (p.Pro220Leu)	CCDC148 (P220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361814	NM_138803.4(CCDC148):c.617C>T (p.Pro206Leu)	CCDC148 (P60L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262497	NM_138803.4(CCDC148):c.609G>C (p.Lys203Asn)	CCDC148 (K203N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138487	NM_138803.4(CCDC148):c.584T>A (p.Ile195Asn)	CCDC148 (I49N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263926	NM_138803.4(CCDC148):c.475G>C (p.Val159Leu)	CCDC148 (V159L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651446	NM_138803.4(CCDC148):c.451C>A (p.His151Asn)	CCDC148 (H151N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 724325	NM_138803.4(CCDC148):c.392A>G (p.Gln131Arg)	CCDC148 (Q131R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3138486	NM_138803.4(CCDC148):c.367C>G (p.Leu123Val)	CCDC148 (L123V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777565	NM_138803.4(CCDC148):c.224A>C (p.Gln75Pro)	CCDC148 (Q75P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2229188	NM_138803.4(CCDC148):c.191C>T (p.Thr64Ile)	CCDC148 (T64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611847	NM_138803.4(CCDC148):c.161T>A (p.Met54Lys)	CCDC148 (M54K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372554	NM_138803.4(CCDC148):c.98G>A (p.Arg33His)	CCDC148 (R33H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2612737	NM_138803.4(CCDC148):c.97C>T (p.Arg33Cys)	CCDC148 (R33C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331926	NM_138803.4(CCDC148):c.76C>T (p.Pro26Ser)	CCDC148 (P26S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3263920	NM_138803.4(CCDC148):c.65T>G (p.Ile22Ser)	CCDC148 (I22S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 3138483	NM_138803.4(CCDC148):c.10G>A (p.Ala4Thr)	CCDC148 (A4T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 726278	NM_138803.4(CCDC148):c.2T>A (p.Met1Lys)	CCDC148 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 1809406	GRCh37/hg19 2q24.1-24.2(chr2:159214954-160334904)x3	BAZ2B, CCDC148 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526924	GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735)	BAZ2B, CCDC148 +22 more	Copy number loss	not specified	GPathogenic
Select item 1526923	GRCh37/hg19 2q24.1(chr2:158761397-159068144)	CCDC148, UPP2	Copy number loss	not specified	GUncertain significance
Select item 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340109	GRCh37/hg19 2q24.1(chr2:159079205-159275673)x1	CCDC148	Copy number loss	not provided	GUncertain significance
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 980600	GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1	ACVR1C, GALNT5 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814335	GRCh37/hg19 2q24.1(chr2:159085853-159275673)x1	CCDC148	Copy number loss	not provided	GUncertain significance
Select item 814334	GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1	RBMS1, SLC4A10 +16 more	Copy number loss	not provided	GPathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 67