23061[HGNC] - ClinVar

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Items: 51

	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 2550284	NM_173355.4(UPP2):c.-11T>C	UPP2 (I54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186841	NM_173355.4(UPP2):c.5C>G (p.Ala2Gly)	UPP2 (A59G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186842	NM_173355.4(UPP2):c.8C>T (p.Ser3Leu)	UPP2 (S3L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186843	NM_173355.4(UPP2):c.29G>A (p.Arg10Lys)	UPP2 (R10K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186844	NM_173355.4(UPP2):c.79G>A (p.Val27Ile)	UPP2 (V27I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508037	NM_173355.4(UPP2):c.193G>A (p.Gly65Ser)	UPP2 (G122S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778012	NM_173355.4(UPP2):c.232A>C (p.Met78Leu)	UPP2 (M78L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2489514	NM_173355.4(UPP2):c.241G>A (p.Glu81Lys)	UPP2 (E138K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621733	NM_173355.4(UPP2):c.242A>G (p.Glu81Gly)	UPP2 (E138G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384756	NM_173355.4(UPP2):c.247G>A (p.Gly83Arg)	UPP2 (G83R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186845	NM_173355.4(UPP2):c.253G>C (p.Glu85Gln)	UPP2 (E142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331162	NM_173355.4(UPP2):c.308T>C (p.Met103Thr)	UPP2 (M103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352037	NM_173355.4(UPP2):c.406C>T (p.Arg136Trp)	UPP2 (R136W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527092	NM_173355.4(UPP2):c.436G>A (p.Gly146Ser)	UPP2 (G203S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186846	NM_173355.4(UPP2):c.437G>C (p.Gly146Ala)	UPP2 (G146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783344	NM_173355.4(UPP2):c.462A>C (p.Ala154=)	UPP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517826	NM_173355.4(UPP2):c.515G>A (p.Arg172Gln)	UPP2 (R172Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186847	NM_173355.4(UPP2):c.540C>G (p.Asn180Lys)	UPP2 (N180K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261701	NM_173355.4(UPP2):c.594C>A (p.Asn198Lys)	UPP2 (N255K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235631	NM_173355.4(UPP2):c.643T>C (p.Cys215Arg)	UPP2 (C215R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186848	NM_173355.4(UPP2):c.674G>T (p.Arg225Leu)	UPP2 (R282L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292837	NM_173355.4(UPP2):c.758T>C (p.Ile253Thr)	UPP2 (I253T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295794	NM_173355.4(UPP2):c.809A>G (p.Lys270Arg)	UPP2 (K327R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186838	NM_173355.4(UPP2):c.830C>T (p.Thr277Ile)	UPP2 (T277I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186839	NM_173355.4(UPP2):c.869C>T (p.Pro290Leu)	UPP2 (P290L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245249	NM_173355.4(UPP2):c.916T>C (p.Ser306Pro)	UPP2 (S363P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331163	NM_173355.4(UPP2):c.921C>A (p.Asn307Lys)	UPP2 (N364K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331164	NM_173355.4(UPP2):c.925A>G (p.Ile309Val)	UPP2 (I309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373969	NM_173355.4(UPP2):c.932G>A (p.Arg311Gln)	UPP2 (R311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401101	NM_173355.4(UPP2):c.935G>A (p.Arg312Gln)	UPP2 (R369Q +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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: 51