10826[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 58937	GRCh38/hg38 2q37.2(chr2:234731742-235717851)x3	AGAP1, AGAP1-IT1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 2652029	NM_014521.3(SH3BP4):c.6G>A (p.Ala2=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318051	NM_014521.3(SH3BP4):c.14G>A (p.Arg5Gln)	SH3BP4 (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460127	NM_014521.3(SH3BP4):c.20G>A (p.Arg7Gln)	SH3BP4 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485358	NM_014521.3(SH3BP4):c.22G>A (p.Ala8Thr)	SH3BP4 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318055	NM_014521.3(SH3BP4):c.23C>T (p.Ala8Val)	SH3BP4 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672868	NM_014521.3(SH3BP4):c.26C>T (p.Ala9Val)	SH3BP4 (A9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2406162	NM_014521.3(SH3BP4):c.29A>G (p.Asn10Ser)	SH3BP4 (N10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161265	NM_014521.3(SH3BP4):c.35A>G (p.Asn12Ser)	SH3BP4 (N12S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318057	NM_014521.3(SH3BP4):c.121C>T (p.Pro41Ser)	SH3BP4 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373159	NM_014521.3(SH3BP4):c.128C>A (p.Pro43His)	SH3BP4 (P43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294581	NM_014521.3(SH3BP4):c.150C>A (p.Asn50Lys)	SH3BP4 (N50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161261	NM_014521.3(SH3BP4):c.157C>T (p.Pro53Ser)	SH3BP4 (P53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652030	NM_014521.3(SH3BP4):c.162C>T (p.Phe54=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258766	NM_014521.3(SH3BP4):c.199T>A (p.Cys67Ser)	SH3BP4 (C67S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3318053	NM_014521.3(SH3BP4):c.344G>A (p.Arg115Gln)	SH3BP4 (R115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161266	NM_014521.3(SH3BP4):c.450A>T (p.Lys150Asn)	SH3BP4 (K150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161267	NM_014521.3(SH3BP4):c.455C>T (p.Pro152Leu)	SH3BP4 (P152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161268	NM_014521.3(SH3BP4):c.505C>T (p.Pro169Ser)	SH3BP4 (P169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397370	NM_014521.3(SH3BP4):c.505C>G (p.Pro169Ala)	SH3BP4 (P169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368143	NM_014521.3(SH3BP4):c.529G>A (p.Val177Ile)	SH3BP4 (V177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397371	NM_014521.3(SH3BP4):c.532A>T (p.Met178Leu)	SH3BP4 (M178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309231	NM_014521.3(SH3BP4):c.571G>A (p.Asp191Asn)	SH3BP4 (D191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161269	NM_014521.3(SH3BP4):c.595A>C (p.Thr199Pro)	SH3BP4 (T199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316780	NM_014521.3(SH3BP4):c.662C>T (p.Pro221Leu)	SH3BP4 (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318052	NM_014521.3(SH3BP4):c.664G>A (p.Val222Ile)	SH3BP4 (V222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395552	NM_014521.3(SH3BP4):c.673G>A (p.Gly225Arg)	SH3BP4 (G225R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486284	NM_014521.3(SH3BP4):c.682G>A (p.Ala228Thr)	SH3BP4 (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750261	NM_014521.3(SH3BP4):c.771C>A (p.Ser257=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2333248	NM_014521.3(SH3BP4):c.788C>T (p.Ser263Leu)	SH3BP4 (S263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304163	NM_014521.3(SH3BP4):c.884G>A (p.Arg295Gln)	SH3BP4 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411176	NM_014521.3(SH3BP4):c.901G>A (p.Asp301Asn)	SH3BP4 (D301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318050	NM_014521.3(SH3BP4):c.958G>A (p.Val320Met)	SH3BP4 (V320M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310603	NM_014521.3(SH3BP4):c.992A>G (p.Gln331Arg)	SH3BP4 (Q331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318058	NM_014521.3(SH3BP4):c.1084C>T (p.Pro362Ser)	SH3BP4 (P362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553941	NM_014521.3(SH3BP4):c.1087C>A (p.Pro363Thr)	SH3BP4 (P363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284729	NM_014521.3(SH3BP4):c.1135G>C (p.Glu379Gln)	SH3BP4 (E379Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161255	NM_014521.3(SH3BP4):c.1171A>G (p.Ile391Val)	SH3BP4 (I391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161256	NM_014521.3(SH3BP4):c.1181A>C (p.Glu394Ala)	SH3BP4 (E394A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247393	NM_014521.3(SH3BP4):c.1256A>G (p.Asp419Gly)	SH3BP4 (D419G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474332	NM_014521.3(SH3BP4):c.1279T>C (p.Ser427Pro)	SH3BP4 (S427P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 761260	NM_014521.3(SH3BP4):c.1290C>T (p.Leu430=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318056	NM_014521.3(SH3BP4):c.1318G>T (p.Ala440Ser)	SH3BP4 (A440S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161257	NM_014521.3(SH3BP4):c.1336G>A (p.Glu446Lys)	SH3BP4 (E446K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269573	NM_014521.3(SH3BP4):c.1375A>G (p.Ser459Gly)	SH3BP4 (S459G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931375	NM_014521.3(SH3BP4):c.1403A>G (p.Asp468Gly)	SH3BP4 (D468G)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3161258	NM_014521.3(SH3BP4):c.1405T>G (p.Phe469Val)	SH3BP4 (F469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769596	NM_014521.3(SH3BP4):c.1410C>T (p.Ile470=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769597	NM_014521.3(SH3BP4):c.1470G>A (p.Thr490=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3161259	NM_014521.3(SH3BP4):c.1493A>C (p.Asp498Ala)	SH3BP4 (D498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769598	NM_014521.3(SH3BP4):c.1515G>C (p.Leu505=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256522	NM_014521.3(SH3BP4):c.1520G>A (p.Ser507Asn)	SH3BP4 (S507N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161260	NM_014521.3(SH3BP4):c.1550C>G (p.Ala517Gly)	SH3BP4 (A517G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652031	NM_014521.3(SH3BP4):c.1588G>A (p.Val530Ile)	SH3BP4 (V530I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3318049	NM_014521.3(SH3BP4):c.1601C>T (p.Pro534Leu)	SH3BP4 (P534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352066	NM_014521.3(SH3BP4):c.1679G>A (p.Arg560Gln)	SH3BP4 (R560Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590450	NM_014521.3(SH3BP4):c.1682G>T (p.Gly561Val)	SH3BP4 (G561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161262	NM_014521.3(SH3BP4):c.1703A>G (p.Lys568Arg)	SH3BP4 (K568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318054	NM_014521.3(SH3BP4):c.1745A>G (p.Asn582Ser)	SH3BP4 (N582S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616017	NM_014521.3(SH3BP4):c.1768C>T (p.Arg590Trp)	SH3BP4 (R590W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317324	NM_014521.3(SH3BP4):c.1769G>A (p.Arg590Gln)	SH3BP4 (R590Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479528	NM_014521.3(SH3BP4):c.1798A>G (p.Ile600Val)	SH3BP4 (I600V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345281	NM_014521.3(SH3BP4):c.1841A>G (p.Lys614Arg)	SH3BP4 (K614R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652032	NM_014521.3(SH3BP4):c.1956G>A (p.Pro652=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2548377	NM_014521.3(SH3BP4):c.2002C>G (p.Gln668Glu)	SH3BP4 (Q668E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614089	NM_014521.3(SH3BP4):c.2080C>T (p.Arg694Trp)	SH3BP4 (R694W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530533	NM_014521.3(SH3BP4):c.2113G>T (p.Gly705Cys)	SH3BP4 (G705C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343532	NM_014521.3(SH3BP4):c.2192C>T (p.Ser731Leu)	SH3BP4 (S731L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161263	NM_014521.3(SH3BP4):c.2237G>A (p.Arg746Gln)	SH3BP4 (R746Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769599	NM_014521.3(SH3BP4):c.2346G>A (p.Pro782=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512837	NM_014521.3(SH3BP4):c.2362C>T (p.Arg788Trp)	SH3BP4 (R788W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468630	NM_014521.3(SH3BP4):c.2389C>T (p.Arg797Trp)	SH3BP4 (R797W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219286	NM_014521.3(SH3BP4):c.2401G>A (p.Val801Ile)	SH3BP4 (V801I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487973	NM_014521.3(SH3BP4):c.2467G>C (p.Glu823Gln)	SH3BP4 (E823Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279510	NM_014521.3(SH3BP4):c.2546C>T (p.Thr849Met)	SH3BP4 (T849M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161264	NM_014521.3(SH3BP4):c.2573G>C (p.Arg858Pro)	SH3BP4 (R858P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309952	NM_014521.3(SH3BP4):c.2648A>G (p.Asn883Ser)	SH3BP4 (N883S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652033	NM_014521.3(SH3BP4):c.2649C>T (p.Asn883=)	SH3BP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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