30265[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 2370567	NM_001002814.3(RAB11FIP1):c.3821C>G (p.Thr1274Ser)	RAB11FIP1 (T1274S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150553	NM_001002814.3(RAB11FIP1):c.3811C>T (p.Arg1271Cys)	RAB11FIP1 (R637C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325707	NM_001002814.3(RAB11FIP1):c.3787A>G (p.Met1263Val)	RAB11FIP1 (M629V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227037	NM_001002814.3(RAB11FIP1):c.3683A>G (p.Asp1228Gly)	RAB11FIP1 (D1228G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312053	NM_001002814.3(RAB11FIP1):c.3668C>T (p.Ala1223Val)	RAB11FIP1 (A1223V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404738	NM_001002814.3(RAB11FIP1):c.3653C>A (p.Pro1218His)	RAB11FIP1 (P1218H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343275	NM_001002814.3(RAB11FIP1):c.3647C>T (p.Ser1216Leu)	RAB11FIP1 (S582L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658539	NM_001002814.3(RAB11FIP1):c.3633+29G>A	RAB11FIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791274	NM_001002814.3(RAB11FIP1):c.3618T>C (p.Asn1206=)	RAB11FIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2610322	NM_001002814.3(RAB11FIP1):c.3559A>T (p.Thr1187Ser)	RAB11FIP1 (T1187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536441	NM_001002814.3(RAB11FIP1):c.3506C>G (p.Thr1169Ser)	RAB11FIP1 (T1169S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150551	NM_001002814.3(RAB11FIP1):c.3499G>A (p.Ala1167Thr)	RAB11FIP1 (A1167T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292545	NM_001002814.3(RAB11FIP1):c.3467C>T (p.Ser1156Leu)	RAB11FIP1 (S1156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379461	NM_001002814.3(RAB11FIP1):c.3406G>A (p.Ala1136Thr)	RAB11FIP1 (A1136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404208	NM_001002814.3(RAB11FIP1):c.3365G>A (p.Ser1122Asn)	RAB11FIP1 (S1122N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150550	NM_001002814.3(RAB11FIP1):c.3308T>A (p.Ile1103Asn)	RAB11FIP1 (I1103N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150548	NM_001002814.3(RAB11FIP1):c.3298C>A (p.Pro1100Thr)	RAB11FIP1 (P1100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312632	NM_001002814.3(RAB11FIP1):c.3292C>T (p.Pro1098Ser)	RAB11FIP1 (P1098S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312057	NM_001002814.3(RAB11FIP1):c.3248C>G (p.Pro1083Arg)	RAB11FIP1 (P1083R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365470	NM_001002814.3(RAB11FIP1):c.3230C>T (p.Pro1077Leu)	RAB11FIP1 (P1077L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2291811	NM_001002814.3(RAB11FIP1):c.3208A>T (p.Ser1070Cys)	RAB11FIP1 (S1070C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618872	NM_001002814.3(RAB11FIP1):c.3187G>A (p.Asp1063Asn)	RAB11FIP1 (D1063N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312044	NM_001002814.3(RAB11FIP1):c.3148G>A (p.Gly1050Arg)	RAB11FIP1 (G1050R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404820	NM_001002814.3(RAB11FIP1):c.3112T>C (p.Ser1038Pro)	RAB11FIP1 (S1038P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465914	NM_001002814.3(RAB11FIP1):c.3049G>A (p.Glu1017Lys)	RAB11FIP1 (E1017K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600672	NM_001002814.3(RAB11FIP1):c.2972C>T (p.Ser991Leu)	RAB11FIP1 (S991L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2333418	NM_001002814.3(RAB11FIP1):c.2962A>C (p.Thr988Pro)	RAB11FIP1 (T988P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150547	NM_001002814.3(RAB11FIP1):c.2900C>T (p.Ser967Leu)	RAB11FIP1 (S967L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522819	NM_001002814.3(RAB11FIP1):c.2896G>A (p.Ala966Thr)	RAB11FIP1 (A966T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353176	NM_001002814.3(RAB11FIP1):c.2860G>A (p.Asp954Asn)	RAB11FIP1 (D954N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512310	NM_001002814.3(RAB11FIP1):c.2845T>C (p.Ser949Pro)	RAB11FIP1 (S949P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285962	NM_001002814.3(RAB11FIP1):c.2842A>G (p.Lys948Glu)	RAB11FIP1 (K948E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312051	NM_001002814.3(RAB11FIP1):c.2818G>C (p.Asp940His)	RAB11FIP1 (D940H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363468	NM_001002814.3(RAB11FIP1):c.2776A>G (p.Lys926Glu)	RAB11FIP1 (K926E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150545	NM_001002814.3(RAB11FIP1):c.2732T>C (p.Phe911Ser)	RAB11FIP1 (F911S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312043	NM_001002814.3(RAB11FIP1):c.2652C>G (p.His884Gln)	RAB11FIP1 (H884Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150544	NM_001002814.3(RAB11FIP1):c.2621C>T (p.Thr874Met)	RAB11FIP1 (T874M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782113	NM_001002814.3(RAB11FIP1):c.2574C>T (p.His858=)	RAB11FIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3150543	NM_001002814.3(RAB11FIP1):c.2570C>T (p.Pro857Leu)	RAB11FIP1 (P857L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719718	NM_001002814.3(RAB11FIP1):c.2544G>A (p.Ala848=)	RAB11FIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2457124	NM_001002814.3(RAB11FIP1):c.2542G>A (p.Ala848Thr)	RAB11FIP1 (A848T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233367	NM_001002814.3(RAB11FIP1):c.2524T>C (p.Trp842Arg)	RAB11FIP1 (W842R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288184	NM_001002814.3(RAB11FIP1):c.2470G>T (p.Ala824Ser)	RAB11FIP1 (A824S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150542	NM_001002814.3(RAB11FIP1):c.2423G>A (p.Arg808His)	RAB11FIP1 (R808H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150541	NM_001002814.3(RAB11FIP1):c.2315C>T (p.Ala772Val)	RAB11FIP1 (A772V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488213	NM_001002814.3(RAB11FIP1):c.2272T>G (p.Ser758Ala)	RAB11FIP1 (S758A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150540	NM_001002814.3(RAB11FIP1):c.2222T>C (p.Val741Ala)	RAB11FIP1 (V741A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3312055	NM_001002814.3(RAB11FIP1):c.2194C>T (p.Leu732Phe)	RAB11FIP1 (L732F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312052	NM_001002814.3(RAB11FIP1):c.2131T>C (p.Cys711Arg)	RAB11FIP1 (C711R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150539	NM_001002814.3(RAB11FIP1):c.2108A>G (p.Glu703Gly)	RAB11FIP1 (E703G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242019	NM_001002814.3(RAB11FIP1):c.2107G>A (p.Glu703Lys)	RAB11FIP1 (E703K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312046	NM_001002814.3(RAB11FIP1):c.2062G>A (p.Glu688Lys)	RAB11FIP1 (E688K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278989	NM_001002814.3(RAB11FIP1):c.2018G>A (p.Gly673Asp)	RAB11FIP1 (G673D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455991	NM_001002814.3(RAB11FIP1):c.2003A>G (p.Glu668Gly)	RAB11FIP1 (E668G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150537	NM_001002814.3(RAB11FIP1):c.1940C>T (p.Ser647Phe)	RAB11FIP1 (S647F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405129	NM_001002814.3(RAB11FIP1):c.1928C>T (p.Pro643Leu)	RAB11FIP1 (P643L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478477	NM_001002814.3(RAB11FIP1):c.1891C>T (p.Leu631Phe)	RAB11FIP1 (L631F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786559	NM_001002814.3(RAB11FIP1):c.1805T>C (p.Ile602Thr)	RAB11FIP1 (I602T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2229808	NM_001002814.3(RAB11FIP1):c.1690C>T (p.Leu564Phe)	RAB11FIP1 (L564F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510851	NM_001002814.3(RAB11FIP1):c.1667C>A (p.Ser556Tyr)	RAB11FIP1 (S556Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398958	NM_001002814.3(RAB11FIP1):c.1643C>T (p.Ala548Val)	RAB11FIP1 (A548V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312054	NM_001002814.3(RAB11FIP1):c.1623A>G (p.Arg541=)	RAB11FIP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 776319	NM_001002814.3(RAB11FIP1):c.1589C>T (p.Pro530Leu)	RAB11FIP1 (P530L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2308924	NM_001002814.3(RAB11FIP1):c.1520A>T (p.Asp507Val)	RAB11FIP1 (D507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150536	NM_001002814.3(RAB11FIP1):c.1453A>G (p.Arg485Gly)	RAB11FIP1 (R485G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150535	NM_001002814.3(RAB11FIP1):c.1425C>G (p.Asp475Glu)	RAB11FIP1 (D475E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150534	NM_001002814.3(RAB11FIP1):c.1415C>T (p.Pro472Leu)	RAB11FIP1 (P472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617797	NM_001002814.3(RAB11FIP1):c.1360A>G (p.Asn454Asp)	RAB11FIP1 (N454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150533	NM_001002814.3(RAB11FIP1):c.1293C>G (p.Ser431Arg)	RAB11FIP1 (S431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289806	NM_001002814.3(RAB11FIP1):c.1290G>T (p.Glu430Asp)	RAB11FIP1 (E430D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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