ClinVar for Gene (Select 6196) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156206	NM_021135.6(RPS6KA2):c.121A>G (p.Ile41Val)	RPS6KA2 (I41V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156205	NM_021135.6(RPS6KA2):c.109G>A (p.Val37Ile)	RPS6KA2 (V45I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3156204	NM_021135.6(RPS6KA2):c.1271G>T (p.Gly424Val)	RPS6KA2 (G335V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156203	NM_021135.6(RPS6KA2):c.1064G>A (p.Arg355Gln)	RPS6KA2 (R257Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062885	GRCh37/hg19 6q27(chr6:167165318-167433823)x1	CEP43, RNASET2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2692109	NM_021135.6(RPS6KA2):c.2076+1G>C	RPS6KA2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684463	GRCh37/hg19 6q27(chr6:167047570-167576975)x3	CCR6, CEP43 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2681524	NM_021135.6(RPS6KA2):c.1318G>A (p.Glu440Lys)	RPS6KA2 (E342K +4 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2657126	NM_001006932.3(RPS6KA2):c.123+87310C>T	LOC126859894, RPS6KA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657125	NM_021135.6(RPS6KA2):c.249C>T (p.Asp83=)	RPS6KA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2657124	NM_021135.6(RPS6KA2):c.1161C>T (p.Pro387=)	RPS6KA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599187	NM_021135.6(RPS6KA2):c.242G>A (p.Gly81Glu)	RPS6KA2 (G81E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	LOC729681, LPA +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2560301	NM_021135.6(RPS6KA2):c.151T>C (p.Phe51Leu)	RPS6KA2 (F76L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546788	NM_021135.6(RPS6KA2):c.1498C>T (p.Arg500Trp)	RPS6KA2 (R411W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523454	NM_021135.6(RPS6KA2):c.2054G>A (p.Arg685Gln)	RPS6KA2 (R596Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510447	NM_021135.6(RPS6KA2):c.983G>A (p.Arg328Gln)	RPS6KA2 (R230Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465156	NM_021135.6(RPS6KA2):c.1441T>G (p.Phe481Val)	RPS6KA2 (F383V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459127	NM_021135.6(RPS6KA2):c.1985C>T (p.Thr662Met)	RPS6KA2 (T564M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405330	NM_021135.6(RPS6KA2):c.2182C>A (p.Leu728Ile)	RPS6KA2 (L639I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405000	NM_021135.6(RPS6KA2):c.1499G>A (p.Arg500Gln)	RPS6KA2 (R402Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403350	NM_021135.6(RPS6KA2):c.1915G>A (p.Asp639Asn)	RPS6KA2 (D541N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403309	NM_021135.6(RPS6KA2):c.1769C>T (p.Ala590Val)	RPS6KA2 (A598V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296435	NM_021135.6(RPS6KA2):c.1879G>A (p.Gly627Ser)	RPS6KA2 (G635S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276384	NM_021135.6(RPS6KA2):c.1976A>G (p.Gln659Arg)	RPS6KA2 (Q561R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233369	NM_001006932.3(RPS6KA2):c.119A>G (p.Glu40Gly)	RPS6KA2 (E40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230132	NM_021135.6(RPS6KA2):c.538A>G (p.Ile180Val)	LOC126859891, RPS6KA2 (I82V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218278	NM_021135.6(RPS6KA2):c.1469G>A (p.Arg490His)	RPS6KA2 (R401H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215463	NM_021135.6(RPS6KA2):c.1093C>T (p.Pro365Ser)	RPS6KA2 (P365S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209033	NM_021135.6(RPS6KA2):c.979T>C (p.Tyr327His)	RPS6KA2 (Y327H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	DACT2, AFDN +31 more	Copy number loss	not provided	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527324	GRCh37/hg19 6q27(chr6:165622608-166897295)	C6orf118, LOC729681 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340871	GRCh37/hg19 6q27(chr6:167263995-167774832)x3	CCR6, CEP43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 996726	NM_021135.6(RPS6KA2):c.1696G>A (p.Gly566Arg)	RPS6KA2 (G468R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 979596	GRCh37/hg19 6q27(chr6:167220089-167305288)x1	RPS6KA2	Copy number loss	not provided	GLikely benign
Select item 814904	GRCh37/hg19 6q27(chr6:166827923-167156755)x3	RPS6KA2	Copy number gain	not provided	GUncertain significance
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 781018	NM_021135.6(RPS6KA2):c.2187G>C (p.Thr729=)	RPS6KA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770932	NM_021135.6(RPS6KA2):c.1695C>T (p.Asn565=)	RPS6KA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563257	GRCh37/hg19 6q27(chr6:167167381-167433823)x1	CEP43, RPS6KA2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563256	GRCh37/hg19 6q27(chr6:166686874-166891466)x3	RPS6KA2, MPC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394614	GRCh37/hg19 6q27(chr6:167194654-167416922)x1	CEP43, RNASET2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 394418	GRCh37/hg19 6q27(chr6:166571083-167265466)x1	MPC1, PRR18 +3 more	Copy number loss	See cases	GUncertain significance
Select item 394084	GRCh37/hg19 6q26-27(chr6:163731741-167090237)x1	C6orf118, LOC729681 +9 more	Copy number loss	See cases	GPathogenic
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +203 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +297 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +168 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +224 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +243 more	Copy number loss	See cases	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	AFDN, AFDN-DT +247 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +299 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	C6orf118, C6orf120 +321 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 87