ClinVar for Gene (Select 285800) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310451	NM_175922.4(PRR18):c.512C>A (p.Pro171His)	PRR18 (P171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310449	NM_175922.4(PRR18):c.586G>A (p.Asp196Asn)	PRR18 (D196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310448	NM_175922.4(PRR18):c.287C>A (p.Ala96Glu)	PRR18 (A96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310447	NM_175922.4(PRR18):c.76C>T (p.Pro26Ser)	LOC129997654, PRR18 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219378	NM_175922.4(PRR18):c.824C>G (p.Ser275Cys)	PRR18 (S275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219377	NM_175922.4(PRR18):c.620C>G (p.Ala207Gly)	PRR18 (A207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219376	NM_175922.4(PRR18):c.613C>G (p.Arg205Gly)	PRR18 (R205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219375	NM_175922.4(PRR18):c.568G>T (p.Gly190Cys)	PRR18 (G190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219374	NM_175922.4(PRR18):c.530C>A (p.Pro177Gln)	PRR18 (P177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219373	NM_175922.4(PRR18):c.368C>T (p.Ser123Leu)	PRR18 (S123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219371	NM_175922.4(PRR18):c.257C>T (p.Ala86Val)	LOC129997654, PRR18 (A86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219370	NM_175922.4(PRR18):c.250G>A (p.Ala84Thr)	LOC129997654, PRR18 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219369	NM_175922.4(PRR18):c.242C>G (p.Pro81Arg)	LOC129997654, PRR18 (P81R)	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 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2619372	NM_175922.4(PRR18):c.881C>G (p.Thr294Arg)	PRR18 (T294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612247	NM_175922.4(PRR18):c.251C>G (p.Ala84Gly)	LOC129997654, PRR18 (A84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592144	NM_175922.4(PRR18):c.619G>A (p.Ala207Thr)	PRR18 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591564	NM_175922.4(PRR18):c.332C>T (p.Ser111Leu)	PRR18 (S111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 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 2568975	NM_175922.4(PRR18):c.158T>C (p.Leu53Pro)	LOC129997654, PRR18 (L53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555695	NM_175922.4(PRR18):c.473C>A (p.Ala158Glu)	PRR18 (A158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551946	NM_175922.4(PRR18):c.211G>A (p.Ala71Thr)	LOC129997654, PRR18 (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516980	NM_175922.4(PRR18):c.773T>C (p.Val258Ala)	PRR18 (V258A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509611	NM_175922.4(PRR18):c.16A>T (p.Met6Leu)	LOC129997654, PRR18 (M6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489442	NM_175922.4(PRR18):c.811C>T (p.Arg271Cys)	PRR18 (R271C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463336	NM_175922.4(PRR18):c.301A>G (p.Ser101Gly)	PRR18 (S101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405632	NM_175922.4(PRR18):c.884T>A (p.Leu295Gln)	PRR18 (L295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405349	NM_175922.4(PRR18):c.583C>T (p.Pro195Ser)	PRR18 (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390065	NM_175922.4(PRR18):c.91G>A (p.Asp31Asn)	LOC129997654, PRR18 (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377579	NM_175922.4(PRR18):c.188G>T (p.Gly63Val)	LOC129997654, PRR18 (G63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367352	NM_175922.4(PRR18):c.835G>T (p.Ala279Ser)	PRR18 (A279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356228	NM_175922.4(PRR18):c.844C>T (p.Arg282Trp)	PRR18 (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351736	NM_175922.4(PRR18):c.220G>A (p.Gly74Ser)	LOC129997654, PRR18 (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345851	NM_175922.4(PRR18):c.22C>T (p.Pro8Ser)	LOC129997654, PRR18 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344143	NM_175922.4(PRR18):c.580G>T (p.Asp194Tyr)	PRR18 (D194Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300972	NM_175922.4(PRR18):c.565G>A (p.Gly189Ser)	PRR18 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288833	NM_175922.4(PRR18):c.272C>G (p.Ala91Gly)	PRR18 (A91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276943	NM_175922.4(PRR18):c.205C>A (p.Pro69Thr)	LOC129997654, PRR18 (P69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250004	NM_175922.4(PRR18):c.818T>G (p.Val273Gly)	PRR18 (V273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238383	NM_175922.4(PRR18):c.481C>G (p.Arg161Gly)	PRR18 (R161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238281	NM_175922.4(PRR18):c.26C>T (p.Pro9Leu)	LOC129997654, PRR18 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229995	NM_175922.4(PRR18):c.823T>G (p.Ser275Ala)	PRR18 (S275A)	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	AFDN, C6orf118 +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 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
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 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 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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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 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 +278 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 151593	GRCh38/hg38 6q27(chr6:165631374-166361022)x3	LINC00473, LINC00602 +25 more	Copy number gain	See cases	GUncertain significance
Select item 151592	GRCh38/hg38 6q27(chr6:165631374-166405780)x3	LINC00473, LINC00602 +30 more	Copy number gain	See cases	GUncertain significance
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 90