14122[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 2460414	NM_020825.4(CRAMP1):c.34G>A (p.Glu12Lys)	CRAMP1 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385747	NM_020825.4(CRAMP1):c.56G>A (p.Gly19Asp)	CRAMP1 (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221264	NM_020825.4(CRAMP1):c.103G>A (p.Gly35Ser)	CRAMP1 (G35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077217	NM_020825.4(CRAMP1):c.131G>A (p.Gly44Asp)	CRAMP1 (G44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077222	NM_020825.4(CRAMP1):c.172G>A (p.Gly58Ser)	CRAMP1 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528721	NM_020825.4(CRAMP1):c.181G>A (p.Ala61Thr)	CRAMP1 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077227	NM_020825.4(CRAMP1):c.185C>T (p.Pro62Leu)	CRAMP1 (P62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269408	NM_020825.4(CRAMP1):c.199C>A (p.Gln67Lys)	CRAMP1 (Q67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365801	NM_020825.4(CRAMP1):c.200A>C (p.Gln67Pro)	CRAMP1 (Q67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331602	NM_020825.4(CRAMP1):c.206C>T (p.Pro69Leu)	CRAMP1 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235824	NM_020825.4(CRAMP1):c.208T>G (p.Ser70Ala)	CRAMP1 (S70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324875	NM_020825.4(CRAMP1):c.250C>T (p.Arg84Trp)	CRAMP1 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316620	NM_020825.4(CRAMP1):c.284G>A (p.Arg95Lys)	CRAMP1 (R95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344296	NM_020825.4(CRAMP1):c.302C>T (p.Ala101Val)	CRAMP1 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077234	NM_020825.4(CRAMP1):c.305T>C (p.Val102Ala)	CRAMP1 (V102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287365	NM_020825.4(CRAMP1):c.329C>T (p.Ser110Leu)	CRAMP1 (S110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296840	NM_020825.4(CRAMP1):c.431G>A (p.Arg144Gln)	CRAMP1 (R144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387274	NM_020825.4(CRAMP1):c.470A>G (p.Lys157Arg)	CRAMP1 (K157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077240	NM_020825.4(CRAMP1):c.751G>A (p.Gly251Ser)	CRAMP1 (G251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529473	NM_020825.4(CRAMP1):c.848A>T (p.Lys283Ile)	CRAMP1 (K283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463096	NM_020825.4(CRAMP1):c.1099G>A (p.Ala367Thr)	CRAMP1 (A367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543660	NM_020825.4(CRAMP1):c.1118T>G (p.Val373Gly)	CRAMP1 (V373G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395677	NM_020825.4(CRAMP1):c.1121G>A (p.Arg374Gln)	CRAMP1 (R374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602374	NM_020825.4(CRAMP1):c.1166C>T (p.Pro389Leu)	CRAMP1 (P389L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269894	NM_020825.4(CRAMP1):c.1179G>T (p.Lys393Asn)	CRAMP1 (K393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077215	NM_020825.4(CRAMP1):c.1288G>A (p.Gly430Ser)	CRAMP1 (G430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077216	NM_020825.4(CRAMP1):c.1292G>A (p.Arg431Gln)	CRAMP1 (R431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289255	NM_020825.4(CRAMP1):c.1321G>C (p.Val441Leu)	CRAMP1 (V441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364951	NM_020825.4(CRAMP1):c.1391C>T (p.Pro464Leu)	CRAMP1 (P464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264323	NM_020825.4(CRAMP1):c.1415G>T (p.Gly472Val)	CRAMP1 (G472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348705	NM_020825.4(CRAMP1):c.1423C>T (p.Arg475Trp)	CRAMP1 (R475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278954	NM_020825.4(CRAMP1):c.1436C>T (p.Ala479Val)	CRAMP1 (A479V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295688	NM_020825.4(CRAMP1):c.1454G>T (p.Ser485Ile)	CRAMP1 (S485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493074	NM_020825.4(CRAMP1):c.1484C>T (p.Pro495Leu)	CRAMP1 (P495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077218	NM_020825.4(CRAMP1):c.1545G>C (p.Arg515Ser)	CRAMP1 (R515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399161	NM_020825.4(CRAMP1):c.1607G>A (p.Arg536Gln)	CRAMP1 (R536Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077219	NM_020825.4(CRAMP1):c.1648G>C (p.Asp550His)	CRAMP1 (D550H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077220	NM_020825.4(CRAMP1):c.1660G>A (p.Glu554Lys)	CRAMP1 (E554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077221	NM_020825.4(CRAMP1):c.1727A>G (p.Gln576Arg)	CRAMP1 (Q576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540546	NM_020825.4(CRAMP1):c.1739C>T (p.Ala580Val)	CRAMP1 (A580V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077223	NM_020825.4(CRAMP1):c.1744A>G (p.Thr582Ala)	CRAMP1 (T582A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394773	NM_020825.4(CRAMP1):c.1759G>A (p.Glu587Lys)	CRAMP1 (E587K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077225	NM_020825.4(CRAMP1):c.1771C>G (p.Leu591Val)	CRAMP1 (L591V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596304	NM_020825.4(CRAMP1):c.1786T>C (p.Ser596Pro)	CRAMP1 (S596P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341774	NM_020825.4(CRAMP1):c.1804C>T (p.Pro602Ser)	CRAMP1 (P602S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517803	NM_020825.4(CRAMP1):c.1837A>G (p.Thr613Ala)	CRAMP1 (T613A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077226	NM_020825.4(CRAMP1):c.1858G>A (p.Gly620Ser)	CRAMP1 (G620S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389367	NM_020825.4(CRAMP1):c.1898C>T (p.Ala633Val)	CRAMP1 (A633V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269406	NM_020825.4(CRAMP1):c.1996G>C (p.Ala666Pro)	CRAMP1 (A666P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208749	NM_020825.4(CRAMP1):c.2021G>A (p.Arg674His)	CRAMP1 (R674H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077228	NM_020825.4(CRAMP1):c.2050G>A (p.Glu684Lys)	CRAMP1 (E684K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372720	NM_020825.4(CRAMP1):c.2131G>A (p.Gly711Ser)	CRAMP1 (G711S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350188	NM_020825.4(CRAMP1):c.2134C>T (p.Arg712Cys)	CRAMP1 (R712C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410554	NM_020825.4(CRAMP1):c.2135G>A (p.Arg712His)	CRAMP1 (R712H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603384	NM_020825.4(CRAMP1):c.2147G>T (p.Arg716Leu)	CRAMP1 (R716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378134	NM_020825.4(CRAMP1):c.2152G>A (p.Gly718Ser)	CRAMP1 (G718S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269407	NM_020825.4(CRAMP1):c.2174A>C (p.His725Pro)	CRAMP1 (H725P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366415	NM_020825.4(CRAMP1):c.2186T>G (p.Leu729Arg)	CRAMP1 (L729R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267150	NM_020825.4(CRAMP1):c.2191A>G (p.Ser731Gly)	CRAMP1 (S731G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539658	NM_020825.4(CRAMP1):c.2281C>A (p.Gln761Lys)	CRAMP1 (Q761K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264213	NM_020825.4(CRAMP1):c.2350C>T (p.Arg784Trp)	CRAMP1 (R784W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529734	NM_020825.4(CRAMP1):c.2366T>C (p.Leu789Pro)	CRAMP1 (L789P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326615	NM_020825.4(CRAMP1):c.2386C>A (p.Pro796Thr)	CRAMP1 (P796T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077229	NM_020825.4(CRAMP1):c.2387C>T (p.Pro796Leu)	CRAMP1 (P796L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297315	NM_020825.4(CRAMP1):c.2564T>C (p.Leu855Pro)	CRAMP1 (L855P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257047	NM_020825.4(CRAMP1):c.2601G>T (p.Gln867His)	CRAMP1 (Q867H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269402	NM_020825.4(CRAMP1):c.2713G>A (p.Val905Ile)	CRAMP1 (V905I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386262	NM_020825.4(CRAMP1):c.2728A>G (p.Ile910Val)	CRAMP1 (I910V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077230	NM_020825.4(CRAMP1):c.2911C>A (p.Pro971Thr)	CRAMP1 (P971T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077231	NM_020825.4(CRAMP1):c.2962G>A (p.Glu988Lys)	CRAMP1 (E988K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554157	NM_020825.4(CRAMP1):c.2969C>T (p.Thr990Met)	CRAMP1 (T990M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077232	NM_020825.4(CRAMP1):c.2975C>T (p.Ala992Val)	CRAMP1 (A992V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077233	NM_020825.4(CRAMP1):c.2984G>A (p.Gly995Glu)	CRAMP1 (G995E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520908	NM_020825.4(CRAMP1):c.3031G>A (p.Val1011Met)	CRAMP1 (V1011M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412443	NM_020825.4(CRAMP1):c.3043G>A (p.Asp1015Asn)	CRAMP1 (D1015N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279165	NM_020825.4(CRAMP1):c.3140C>G (p.Ala1047Gly)	CRAMP1 (A1047G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077236	NM_020825.4(CRAMP1):c.3166C>T (p.Pro1056Ser)	CRAMP1 (P1056S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524324	NM_020825.4(CRAMP1):c.3167C>T (p.Pro1056Leu)	CRAMP1 (P1056L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269403	NM_020825.4(CRAMP1):c.3224T>C (p.Leu1075Pro)	CRAMP1 (L1075P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598126	NM_020825.4(CRAMP1):c.3248C>T (p.Pro1083Leu)	CRAMP1 (P1083L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485119	NM_020825.4(CRAMP1):c.3337G>A (p.Glu1113Lys)	CRAMP1 (E1113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599668	NM_020825.4(CRAMP1):c.3343G>A (p.Val1115Ile)	CRAMP1 (V1115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570491	NM_020825.4(CRAMP1):c.3353C>T (p.Ser1118Phe)	CRAMP1 (S1118F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325876	NM_020825.4(CRAMP1):c.3374G>T (p.Ser1125Ile)	CRAMP1 (S1125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479541	NM_020825.4(CRAMP1):c.3400C>A (p.Pro1134Thr)	CRAMP1 (P1134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269295	NM_020825.4(CRAMP1):c.3422A>C (p.His1141Pro)	CRAMP1 (H1141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539160	NM_020825.4(CRAMP1):c.3475G>A (p.Asp1159Asn)	CRAMP1 (D1159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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